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Author (up) Anttila, V.; Winsvold, B.S.; Gormley, P.; Kurth, T.; Bettella, F.; McMahon, G.; Kallela, M.; Malik, R.; de Vries, B.; Terwindt, G.; Medland, S.E.; Todt, U.; McArdle, W.L.; Quaye, L.; Koiranen, M.; Ikram, M.A.; Lehtimaki, T.; Stam, A.H.; Ligthart, L.; Wedenoja, J.; Dunham, I.; Neale, B.M.; Palta, P.; Hamalainen, E.; Schurks, M.; Rose, L.M.; Buring, J.E.; Ridker, P.M.; Steinberg, S.; Stefansson, H.; Jakobsson, F.; Lawlor, D.A.; Evans, D.M.; Ring, S.M.; Farkkila, M.; Artto, V.; Kaunisto, M.A.; Freilinger, T.; Schoenen, J.; Frants, R.R.; Pelzer, N.; Weller, C.M.; Zielman, R.; Heath, A.C.; Madden, P.A.F.; Montgomery, G.W.; Martin, N.G.; Borck, G.; Gobel, H.; Heinze, A.; Heinze-Kuhn, K.; Williams, F.M.K.; Hartikainen, A.-L.; Pouta, A.; van den Ende, J.; Uitterlinden, A.G.; Hofman, A.; Amin, N.; Hottenga, J.-J.; Vink, J.M.; Heikkila, K.; Alexander, M.; Muller-Myhsok, B.; Schreiber, S.; Meitinger, T.; Wichmann, H.E.; Aromaa, A.; Eriksson, J.G.; Traynor, B.J.; Trabzuni, D.; Rossin, E.; Lage, K.; Jacobs, S.B.R.; Gibbs, J.R.; Birney, E.; Kaprio, J.; Penninx, B.W.; Boomsma, D.I.; van Duijn, C.; Raitakari, O.; Jarvelin, M.-R.; Zwart, J.-A.; Cherkas, L.; Strachan, D.P.; Kubisch, C.; Ferrari, M.D.; van den Maagdenberg, A.M.J.M.; Dichgans, M.; Wessman, M.; Smith, G.D.; Stefansson, K.; Daly, M.J.; Nyholt, D.R.; Chasman, D.I.; Palotie, A. url  doi
  Title Genome-wide meta-analysis identifies new susceptibility loci for migraine Type Meta-Analysis
  Year 2013 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 45 Issue 8 Pages 912-917  
  Keywords Cerebellum/metabolism; Computational Biology; Frontal Lobe/metabolism; *Genetic Loci; *Genetic Predisposition to Disease; *Genome-Wide Association Study; Humans; Migraine Disorders/*genetics; Polymorphism, Single Nucleotide; Quantitative Trait Loci; HUNT3  
  Abstract Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P<5x10(-8)). Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21. Three of these loci were identified in disease subgroup analyses. Brain tissue expression quantitative trait locus analysis suggests potential functional candidate genes at four loci: APOA1BP, TBC1D7, FUT9, STAT6 and ATP5B.  
  Address Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. anttila@atgu.mgh.harvard.edu  
  Corporate Author International Headache Genetics Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:23793025 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1341  
Permanent link to this record
 

 
Author (up) Berndt, S.I.; Gustafsson, S.; Magi, R.; Ganna, A.; Wheeler, E.; Feitosa, M.F.; Justice, A.E.; Monda, K.L.; Croteau-Chonka, D.C.; Day, F.R.; Esko, T.; Fall, T.; Ferreira, T.; Gentilini, D.; Jackson, A.U.; Luan, J.'an; Randall, J.C.; Vedantam, S.; Willer, C.J.; Winkler, T.W.; Wood, A.R.; Workalemahu, T.; Hu, Y.-J.; Lee, S.H.; Liang, L.; Lin, D.-Y.; Min, J.L.; Neale, B.M.; Thorleifsson, G.; Yang, J.; Albrecht, E.; Amin, N.; Bragg-Gresham, J.L.; Cadby, G.; den Heijer, M.; Eklund, N.; Fischer, K.; Goel, A.; Hottenga, J.-J.; Huffman, J.E.; Jarick, I.; Johansson, A.; Johnson, T.; Kanoni, S.; Kleber, M.E.; Konig, I.R.; Kristiansson, K.; Kutalik, Z.; Lamina, C.; Lecoeur, C.; Li, G.; Mangino, M.; McArdle, W.L.; Medina-Gomez, C.; Muller-Nurasyid, M.; Ngwa, J.S.; Nolte, I.M.; Paternoster, L.; Pechlivanis, S.; Perola, M.; Peters, M.J.; Preuss, M.; Rose, L.M.; Shi, J.; Shungin, D.; Smith, A.V.; Strawbridge, R.J.; Surakka, I.; Teumer, A.; Trip, M.D.; Tyrer, J.; Van Vliet-Ostaptchouk, J.V.; Vandenput, L.; Waite, L.L.; Zhao, J.H.; Absher, D.; Asselbergs, F.W.; Atalay, M.; Attwood, A.P.; Balmforth, A.J.; Basart, H.; Beilby, J.; Bonnycastle, L.L.; Brambilla, P.; Bruinenberg, M.; Campbell, H.; Chasman, D.I.; Chines, P.S.; Collins, F.S.; Connell, J.M.; Cookson, W.O.; de Faire, U.; de Vegt, F.; Dei, M.; Dimitriou, M.; Edkins, S.; Estrada, K.; Evans, D.M.; Farrall, M.; Ferrario, M.M.; Ferrieres, J.; Franke, L.; Frau, F.; Gejman, P.V.; Grallert, H.; Gronberg, H.; Gudnason, V.; Hall, A.S.; Hall, P.; Hartikainen, A.-L.; Hayward, C.; Heard-Costa, N.L.; Heath, A.C.; Hebebrand, J.; Homuth, G.; Hu, F.B.; Hunt, S.E.; Hypponen, E.; Iribarren, C.; Jacobs, K.B.; Jansson, J.-O.; Jula, A.; Kahonen, M.; Kathiresan, S.; Kee, F.; Khaw, K.-T.; Kivimaki, M.; Koenig, W.; Kraja, A.T.; Kumari, M.; Kuulasmaa, K.; Kuusisto, J.; Laitinen, J.H.; Lakka, T.A.; Langenberg, C.; Launer, L.J.; Lind, L.; Lindstrom, J.; Liu, J.; Liuzzi, A.; Lokki, M.-L.; Lorentzon, M.; Madden, P.A.; Magnusson, P.K.; Manunta, P.; Marek, D.; Marz, W.; Mateo Leach, I.; McKnight, B.; Medland, S.E.; Mihailov, E.; Milani, L.; Montgomery, G.W.; Mooser, V.; Muhleisen, T.W.; Munroe, P.B.; Musk, A.W.; Narisu, N.; Navis, G.; Nicholson, G.; Nohr, E.A.; Ong, K.K.; Oostra, B.A.; Palmer, C.N.A.; Palotie, A.; Peden, J.F.; Pedersen, N.; Peters, A.; Polasek, O.; Pouta, A.; Pramstaller, P.P.; Prokopenko, I.; Putter, C.; Radhakrishnan, A.; Raitakari, O.; Rendon, A.; Rivadeneira, F.; Rudan, I.; Saaristo, T.E.; Sambrook, J.G.; Sanders, A.R.; Sanna, S.; Saramies, J.; Schipf, S.; Schreiber, S.; Schunkert, H.; Shin, S.-Y.; Signorini, S.; Sinisalo, J.; Skrobek, B.; Soranzo, N.; Stancakova, A.; Stark, K.; Stephens, J.C.; Stirrups, K.; Stolk, R.P.; Stumvoll, M.; Swift, A.J.; Theodoraki, E.V.; Thorand, B.; Tregouet, D.-A.; Tremoli, E.; Van der Klauw, M.M.; van Meurs, J.B.J.; Vermeulen, S.H.; Viikari, J.; Virtamo, J.; Vitart, V.; Waeber, G.; Wang, Z.; Widen, E.; Wild, S.H.; Willemsen, G.; Winkelmann, B.R.; Witteman, J.C.M.; Wolffenbuttel, B.H.R.; Wong, A.; Wright, A.F.; Zillikens, M.C.; Amouyel, P.; Boehm, B.O.; Boerwinkle, E.; Boomsma, D.I.; Caulfield, M.J.; Chanock, S.J.; Cupples, L.A.; Cusi, D.; Dedoussis, G.V.; Erdmann, J.; Eriksson, J.G.; Franks, P.W.; Froguel, P.; Gieger, C.; Gyllensten, U.; Hamsten, A.; Harris, T.B.; Hengstenberg, C.; Hicks, A.A.; Hingorani, A.; Hinney, A.; Hofman, A.; Hovingh, K.G.; Hveem, K.; Illig, T.; Jarvelin, M.-R.; Jockel, K.-H.; Keinanen-Kiukaanniemi, S.M.; Kiemeney, L.A.; Kuh, D.; Laakso, M.; Lehtimaki, T.; Levinson, D.F.; Martin, N.G.; Metspalu, A.; Morris, A.D.; Nieminen, M.S.; Njolstad, I.; Ohlsson, C.; Oldehinkel, A.J.; Ouwehand, W.H.; Palmer, L.J.; Penninx, B.; Power, C.; Province, M.A.; Psaty, B.M.; Qi, L.; Rauramaa, R.; Ridker, P.M.; Ripatti, S.; Salomaa, V.; Samani, N.J.; Snieder, H.; Sorensen, T.I.A.; Spector, T.D.; Stefansson, K.; Tonjes, A.; Tuomilehto, J.; Uitterlinden, A.G.; Uusitupa, M.; van der Harst, P.; Vollenweider, P.; Wallaschofski, H.; Wareham, N.J.; Watkins, H.; Wichmann, H.-E.; Wilson, J.F.; Abecasis, G.R.; Assimes, T.L.; Barroso, I.; Boehnke, M.; Borecki, I.B.; Deloukas, P.; Fox, C.S.; Frayling, T.; Groop, L.C.; Haritunian, T.; Heid, I.M.; Hunter, D.; Kaplan, R.C.; Karpe, F.; Moffatt, M.F.; Mohlke, K.L.; O'Connell, J.R.; Pawitan, Y.; Schadt, E.E.; Schlessinger, D.; Steinthorsdottir, V.; Strachan, D.P.; Thorsteinsdottir, U.; van Duijn, C.M.; Visscher, P.M.; Di Blasio, A.M.; Hirschhorn, J.N.; Lindgren, C.M.; Morris, A.P.; Meyre, D.; Scherag, A.; McCarthy, M.I.; Speliotes, E.K.; North, K.E.; Loos, R.J.F.; Ingelsson, E. url  doi
  Title Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture Type Journal Article
  Year 2013 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 45 Issue 5 Pages 501-512  
  Keywords *Anthropometry; Body Height/*genetics; Body Mass Index; Case-Control Studies; European Continental Ancestry Group/genetics; *Genetic Predisposition to Disease; *Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Obesity/*genetics; Phenotype; Polymorphism, Single Nucleotide/*genetics; *Quantitative Trait Loci; Waist-Hip Ratio  
  Abstract Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.  
  Address US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:23563607 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1466  
Permanent link to this record
 

 
Author (up) Dastani, Z.; Hivert, M.-F.; Timpson, N.; Perry, J.R.B.; Yuan, X.; Scott, R.A.; Henneman, P.; Heid, I.M.; Kizer, J.R.; Lyytikainen, L.-P.; Fuchsberger, C.; Tanaka, T.; Morris, A.P.; Small, K.; Isaacs, A.; Beekman, M.; Coassin, S.; Lohman, K.; Qi, L.; Kanoni, S.; Pankow, J.S.; Uh, H.-W.; Wu, Y.; Bidulescu, A.; Rasmussen-Torvik, L.J.; Greenwood, C.M.T.; Ladouceur, M.; Grimsby, J.; Manning, A.K.; Liu, C.-T.; Kooner, J.; Mooser, V.E.; Vollenweider, P.; Kapur, K.A.; Chambers, J.; Wareham, N.J.; Langenberg, C.; Frants, R.; Willems-Vandijk, K.; Oostra, B.A.; Willems, S.M.; Lamina, C.; Winkler, T.W.; Psaty, B.M.; Tracy, R.P.; Brody, J.; Chen, I.; Viikari, J.; Kahonen, M.; Pramstaller, P.P.; Evans, D.M.; St Pourcain, B.; Sattar, N.; Wood, A.R.; Bandinelli, S.; Carlson, O.D.; Egan, J.M.; Bohringer, S.; van Heemst, D.; Kedenko, L.; Kristiansson, K.; Nuotio, M.-L.; Loo, B.-M.; Harris, T.; Garcia, M.; Kanaya, A.; Haun, M.; Klopp, N.; Wichmann, H.-E.; Deloukas, P.; Katsareli, E.; Couper, D.J.; Duncan, B.B.; Kloppenburg, M.; Adair, L.S.; Borja, J.B.; Wilson, J.G.; Musani, S.; Guo, X.; Johnson, T.; Semple, R.; Teslovich, T.M.; Allison, M.A.; Redline, S.; Buxbaum, S.G.; Mohlke, K.L.; Meulenbelt, I.; Ballantyne, C.M.; Dedoussis, G.V.; Hu, F.B.; Liu, Y.; Paulweber, B.; Spector, T.D.; Slagboom, P.E.; Ferrucci, L.; Jula, A.; Perola, M.; Raitakari, O.; Florez, J.C.; Salomaa, V.; Eriksson, J.G.; Frayling, T.M.; Hicks, A.A.; Lehtimaki, T.; Smith, G.D.; Siscovick, D.S.; Kronenberg, F.; van Duijn, C.; Loos, R.J.F.; Waterworth, D.M.; Meigs, J.B.; Dupuis, J.; Richards, J.B.; Voight, B.F.; Scott, L.J.; Steinthorsdottir, V.; Dina, C.; Welch, R.P.; Zeggini, E.; Huth, C.; Aulchenko, Y.S.; Thorleifsson, G.; McCulloch, L.J.; Ferreira, T.; Grallert, H.; Amin, N.; Wu, G.; Willer, C.J.; Raychaudhuri, S.; McCarroll, S.A.; Hofmann, O.M.; Segre, A.V.; van Hoek, M.; Navarro, P.; Ardlie, K.; Balkau, B.; Benediktsson, R.; Bennett, A.J.; Blagieva, R.; Boerwinkle, E.; Bonnycastle, L.L.; Bostrom, K.B.; Bravenboer, B.; Bumpstead, S.; Burtt, N.P.; Charpentier, G.; Chines, P.S.; Cornelis, M.; Crawford, G.; Doney, A.S.F.; Elliott, K.S.; Elliott, A.L.; Erdos, M.R.; Fox, C.S.; Franklin, C.S.; Ganser, M.; Gieger, C.; Grarup, N.; Green, T.; Griffin, S.; Groves, C.J.; Guiducci, C.; Hadjadj, S.; Hassanali, N.; Herder, C.; Isomaa, B.; Jackson, A.U.; Johnson, P.R.V.; Jorgensen, T.; Kao, W.H.L.; Kong, A.; Kraft, P.; Kuusisto, J.; Lauritzen, T.; Li, M.; Lieverse, A.; Lindgren, C.M.; Lyssenko, V.; Marre, M.; Meitinger, T.; Midthjell, K.; Morken, M.A.; Narisu, N.; Nilsson, P.; Owen, K.R.; Payne, F.; Petersen, A.-K.; Platou, C.; Proenca, C.; Prokopenko, I.; Rathmann, W.; Rayner, N.W.; Robertson, N.R.; Rocheleau, G.; Roden, M.; Sampson, M.J.; Saxena, R.; Shields, B.M.; Shrader, P.; Sigurdsson, G.; Sparso, T.; Strassburger, K.; Stringham, H.M.; Sun, Q.; Swift, A.J.; Thorand, B.; Tichet, J.; Tuomi, T.; van Dam, R.M.; van Haeften, T.W.; van Herpt, T.; van Vliet-Ostaptchouk, J.V.; Walters, G.B.; Weedon, M.N.; Wijmenga, C.; Witteman, J.; Bergman, R.N.; Cauchi, S.; Collins, F.S.; Gloyn, A.L.; Gyllensten, U.; Hansen, T.; Hide, W.A.; Hitman, G.A.; Hofman, A.; Hunter, D.J.; Hveem, K.; Laakso, M.; Morris, A.D.; Palmer, C.N.A.; Rudan, I.; Sijbrands, E.; Stein, L.D.; Tuomilehto, J.; Uitterlinden, A.; Walker, M.; Watanabe, R.M.; Abecasis, G.R.; Boehm, B.O.; Campbell, H.; Daly, M.J.; Hattersley, A.T.; Pedersen, O.; Barroso, I.; Groop, L.; Sladek, R.; Thorsteinsdottir, U.; Wilson, J.F.; Illig, T.; Froguel, P.; van Duijn, C.M.; Stefansson, K.; Altshuler, D.; Boehnke, M.; McCarthy, M.I.; Soranzo, N.; Wheeler, E.; Glazer, N.L.; Bouatia-Naji, N.; Magi, R.; Randall, J.; Elliott, P.; Rybin, D.; Dehghan, A.; Hottenga, J.J.; Song, K.; Goel, A.; Lajunen, T.; Doney, A.; Cavalcanti-Proenca, C.; Kumari, M.; Timpson, N.J.; Zabena, C.; Ingelsson, E.; An, P.; O'Connell, J.; Luan, J.'an; Elliott, A.; McCarroll, S.A.; Roccasecca, R.M.; Pattou, F.; Sethupathy, P.; Ariyurek, Y.; Barter, P.; Beilby, J.P.; Ben-Shlomo, Y.; Bergmann, S.; Bochud, M.; Bonnefond, A.; Borch-Johnsen, K.; Bottcher, Y.; Brunner, E.; Bumpstead, S.J.; Chen, Y.-D.I.; Chines, P.; Clarke, R.; Coin, L.J.M.; Cooper, M.N.; Crisponi, L.; Day, I.N.M.; de Geus, E.J.C.; Delplanque, J.; Fedson, A.C.; Fischer-Rosinsky, A.; Forouhi, N.G.; Franzosi, M.G.; Galan, P.; Goodarzi, M.O.; Graessler, J.; Grundy, S.; Gwilliam, R.; Hallmans, G.; Hammond, N.; Han, X.; Hartikainen, A.-L.; Hayward, C.; Heath, S.C.; Hercberg, S.; Hillman, D.R.; Hingorani, A.D.; Hui, J.; Hung, J.; Kaakinen, M.; Kaprio, J.; Kesaniemi, Y.A.; Kivimaki, M.; Knight, B.; Koskinen, S.; Kovacs, P.; Kyvik, K.O.; Lathrop, G.M.; Lawlor, D.A.; Le Bacquer, O.; Lecoeur, C.; Li, Y.; Mahley, R.; Mangino, M.; Martinez-Larrad, M.T.; McAteer, J.B.; McPherson, R.; Meisinger, C.; Melzer, D.; Meyre, D.; Mitchell, B.D.; Mukherjee, S.; Naitza, S.; Neville, M.J.; Orru, M.; Pakyz, R.; Paolisso, G.; Pattaro, C.; Pearson, D.; Peden, J.F.; Pedersen, N.L.; Pfeiffer, A.F.H.; Pichler, I.; Polasek, O.; Posthuma, D.; Potter, S.C.; Pouta, A.; Province, M.A.; Rayner, N.W.; Rice, K.; Ripatti, S.; Rivadeneira, F.; Rolandsson, O.; Sandbaek, A.; Sandhu, M.; Sanna, S.; Sayer, A.A.; Scheet, P.; Seedorf, U.; Sharp, S.J.; Shields, B.; Sigurethsson, G.; Sijbrands, E.J.G.; Silveira, A.; Simpson, L.; Singleton, A.; Smith, N.L.; Sovio, U.; Swift, A.; Syddall, H.; Syvanen, A.-C.; Tonjes, A.; Uitterlinden, A.G.; van Dijk, K.W.; Varma, D.; Visvikis-Siest, S.; Vitart, V.; Vogelzangs, N.; Waeber, G.; Wagner, P.J.; Walley, A.; Ward, K.L.; Watkins, H.; Wild, S.H.; Willemsen, G.; Witteman, J.C.M.; Yarnell, J.W.G.; Zelenika, D.; Zethelius, B.; Zhai, G.; Zhao, J.H.; Zillikens, M.C.; Borecki, I.B.; Meneton, P.; Magnusson, P.K.E.; Nathan, D.M.; Williams, G.H.; Silander, K.; Bornstein, S.R.; Schwarz, P.; Spranger, J.; Karpe, F.; Shuldiner, A.R.; Cooper, C.; Serrano-Rios, M.; Lind, L.; Palmer, L.J.; Hu, F.B. 1st; Franks, P.W.; Ebrahim, S.; Marmot, M.; Kao, W.H.L.; Pramstaller, P.P.; Wright, A.F.; Stumvoll, M.; Hamsten, A.; Buchanan, T.A.; Valle, T.T.; Rotter, J.I.; Penninx, B.W.J.H.; Boomsma, D.I.; Cao, A.; Scuteri, A.; Schlessinger, D.; Uda, M.; Ruokonen, A.; Jarvelin, M.-R.; Peltonen, L.; Mooser, V.; Sladek, R.; Musunuru, K.; Smith, A.V.; Edmondson, A.C.; Stylianou, I.M.; Koseki, M.; Pirruccello, J.P.; Chasman, D.I.; Johansen, C.T.; Fouchier, S.W.; Peloso, G.M.; Barbalic, M.; Ricketts, S.L.; Bis, J.C.; Feitosa, M.F.; Orho-Melander, M.; Melander, O.; Li, X.; Li, M.; Cho, Y.S.; Go, M.J.; Kim, Y.J.; Lee, J.-Y.; Park, T.; Kim, K.; Sim, X.; Ong, R.T.-H.; Croteau-Chonka, D.C.; Lange, L.A.; Smith, J.D.; Ziegler, A.; Zhang, W.; Zee, R.Y.L.; Whitfield, J.B.; Thompson, J.R.; Surakka, I.; Spector, T.D.; Smit, J.H.; Sinisalo, J.; Scott, J.; Saharinen, J.; Sabatti, C.; Rose, L.M.; Roberts, R.; Rieder, M.; Parker, A.N.; Pare, G.; O'Donnell, C.J.; Nieminen, M.S.; Nickerson, D.A.; Montgomery, G.W.; McArdle, W.; Masson, D.; Martin, N.G.; Marroni, F.; Lucas, G.; Luben, R.; Lokki, M.-L.; Lettre, G.; Launer, L.J.; Lakatta, E.G.; Laaksonen, R.; Kyvik, K.O.; Konig, I.R.; Khaw, K.-T.; Kaplan, L.M.; Johansson, A.; Janssens, A.C.J.W.; Igl, W.; Hovingh, G.K.; Hengstenberg, C.; Havulinna, A.S.; Hastie, N.D.; Harris, T.B.; Haritunians, T.; Hall, A.S.; Groop, L.C.; Gonzalez, E.; Freimer, N.B.; Erdmann, J.; Ejebe, K.G.; Doring, A.; Dominiczak, A.F.; Demissie, S.; Deloukas, P.; de Faire, U.; Crawford, G.; Chen, Y.-der I.; Caulfield, M.J.; Boekholdt, S.M.; Assimes, T.L.; Quertermous, T.; Seielstad, M.; Wong, T.Y.; Tai, E.-S.; Feranil, A.B.; Kuzawa, C.W.; Taylor, H.A.J.; Gabriel, S.B.; Holm, H.; Gudnason, V.; Krauss, R.M.; Ordovas, J.M.; Munroe, P.B.; Kooner, J.S.; Tall, A.R.; Hegele, R.A.; Kastelein, J.J.P.; Schadt, E.E.; Strachan, D.P.; Reilly, M.P.; Samani, N.J.; Schunkert, H.; Cupples, L.A.; Sandhu, M.S.; Ridker, P.M.; Rader, D.J.; Kathiresan, S. url  doi
  Title Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals Type Journal Article
  Year 2012 Publication PLoS Genetics Abbreviated Journal PLoS Genet  
  Volume 8 Issue 3 Pages e1002607  
  Keywords Adiponectin/*blood/genetics; African Americans; Asian Continental Ancestry Group; Cholesterol, HDL/genetics; Diabetes Mellitus, Type 2/*genetics; European Continental Ancestry Group; Female; Gene Expression; Genetic Predisposition to Disease; *Genome-Wide Association Study; Glucose Tolerance Test; Humans; Insulin Resistance/genetics; Male; Metabolic Networks and Pathways; Polymorphism, Single Nucleotide; Waist-Hip Ratio  
  Abstract Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European ancestry to identify genes associated with metabolic disease. We identified 8 novel loci associated with adiponectin levels and confirmed 2 previously reported loci (P = 4.5x10(-8)-1.2x10(-43)). Using a novel method to combine data across ethnicities (N = 4,232 African Americans, N = 1,776 Asians, and N = 29,347 Europeans), we identified two additional novel loci. Expression analyses of 436 human adipocyte samples revealed that mRNA levels of 18 genes at candidate regions were associated with adiponectin concentrations after accounting for multiple testing (p<3x10(-4)). We next developed a multi-SNP genotypic risk score to test the association of adiponectin decreasing risk alleles on metabolic traits and diseases using consortia-level meta-analytic data. This risk score was associated with increased risk of T2D (p = 4.3x10(-3), n = 22,044), increased triglycerides (p = 2.6x10(-14), n = 93,440), increased waist-to-hip ratio (p = 1.8x10(-5), n = 77,167), increased glucose two hours post oral glucose tolerance testing (p = 4.4x10(-3), n = 15,234), increased fasting insulin (p = 0.015, n = 48,238), but with lower in HDL-cholesterol concentrations (p = 4.5x10(-13), n = 96,748) and decreased BMI (p = 1.4x10(-4), n = 121,335). These findings identify novel genetic determinants of adiponectin levels, which, taken together, influence risk of T2D and markers of insulin resistance.  
  Address Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada  
  Corporate Author GLGC Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1553-7390 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22479202; PMC3315470 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1516  
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Author (up) Graff, M.; Scott, R.A.; Justice, A.E.; Young, K.L.; Feitosa, M.F.; Barata, L.; Winkler, T.W.; Chu, A.Y.; Mahajan, A.; Hadley, D.; Xue, L.; Workalemahu, T.; Heard-Costa, N.L.; den Hoed, M.; Ahluwalia, T.S.; Qi, Q.; Ngwa, J.S.; Renstrom, F.; Quaye, L.; Eicher, J.D.; Hayes, J.E.; Cornelis, M.; Kutalik, Z.; Lim, E.; Luan, J.'an; Huffman, J.E.; Zhang, W.; Zhao, W.; Griffin, P.J.; Haller, T.; Ahmad, S.; Marques-Vidal, P.M.; Bien, S.; Yengo, L.; Teumer, A.; Smith, A.V.; Kumari, M.; Harder, M.N.; Justesen, J.M.; Kleber, M.E.; Hollensted, M.; Lohman, K.; Rivera, N.V.; Whitfield, J.B.; Zhao, J.H.; Stringham, H.M.; Lyytikainen, L.-P.; Huppertz, C.; Willemsen, G.; Peyrot, W.J.; Wu, Y.; Kristiansson, K.; Demirkan, A.; Fornage, M.; Hassinen, M.; Bielak, L.F.; Cadby, G.; Tanaka, T.; Magi, R.; van der Most, P.J.; Jackson, A.U.; Bragg-Gresham, J.L.; Vitart, V.; Marten, J.; Navarro, P.; Bellis, C.; Pasko, D.; Johansson, A.; Snitker, S.; Cheng, Y.-C.; Eriksson, J.; Lim, U.; Aadahl, M.; Adair, L.S.; Amin, N.; Balkau, B.; Auvinen, J.; Beilby, J.; Bergman, R.N.; Bergmann, S.; Bertoni, A.G.; Blangero, J.; Bonnefond, A.; Bonnycastle, L.L.; Borja, J.B.; Brage, S.; Busonero, F.; Buyske, S.; Campbell, H.; Chines, P.S.; Collins, F.S.; Corre, T.; Smith, G.D.; Delgado, G.E.; Dueker, N.; Dorr, M.; Ebeling, T.; Eiriksdottir, G.; Esko, T.; Faul, J.D.; Fu, M.; Faerch, K.; Gieger, C.; Glaser, S.; Gong, J.; Gordon-Larsen, P.; Grallert, H.; Grammer, T.B.; Grarup, N.; van Grootheest, G.; Harald, K.; Hastie, N.D.; Havulinna, A.S.; Hernandez, D.; Hindorff, L.; Hocking, L.J.; Holmens, O.L.; Holzapfel, C.; Hottenga, J.J.; Huang, J.; Huang, T.; Hui, J.; Huth, C.; Hutri-Kahonen, N.; James, A.L.; Jansson, J.-O.; Jhun, M.A.; Juonala, M.; Kinnunen, L.; Koistinen, H.A.; Kolcic, I.; Komulainen, P.; Kuusisto, J.; Kvaloy, K.; Kahonen, M.; Lakka, T.A.; Launer, L.J.; Lehne, B.; Lindgren, C.M.; Lorentzon, M.; Luben, R.; Marre, M.; Milaneschi, Y.; Monda, K.L.; Montgomery, G.W.; De Moor, M.H.M.; Mulas, A.; Muller-Nurasyid, M.; Musk, A.W.; Mannikko, R.; Mannisto, S.; Narisu, N.; Nauck, M.; Nettleton, J.A.; Nolte, I.M.; Oldehinkel, A.J.; Olden, M.; Ong, K.K.; Padmanabhan, S.; Paternoster, L.; Perez, J.; Perola, M.; Peters, A.; Peters, U.; Peyser, P.A.; Prokopenko, I.; Puolijoki, H.; Raitakari, O.T.; Rankinen, T.; Rasmussen-Torvik, L.J.; Rawal, R.; Ridker, P.M.; Rose, L.M.; Rudan, I.; Sarti, C.; Sarzynski, M.A.; Savonen, K.; Scott, W.R.; Sanna, S.; Shuldiner, A.R.; Sidney, S.; Silbernagel, G.; Smith, B.H.; Smith, J.A.; Snieder, H.; Stancakova, A.; Sternfeld, B.; Swift, A.J.; Tammelin, T.; Tan, S.-T.; Thorand, B.; Thuillier, D.; Vandenput, L.; Vestergaard, H.; van Vliet-Ostaptchouk, J.V.; Vohl, M.-C.; Volker, U.; Waeber, G.; Walker, M.; Wild, S.; Wong, A.; Wright, A.F.; Zillikens, M.C.; Zubair, N.; Haiman, C.A.; Lemarchand, L.; Gyllensten, U.; Ohlsson, C.; Hofman, A.; Rivadeneira, F.; Uitterlinden, A.G.; Perusse, L.; Wilson, J.F.; Hayward, C.; Polasek, O.; Cucca, F.; Hveem, K.; Hartman, C.A.; Tonjes, A.; Bandinelli, S.; Palmer, L.J.; Kardia, S.L.R.; Rauramaa, R.; Sorensen, T.I.A.; Tuomilehto, J.; Salomaa, V.; Penninx, B.W.J.H.; de Geus, E.J.C.; Boomsma, D.I.; Lehtimaki, T.; Mangino, M.; Laakso, M.; Bouchard, C.; Martin, N.G.; Kuh, D.; Liu, Y.; Linneberg, A.; Marz, W.; Strauch, K.; Kivimaki, M.; Harris, T.B.; Gudnason, V.; Volzke, H.; Qi, L.; Jarvelin, M.-R.; Chambers, J.C.; Kooner, J.S.; Froguel, P.; Kooperberg, C.; Vollenweider, P.; Hallmans, G.; Hansen, T.; Pedersen, O.; Metspalu, A.; Wareham, N.J.; Langenberg, C.; Weir, D.R.; Porteous, D.J.; Boerwinkle, E.; Chasman, D.I.; Abecasis, G.R.; Barroso, I.; McCarthy, M.I.; Frayling, T.M.; O'Connell, J.R.; van Duijn, C.M.; Boehnke, M.; Heid, I.M.; Mohlke, K.L.; Strachan, D.P.; Fox, C.S.; Liu, C.-T.; Hirschhorn, J.N.; Klein, R.J.; Johnson, A.D.; Borecki, I.B.; Franks, P.W.; North, K.E.; Cupples, L.A.; Loos, R.J.F.; Kilpelainen, T.O. url  doi
  Title Genome-wide physical activity interactions in adiposity – A meta-analysis of 200,452 adults Type Meta-Analysis
  Year 2017 Publication PLoS Genetics Abbreviated Journal PLoS Genet  
  Volume 13 Issue 4 Pages e1006528  
  Keywords Adiposity/*genetics/physiology; Alpha-Ketoglutarate-Dependent Dioxygenase FTO/*genetics; Body Mass Index; Epigenomics; *Exercise; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Male; Obesity/*genetics/physiopathology; Waist Circumference; Waist-Hip Ratio  
  Abstract Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.  
  Address The Department of Preventive Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America  
  Corporate Author PAGE Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1553-7390 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:28448500; PMCID:PMC5407576 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1909  
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Author (up) Justice, A.E.; Winkler, T.W.; Feitosa, M.F.; Graff, M.; Fisher, V.A.; Young, K.; Barata, L.; Deng, X.; Czajkowski, J.; Hadley, D.; Ngwa, J.S.; Ahluwalia, T.S.; Chu, A.Y.; Heard-Costa, N.L.; Lim, E.; Perez, J.; Eicher, J.D.; Kutalik, Z.; Xue, L.; Mahajan, A.; Renstrom, F.; Wu, J.; Qi, Q.; Ahmad, S.; Alfred, T.; Amin, N.; Bielak, L.F.; Bonnefond, A.; Bragg, J.; Cadby, G.; Chittani, M.; Coggeshall, S.; Corre, T.; Direk, N.; Eriksson, J.; Fischer, K.; Gorski, M.; Neergaard Harder, M.; Horikoshi, M.; Huang, T.; Huffman, J.E.; Jackson, A.U.; Justesen, J.M.; Kanoni, S.; Kinnunen, L.; Kleber, M.E.; Komulainen, P.; Kumari, M.; Lim, U.; Luan, J.'an; Lyytikainen, L.-P.; Mangino, M.; Manichaikul, A.; Marten, J.; Middelberg, R.P.S.; Muller-Nurasyid, M.; Navarro, P.; Perusse, L.; Pervjakova, N.; Sarti, C.; Smith, A.V.; Smith, J.A.; Stancakova, A.; Strawbridge, R.J.; Stringham, H.M.; Sung, Y.J.; Tanaka, T.; Teumer, A.; Trompet, S.; van der Laan, S.W.; van der Most, P.J.; Van Vliet-Ostaptchouk, J.V.; Vedantam, S.L.; Verweij, N.; Vink, J.M.; Vitart, V.; Wu, Y.; Yengo, L.; Zhang, W.; Hua Zhao, J.; Zimmermann, M.E.; Zubair, N.; Abecasis, G.R.; Adair, L.S.; Afaq, S.; Afzal, U.; Bakker, S.J.L.; Bartz, T.M.; Beilby, J.; Bergman, R.N.; Bergmann, S.; Biffar, R.; Blangero, J.; Boerwinkle, E.; Bonnycastle, L.L.; Bottinger, E.; Braga, D.; Buckley, B.M.; Buyske, S.; Campbell, H.; Chambers, J.C.; Collins, F.S.; Curran, J.E.; de Borst, G.J.; de Craen, A.J.M.; de Geus, E.J.C.; Dedoussis, G.; Delgado, G.E.; den Ruijter, H.M.; Eiriksdottir, G.; Eriksson, A.L.; Esko, T.; Faul, J.D.; Ford, I.; Forrester, T.; Gertow, K.; Gigante, B.; Glorioso, N.; Gong, J.; Grallert, H.; Grammer, T.B.; Grarup, N.; Haitjema, S.; Hallmans, G.; Hamsten, A.; Hansen, T.; Harris, T.B.; Hartman, C.A.; Hassinen, M.; Hastie, N.D.; Heath, A.C.; Hernandez, D.; Hindorff, L.; Hocking, L.J.; Hollensted, M.; Holmen, O.L.; Homuth, G.; Jan Hottenga, J.; Huang, J.; Hung, J.; Hutri-Kahonen, N.; Ingelsson, E.; James, A.L.; Jansson, J.-O.; Jarvelin, M.-R.; Jhun, M.A.; Jorgensen, M.E.; Juonala, M.; Kahonen, M.; Karlsson, M.; Koistinen, H.A.; Kolcic, I.; Kolovou, G.; Kooperberg, C.; Kramer, B.K.; Kuusisto, J.; Kvaloy, K.; Lakka, T.A.; Langenberg, C.; Launer, L.J.; Leander, K.; Lee, N.R.; Lind, L.; Lindgren, C.M.; Linneberg, A.; Lobbens, S.; Loh, M.; Lorentzon, M.; Luben, R.; Lubke, G.; Ludolph-Donislawski, A.; Lupoli, S.; Madden, P.A.F.; Mannikko, R.; Marques-Vidal, P.; Martin, N.G.; McKenzie, C.A.; McKnight, B.; Mellstrom, D.; Menni, C.; Montgomery, G.W.; Musk, A.B.; Narisu, N.; Nauck, M.; Nolte, I.M.; Oldehinkel, A.J.; Olden, M.; Ong, K.K.; Padmanabhan, S.; Peyser, P.A.; Pisinger, C.; Porteous, D.J.; Raitakari, O.T.; Rankinen, T.; Rao, D.C.; Rasmussen-Torvik, L.J.; Rawal, R.; Rice, T.; Ridker, P.M.; Rose, L.M.; Bien, S.A.; Rudan, I.; Sanna, S.; Sarzynski, M.A.; Sattar, N.; Savonen, K.; Schlessinger, D.; Scholtens, S.; Schurmann, C.; Scott, R.A.; Sennblad, B.; Siemelink, M.A.; Silbernagel, G.; Slagboom, P.E.; Snieder, H.; Staessen, J.A.; Stott, D.J.; Swertz, M.A.; Swift, A.J.; Taylor, K.D.; Tayo, B.O.; Thorand, B.; Thuillier, D.; Tuomilehto, J.; Uitterlinden, A.G.; Vandenput, L.; Vohl, M.-C.; Volzke, H.; Vonk, J.M.; Waeber, G.; Waldenberger, M.; Westendorp, R.G.J.; Wild, S.; Willemsen, G.; Wolffenbuttel, B.H.R.; Wong, A.; Wright, A.F.; Zhao, W.; Zillikens, M.C.; Baldassarre, D.; Balkau, B.; Bandinelli, S.; Boger, C.A.; Boomsma, D.I.; Bouchard, C.; Bruinenberg, M.; Chasman, D.I.; Chen, Y.-D.I.; Chines, P.S.; Cooper, R.S.; Cucca, F.; Cusi, D.; Faire, U. de; Ferrucci, L.; Franks, P.W.; Froguel, P.; Gordon-Larsen, P.; Grabe, H.-J.; Gudnason, V.; Haiman, C.A.; Hayward, C.; Hveem, K.; Johnson, A.D.; Wouter Jukema, J.; Kardia, S.L.R.; Kivimaki, M.; Kooner, J.S.; Kuh, D.; Laakso, M.; Lehtimaki, T.; Marchand, L.L.; Marz, W.; McCarthy, M.I.; Metspalu, A.; Morris, A.P.; Ohlsson, C.; Palmer, L.J.; Pasterkamp, G.; Pedersen, O.; Peters, A.; Peters, U.; Polasek, O.; Psaty, B.M.; Qi, L.; Rauramaa, R.; Smith, B.H.; Sorensen, T.I.A.; Strauch, K.; Tiemeier, H.; Tremoli, E.; van der Harst, P.; Vestergaard, H.; Vollenweider, P.; Wareham, N.J.; Weir, D.R.; Whitfield, J.B.; Wilson, J.F.; Tyrrell, J.; Frayling, T.M.; Barroso, I.; Boehnke, M.; Deloukas, P.; Fox, C.S.; Hirschhorn, J.N.; Hunter, D.J.; Spector, T.D.; Strachan, D.P.; van Duijn, C.M.; Heid, I.M.; Mohlke, K.L.; Marchini, J.; Loos, R.J.F.; Kilpelainen, T.O.; Liu, C.-T.; Borecki, I.B.; North, K.E.; Cupples, L.A. url  doi
  Title Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits Type Journal Article
  Year 2017 Publication Nature Communications Abbreviated Journal Nat Commun  
  Volume 8 Issue Pages 14977  
  Keywords  
  Abstract Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.  
  Address NHLBI Framingham Heart Study, Framingham, Massachusetts, 01702 USA  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2041-1723 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:28443625; PMCID:PMC5414044 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1937  
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Author (up) Liu, D.J.; Peloso, G.M.; Yu, H.; Butterworth, A.S.; Wang, X.; Mahajan, A.; Saleheen, D.; Emdin, C.; Alam, D.; Alves, A.C.; Amouyel, P.; Di Angelantonio, E.; Arveiler, D.; Assimes, T.L.; Auer, P.L.; Baber, U.; Ballantyne, C.M.; Bang, L.E.; Benn, M.; Bis, J.C.; Boehnke, M.; Boerwinkle, E.; Bork-Jensen, J.; Bottinger, E.P.; Brandslund, I.; Brown, M.; Busonero, F.; Caulfield, M.J.; Chambers, J.C.; Chasman, D.I.; Chen, Y.E.; Chen, Y.-D.I.; Chowdhury, R.; Christensen, C.; Chu, A.Y.; Connell, J.M.; Cucca, F.; Cupples, L.A.; Damrauer, S.M.; Davies, G.; Deary, I.J.; Dedoussis, G.; Denny, J.C.; Dominiczak, A.; Dube, M.-P.; Ebeling, T.; Eiriksdottir, G.; Esko, T.; Farmaki, A.-E.; Feitosa, M.F.; Ferrario, M.; Ferrieres, J.; Ford, I.; Fornage, M.; Franks, P.W.; Frayling, T.M.; Frikke-Schmidt, R.; Fritsche, L.G.; Frossard, P.; Fuster, V.; Ganesh, S.K.; Gao, W.; Garcia, M.E.; Gieger, C.; Giulianini, F.; Goodarzi, M.O.; Grallert, H.; Grarup, N.; Groop, L.; Grove, M.L.; Gudnason, V.; Hansen, T.; Harris, T.B.; Hayward, C.; Hirschhorn, J.N.; Holmen, O.L.; Huffman, J.; Huo, Y.; Hveem, K.; Jabeen, S.; Jackson, A.U.; Jakobsdottir, J.; Jarvelin, M.-R.; Jensen, G.B.; Jorgensen, M.E.; Jukema, J.W.; Justesen, J.M.; Kamstrup, P.R.; Kanoni, S.; Karpe, F.; Kee, F.; Khera, A.V.; Klarin, D.; Koistinen, H.A.; Kooner, J.S.; Kooperberg, C.; Kuulasmaa, K.; Kuusisto, J.; Laakso, M.; Lakka, T.; Langenberg, C.; Langsted, A.; Launer, L.J.; Lauritzen, T.; Liewald, D.C.M.; Lin, L.A.; Linneberg, A.; Loos, R.J.F.; Lu, Y.; Lu, X.; Magi, R.; Malarstig, A.; Manichaikul, A.; Manning, A.K.; Mantyselka, P.; Marouli, E.; Masca, N.G.D.; Maschio, A.; Meigs, J.B.; Melander, O.; Metspalu, A.; Morris, A.P.; Morrison, A.C.; Mulas, A.; Muller-Nurasyid, M.; Munroe, P.B.; Neville, M.J.; Nielsen, J.B.; Nielsen, S.F.; Nordestgaard, B.G.; Ordovas, J.M.; Mehran, R.; O'Donnell, C.J.; Orho-Melander, M.; Molony, C.M.; Muntendam, P.; Padmanabhan, S.; Palmer, C.N.A.; Pasko, D.; Patel, A.P.; Pedersen, O.; Perola, M.; Peters, A.; Pisinger, C.; Pistis, G.; Polasek, O.; Poulter, N.; Psaty, B.M.; Rader, D.J.; Rasheed, A.; Rauramaa, R.; Reilly, D.F.; Reiner, A.P.; Renstrom, F.; Rich, S.S.; Ridker, P.M.; Rioux, J.D.; Robertson, N.R.; Roden, D.M.; Rotter, J.I.; Rudan, I.; Salomaa, V.; Samani, N.J.; Sanna, S.; Sattar, N.; Schmidt, E.M.; Scott, R.A.; Sever, P.; Sevilla, R.S.; Shaffer, C.M.; Sim, X.; Sivapalaratnam, S.; Small, K.S.; Smith, A.V.; Smith, B.H.; Somayajula, S.; Southam, L.; Spector, T.D.; Speliotes, E.K.; Starr, J.M.; Stirrups, K.E.; Stitziel, N.; Strauch, K.; Stringham, H.M.; Surendran, P.; Tada, H.; Tall, A.R.; Tang, H.; Tardif, J.-C.; Taylor, K.D.; Trompet, S.; Tsao, P.S.; Tuomilehto, J.; Tybjaerg-Hansen, A.; van Zuydam, N.R.; Varbo, A.; Varga, T.V.; Virtamo, J.; Waldenberger, M.; Wang, N.; Wareham, N.J.; Warren, H.R.; Weeke, P.E.; Weinstock, J.; Wessel, J.; Wilson, J.G.; Wilson, P.W.F.; Xu, M.; Yaghootkar, H.; Young, R.; Zeggini, E.; Zhang, H.; Zheng, N.S.; Zhang, W.; Zhang, Y.; Zhou, W.; Zhou, Y.; Zoledziewska, M.; Howson, J.M.M.; Danesh, J.; McCarthy, M.I.; Cowan, C.A.; Abecasis, G.; Deloukas, P.; Musunuru, K.; Willer, C.J.; Kathiresan, S. url  doi
  Title Exome-wide association study of plasma lipids in >300,000 individuals Type Journal Article
  Year 2017 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 49 Issue 12 Pages 1758-1766  
  Keywords Coronary Artery Disease/blood/genetics; Diabetes Mellitus, Type 2/blood/genetics; Exome/*genetics; Genetic Association Studies/*methods; Genetic Predisposition to Disease/genetics; *Genetic Variation; Genotype; Humans; Lipids/*blood; Macular Degeneration/blood/genetics; Phenotype; Risk Factors  
  Abstract We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.  
  Address Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA  
  Corporate Author VA Million Veteran Program Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:29083408; PMCID:PMC5709146 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1943  
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Author (up) Locke, A.E.; Kahali, B.; Berndt, S.I.; Justice, A.E.; Pers, T.H.; Day, F.R.; Powell, C.; Vedantam, S.; Buchkovich, M.L.; Yang, J.; Croteau-Chonka, D.C.; Esko, T.; Fall, T.; Ferreira, T.; Gustafsson, S.; Kutalik, Z.; Luan, J.'an; Magi, R.; Randall, J.C.; Winkler, T.W.; Wood, A.R.; Workalemahu, T.; Faul, J.D.; Smith, J.A.; Hua Zhao, J.; Zhao, W.; Chen, J.; Fehrmann, R.; Hedman, A.K.; Karjalainen, J.; Schmidt, E.M.; Absher, D.; Amin, N.; Anderson, D.; Beekman, M.; Bolton, J.L.; Bragg-Gresham, J.L.; Buyske, S.; Demirkan, A.; Deng, G.; Ehret, G.B.; Feenstra, B.; Feitosa, M.F.; Fischer, K.; Goel, A.; Gong, J.; Jackson, A.U.; Kanoni, S.; Kleber, M.E.; Kristiansson, K.; Lim, U.; Lotay, V.; Mangino, M.; Mateo Leach, I.; Medina-Gomez, C.; Medland, S.E.; Nalls, M.A.; Palmer, C.D.; Pasko, D.; Pechlivanis, S.; Peters, M.J.; Prokopenko, I.; Shungin, D.; Stancakova, A.; Strawbridge, R.J.; Ju Sung, Y.; Tanaka, T.; Teumer, A.; Trompet, S.; van der Laan, S.W.; van Setten, J.; Van Vliet-Ostaptchouk, J.V.; Wang, Z.; Yengo, L.; Zhang, W.; Isaacs, A.; Albrecht, E.; Arnlov, J.; Arscott, G.M.; Attwood, A.P.; Bandinelli, S.; Barrett, A.; Bas, I.N.; Bellis, C.; Bennett, A.J.; Berne, C.; Blagieva, R.; Bluher, M.; Bohringer, S.; Bonnycastle, L.L.; Bottcher, Y.; Boyd, H.A.; Bruinenberg, M.; Caspersen, I.H.; Ida Chen, Y.-D.; Clarke, R.; Warwick Daw, E.; de Craen, A.J.M.; Delgado, G.; Dimitriou, M.; Doney, A.S.F.; Eklund, N.; Estrada, K.; Eury, E.; Folkersen, L.; Fraser, R.M.; Garcia, M.E.; Geller, F.; Giedraitis, V.; Gigante, B.; Go, A.S.; Golay, A.; Goodall, A.H.; Gordon, S.D.; Gorski, M.; Grabe, H.-J.; Grallert, H.; Grammer, T.B.; Grassler, J.; Gronberg, H.; Groves, C.J.; Gusto, G.; Haessler, J.; Hall, P.; Haller, T.; Hallmans, G.; Hartman, C.A.; Hassinen, M.; Hayward, C.; Heard-Costa, N.L.; Helmer, Q.; Hengstenberg, C.; Holmen, O.; Hottenga, J.-J.; James, A.L.; Jeff, J.M.; Johansson, A.; Jolley, J.; Juliusdottir, T.; Kinnunen, L.; Koenig, W.; Koskenvuo, M.; Kratzer, W.; Laitinen, J.; Lamina, C.; Leander, K.; Lee, N.R.; Lichtner, P.; Lind, L.; Lindstrom, J.; Sin Lo, K.; Lobbens, S.; Lorbeer, R.; Lu, Y.; Mach, F.; Magnusson, P.K.E.; Mahajan, A.; McArdle, W.L.; McLachlan, S.; Menni, C.; Merger, S.; Mihailov, E.; Milani, L.; Moayyeri, A.; Monda, K.L.; Morken, M.A.; Mulas, A.; Muller, G.; Muller-Nurasyid, M.; Musk, A.W.; Nagaraja, R.; Nothen, M.M.; Nolte, I.M.; Pilz, S.; Rayner, N.W.; Renstrom, F.; Rettig, R.; Ried, J.S.; Ripke, S.; Robertson, N.R.; Rose, L.M.; Sanna, S.; Scharnagl, H.; Scholtens, S.; Schumacher, F.R.; Scott, W.R.; Seufferlein, T.; Shi, J.; Vernon Smith, A.; Smolonska, J.; Stanton, A.V.; Steinthorsdottir, V.; Stirrups, K.; Stringham, H.M.; Sundstrom, J.; Swertz, M.A.; Swift, A.J.; Syvanen, A.-C.; Tan, S.-T.; Tayo, B.O.; Thorand, B.; Thorleifsson, G.; Tyrer, J.P.; Uh, H.-W.; Vandenput, L.; Verhulst, F.C.; Vermeulen, S.H.; Verweij, N.; Vonk, J.M.; Waite, L.L.; Warren, H.R.; Waterworth, D.; Weedon, M.N.; Wilkens, L.R.; Willenborg, C.; Wilsgaard, T.; Wojczynski, M.K.; Wong, A.; Wright, A.F.; Zhang, Q.; Brennan, E.P.; Choi, M.; Dastani, Z.; Drong, A.W.; Eriksson, P.; Franco-Cereceda, A.; Gadin, J.R.; Gharavi, A.G.; Goddard, M.E.; Handsaker, R.E.; Huang, J.; Karpe, F.; Kathiresan, S.; Keildson, S.; Kiryluk, K.; Kubo, M.; Lee, J.-Y.; Liang, L.; Lifton, R.P.; Ma, B.; McCarroll, S.A.; McKnight, A.J.; Min, J.L.; Moffatt, M.F.; Montgomery, G.W.; Murabito, J.M.; Nicholson, G.; Nyholt, D.R.; Okada, Y.; Perry, J.R.B.; Dorajoo, R.; Reinmaa, E.; Salem, R.M.; Sandholm, N.; Scott, R.A.; Stolk, L.; Takahashi, A.; Tanaka, T.; Van't Hooft, F.M.; Vinkhuyzen, A.A.E.; Westra, H.-J.; Zheng, W.; Zondervan, K.T.; Heath, A.C.; Arveiler, D.; Bakker, S.J.L.; Beilby, J.; Bergman, R.N.; Blangero, J.; Bovet, P.; Campbell, H.; Caulfield, M.J.; Cesana, G.; Chakravarti, A.; Chasman, D.I.; Chines, P.S.; Collins, F.S.; Crawford, D.C.; Adrienne Cupples, L.; Cusi, D.; Danesh, J.; de Faire, U.; den Ruijter, H.M.; Dominiczak, A.F.; Erbel, R.; Erdmann, J.; Eriksson, J.G.; Farrall, M.; Felix, S.B.; Ferrannini, E.; Ferrieres, J.; Ford, I.; Forouhi, N.G.; Forrester, T.; Franco, O.H.; Gansevoort, R.T.; Gejman, P.V.; Gieger, C.; Gottesman, O.; Gudnason, V.; Gyllensten, U.; Hall, A.S.; Harris, T.B.; Hattersley, A.T.; Hicks, A.A.; Hindorff, L.A.; Hingorani, A.D.; Hofman, A.; Homuth, G.; Kees Hovingh, G.; Humphries, S.E.; Hunt, S.C.; Hypponen, E.; Illig, T.; Jacobs, K.B.; Jarvelin, M.-R.; Jockel, K.-H.; Johansen, B.; Jousilahti, P.; Wouter Jukema, J.; Jula, A.M.; Kaprio, J.; Kastelein, J.J.P.; Keinanen-Kiukaanniemi, S.M.; Kiemeney, L.A.; Knekt, P.; Kooner, J.S.; Kooperberg, C.; Kovacs, P.; Kraja, A.T.; Kumari, M.; Kuusisto, J.; Lakka, T.A.; Langenberg, C.; Le Marchand, L.; Lehtimaki, T.; Lyssenko, V.; Mannisto, S.; Marette, A.; Matise, T.C.; McKenzie, C.A.; McKnight, B.; Moll, F.L.; Morris, A.D.; Morris, A.P.; Murray, J.C.; Nelis, M.; Ohlsson, C.; Oldehinkel, A.J.; Ong, K.K.; Madden, P.A.F.; Pasterkamp, G.; Peden, J.F.; Peters, A.; Postma, D.S.; Pramstaller, P.P.; Price, J.F.; Qi, L.; Raitakari, O.T.; Rankinen, T.; Rao, D.C.; Rice, T.K.; Ridker, P.M.; Rioux, J.D.; Ritchie, M.D.; Rudan, I.; Salomaa, V.; Samani, N.J.; Saramies, J.; Sarzynski, M.A.; Schunkert, H.; Schwarz, P.E.H.; Sever, P.; Shuldiner, A.R.; Sinisalo, J.; Stolk, R.P.; Strauch, K.; Tonjes, A.; Tregouet, D.-A.; Tremblay, A.; Tremoli, E.; Virtamo, J.; Vohl, M.-C.; Volker, U.; Waeber, G.; Willemsen, G.; Witteman, J.C.; Zillikens, M.C.; Adair, L.S.; Amouyel, P.; Asselbergs, F.W.; Assimes, T.L.; Bochud, M.; Boehm, B.O.; Boerwinkle, E.; Bornstein, S.R.; Bottinger, E.P.; Bouchard, C.; Cauchi, S.; Chambers, J.C.; Chanock, S.J.; Cooper, R.S.; de Bakker, P.I.W.; Dedoussis, G.; Ferrucci, L.; Franks, P.W.; Froguel, P.; Groop, L.C.; Haiman, C.A.; Hamsten, A.; Hui, J.; Hunter, D.J.; Hveem, K.; Kaplan, R.C.; Kivimaki, M.; Kuh, D.; Laakso, M.; Liu, Y.; Martin, N.G.; Marz, W.; Melbye, M.; Metspalu, A.; Moebus, S.; Munroe, P.B.; Njolstad, I.; Oostra, B.A.; Palmer, C.N.A.; Pedersen, N.L.; Perola, M.; Perusse, L.; Peters, U.; Power, C.; Quertermous, T.; Rauramaa, R.; Rivadeneira, F.; Saaristo, T.E.; Saleheen, D.; Sattar, N.; Schadt, E.E.; Schlessinger, D.; Eline Slagboom, P.; Snieder, H.; Spector, T.D.; Thorsteinsdottir, U.; Stumvoll, M.; Tuomilehto, J.; Uitterlinden, A.G.; Uusitupa, M.; van der Harst, P.; Walker, M.; Wallaschofski, H.; Wareham, N.J.; Watkins, H.; Weir, D.R.; Wichmann, H.-E.; Wilson, J.F.; Zanen, P.; Borecki, I.B.; Deloukas, P.; Fox, C.S.; Heid, I.M.; O'Connell, J.R.; Strachan, D.P.; Stefansson, K.; van Duijn, C.M.; Abecasis, G.R.; Franke, L.; Frayling, T.M.; McCarthy, M.I.; Visscher, P.M.; Scherag, A.; Willer, C.J.; Boehnke, M.; Mohlke, K.L.; Lindgren, C.M.; Beckmann, J.S.; Barroso, I.; North, K.E.; Ingelsson, E.; Hirschhorn, J.N.; Loos, R.J.F.; Speliotes, E.K. url  doi
  Title Genetic studies of body mass index yield new insights for obesity biology Type Journal Article
  Year 2015 Publication Nature Abbreviated Journal Nature  
  Volume 518 Issue 7538 Pages 197-206  
  Keywords HUNT3; obesity; genetics  
  Abstract Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 x 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for approximately 2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.  
  Address Department of Internal Medicine, Division of Gastroenterology, and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA  
  Corporate Author International Endogene Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0028-0836 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25673413 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1673  
Permanent link to this record
 

 
Author (up) Marouli, E.; Graff, M.; Medina-Gomez, C.; Lo, K.S.; Wood, A.R.; Kjaer, T.R.; Fine, R.S.; Lu, Y.; Schurmann, C.; Highland, H.M.; Rueger, S.; Thorleifsson, G.; Justice, A.E.; Lamparter, D.; Stirrups, K.E.; Turcot, V.; Young, K.L.; Winkler, T.W.; Esko, T.; Karaderi, T.; Locke, A.E.; Masca, N.G.D.; Ng, M.C.Y.; Mudgal, P.; Rivas, M.A.; Vedantam, S.; Mahajan, A.; Guo, X.; Abecasis, G.; Aben, K.K.; Adair, L.S.; Alam, D.S.; Albrecht, E.; Allin, K.H.; Allison, M.; Amouyel, P.; Appel, E.V.; Arveiler, D.; Asselbergs, F.W.; Auer, P.L.; Balkau, B.; Banas, B.; Bang, L.E.; Benn, M.; Bergmann, S.; Bielak, L.F.; Bluher, M.; Boeing, H.; Boerwinkle, E.; Boger, C.A.; Bonnycastle, L.L.; Bork-Jensen, J.; Bots, M.L.; Bottinger, E.P.; Bowden, D.W.; Brandslund, I.; Breen, G.; Brilliant, M.H.; Broer, L.; Burt, A.A.; Butterworth, A.S.; Carey, D.J.; Caulfield, M.J.; Chambers, J.C.; Chasman, D.I.; Chen, Y.-D.I.; Chowdhury, R.; Christensen, C.; Chu, A.Y.; Cocca, M.; Collins, F.S.; Cook, J.P.; Corley, J.; Galbany, J.C.; Cox, A.J.; Cuellar-Partida, G.; Danesh, J.; Davies, G.; de Bakker, P.I.W.; de Borst, G.J.; de Denus, S.; de Groot, M.C.H.; de Mutsert, R.; Deary, I.J.; Dedoussis, G.; Demerath, E.W.; den Hollander, A.I.; Dennis, J.G.; Di Angelantonio, E.; Drenos, F.; Du, M.; Dunning, A.M.; Easton, D.F.; Ebeling, T.; Edwards, T.L.; Ellinor, P.T.; Elliott, P.; Evangelou, E.; Farmaki, A.-E.; Faul, J.D.; Feitosa, M.F.; Feng, S.; Ferrannini, E.; Ferrario, M.M.; Ferrieres, J.; Florez, J.C.; Ford, I.; Fornage, M.; Franks, P.W.; Frikke-Schmidt, R.; Galesloot, T.E.; Gan, W.; Gandin, I.; Gasparini, P.; Giedraitis, V.; Giri, A.; Girotto, G.; Gordon, S.D.; Gordon-Larsen, P.; Gorski, M.; Grarup, N.; Grove, M.L.; Gudnason, V.; Gustafsson, S.; Hansen, T.; Harris, K.M.; Harris, T.B.; Hattersley, A.T.; Hayward, C.; He, L.; Heid, I.M.; Heikkila, K.; Helgeland, O.; Hernesniemi, J.; Hewitt, A.W.; Hocking, L.J.; Hollensted, M.; Holmen, O.L.; Hovingh, G.K.; Howson, J.M.M.; Hoyng, C.B.; Huang, P.L.; Hveem, K.; Ikram, M.A.; Ingelsson, E.; Jackson, A.U.; Jansson, J.-H.; Jarvik, G.P.; Jensen, G.B.; Jhun, M.A.; Jia, Y.; Jiang, X.; Johansson, S.; Jorgensen, M.E.; Jorgensen, T.; Jousilahti, P.; Jukema, J.W.; Kahali, B.; Kahn, R.S.; Kahonen, M.; Kamstrup, P.R.; Kanoni, S.; Kaprio, J.; Karaleftheri, M.; Kardia, S.L.R.; Karpe, F.; Kee, F.; Keeman, R.; Kiemeney, L.A.; Kitajima, H.; Kluivers, K.B.; Kocher, T.; Komulainen, P.; Kontto, J.; Kooner, J.S.; Kooperberg, C.; Kovacs, P.; Kriebel, J.; Kuivaniemi, H.; Kury, S.; Kuusisto, J.; La Bianca, M.; Laakso, M.; Lakka, T.A.; Lange, E.M.; Lange, L.A.; Langefeld, C.D.; Langenberg, C.; Larson, E.B.; Lee, I.-T.; Lehtimaki, T.; Lewis, C.E.; Li, H.; Li, J.; Li-Gao, R.; Lin, H.; Lin, L.-A.; Lin, X.; Lind, L.; Lindstrom, J.; Linneberg, A.; Liu, Y.; Liu, Y.; Lophatananon, A.; Luan, J.'an; Lubitz, S.A.; Lyytikainen, L.-P.; Mackey, D.A.; Madden, P.A.F.; Manning, A.K.; Mannisto, S.; Marenne, G.; Marten, J.; Martin, N.G.; Mazul, A.L.; Meidtner, K.; Metspalu, A.; Mitchell, P.; Mohlke, K.L.; Mook-Kanamori, D.O.; Morgan, A.; Morris, A.D.; Morris, A.P.; Muller-Nurasyid, M.; Munroe, P.B.; Nalls, M.A.; Nauck, M.; Nelson, C.P.; Neville, M.; Nielsen, S.F.; Nikus, K.; Njolstad, P.R.; Nordestgaard, B.G.; Ntalla, I.; O'Connel, J.R.; Oksa, H.; Loohuis, L.M.O.; Ophoff, R.A.; Owen, K.R.; Packard, C.J.; Padmanabhan, S.; Palmer, C.N.A.; Pasterkamp, G.; Patel, A.P.; Pattie, A.; Pedersen, O.; Peissig, P.L.; Peloso, G.M.; Pennell, C.E.; Perola, M.; Perry, J.A.; Perry, J.R.B.; Person, T.N.; Pirie, A.; Polasek, O.; Posthuma, D.; Raitakari, O.T.; Rasheed, A.; Rauramaa, R.; Reilly, D.F.; Reiner, A.P.; Renstrom, F.; Ridker, P.M.; Rioux, J.D.; Robertson, N.; Robino, A.; Rolandsson, O.; Rudan, I.; Ruth, K.S.; Saleheen, D.; Salomaa, V.; Samani, N.J.; Sandow, K.; Sapkota, Y.; Sattar, N.; Schmidt, M.K.; Schreiner, P.J.; Schulze, M.B.; Scott, R.A.; Segura-Lepe, M.P.; Shah, S.; Sim, X.; Sivapalaratnam, S.; Small, K.S.; Smith, A.V.; Smith, J.A.; Southam, L.; Spector, T.D.; Speliotes, E.K.; Starr, J.M.; Steinthorsdottir, V.; Stringham, H.M.; Stumvoll, M.; Surendran, P.; 't Hart, L.M.; Tansey, K.E.; Tardif, J.-C.; Taylor, K.D.; Teumer, A.; Thompson, D.J.; Thorsteinsdottir, U.; Thuesen, B.H.; Tonjes, A.; Tromp, G.; Trompet, S.; Tsafantakis, E.; Tuomilehto, J.; Tybjaerg-Hansen, A.; Tyrer, J.P.; Uher, R.; Uitterlinden, A.G.; Ulivi, S.; van der Laan, S.W.; Van Der Leij, A.R.; van Duijn, C.M.; van Schoor, N.M.; van Setten, J.; Varbo, A.; Varga, T.V.; Varma, R.; Edwards, D.R.V.; Vermeulen, S.H.; Vestergaard, H.; Vitart, V.; Vogt, T.F.; Vozzi, D.; Walker, M.; Wang, F.; Wang, C.A.; Wang, S.; Wang, Y.; Wareham, N.J.; Warren, H.R.; Wessel, J.; Willems, S.M.; Wilson, J.G.; Witte, D.R.; Woods, M.O.; Wu, Y.; Yaghootkar, H.; Yao, J.; Yao, P.; Yerges-Armstrong, L.M.; Young, R.; Zeggini, E.; Zhan, X.; Zhang, W.; Zhao, J.H.; Zhao, W.; Zhao, W.; Zheng, H.; Zhou, W.; Rotter, J.I.; Boehnke, M.; Kathiresan, S.; McCarthy, M.I.; Willer, C.J.; Stefansson, K.; Borecki, I.B.; Liu, D.J.; North, K.E.; Heard-Costa, N.L.; Pers, T.H.; Lindgren, C.M.; Oxvig, C.; Kutalik, Z.; Rivadeneira, F.; Loos, R.J.F.; Frayling, T.M.; Hirschhorn, J.N.; Deloukas, P.; Lettre, G. url  doi
  Title Rare and low-frequency coding variants alter human adult height Type Journal Article
  Year 2017 Publication Nature Abbreviated Journal Nature  
  Volume 542 Issue 7640 Pages 186-190  
  Keywords ADAMTS Proteins/genetics; Adult; Alleles; Body Height/*genetics; Cell Adhesion Molecules/genetics; Female; Gene Frequency/*genetics; Genetic Variation/*genetics; Genome, Human/genetics; Glycoproteins/genetics/metabolism; Glycosaminoglycans/biosynthesis; Hedgehog Proteins/genetics; Humans; Intercellular Signaling Peptides and Proteins/genetics/metabolism; Interferon Regulatory Factors/genetics; Interleukin-11 Receptor alpha Subunit/genetics; Male; Multifactorial Inheritance/genetics; NADPH Oxidase 4; NADPH Oxidases/genetics; Phenotype; Pregnancy-Associated Plasma Protein-A/metabolism; Procollagen N-Endopeptidase/genetics; Proteoglycans/biosynthesis; Proteolysis; Receptors, Androgen/genetics; Somatomedins/metabolism  
  Abstract Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.  
  Address Department of Medicine, Faculty of Medicine, Universite de Montreal, Montreal, Quebec, H3T 1J4, Canada  
  Corporate Author MAGIC Investigators Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0028-0836 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:28146470; PMCID:PMC5302847 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1953  
Permanent link to this record
 

 
Author (up) Shungin, D.; Winkler, T.W.; Croteau-Chonka, D.C.; Ferreira, T.; Locke, A.E.; Magi, R.; Strawbridge, R.J.; Pers, T.H.; Fischer, K.; Justice, A.E.; Workalemahu, T.; Wu, J.M.; Buchkovich, M.L.; Heard-Costa, N.L.; Roman, T.S.; Drong, A.W.; Song, C.; Gustafsson, S.; Day, F.R.; Esko, T.; Fall, T.; Kutalik, Z.; Luan, J.; Randall, J.C.; Scherag, A.; Vedantam, S.; Wood, A.R.; Chen, J.; Fehrmann, R.; Karjalainen, J.; Kahali, B.; Liu, C.T.; Schmidt, E.M.; Absher, D.; Amin, N.; Anderson, D.; Beekman, M.; Bragg-Gresham, J.L.; Buyske, S.; Demirkan, A.; Ehret, G.B.; Feitosa, M.F.; Goel, A.; Jackson, A.U.; Johnson, T.; Kleber, M.E.; Kristiansson, K.; Mangino, M.; Mateo Leach, I.; Medina-Gomez, C.; Palmer, C.D.; Pasko, D.; Pechlivanis, S.; Peters, M.J.; Prokopenko, I.; Stancakova, A.; Ju Sung, Y.; Tanaka, T.; Teumer, A.; Van Vliet-Ostaptchouk, J.V.; Yengo, L.; Zhang, W.; Albrecht, E.; Arnlov, J.; Arscott, G.M.; Bandinelli, S.; Barrett, A.; Bellis, C.; Bennett, A.J.; Berne, C.; Bluher, M.; Bohringer, S.; Bonnet, F.; Bottcher, Y.; Bruinenberg, M.; Carba, D.B.; Caspersen, I.H.; Clarke, R.; Daw, E.W.; Deelen, J.; Deelman, E.; Delgado, G.; Doney, A.S.; Eklund, N.; Erdos, M.R.; Estrada, K.; Eury, E.; Friedrich, N.; Garcia, M.E.; Giedraitis, V.; Gigante, B.; Go, A.S.; Golay, A.; Grallert, H.; Grammer, T.B.; Grassler, J.; Grewal, J.; Groves, C.J.; Haller, T.; Hallmans, G.; Hartman, C.A.; Hassinen, M.; Hayward, C.; Heikkila, K.; Herzig, K.H.; Helmer, Q.; Hillege, H.L.; Holmen, O.; Hunt, S.C.; Isaacs, A.; Ittermann, T.; James, A.L.; Johansson, I.; Juliusdottir, T.; Kalafati, I.P.; Kinnunen, L.; Koenig, W.; Kooner, I.K.; Kratzer, W.; Lamina, C.; Leander, K.; Lee, N.R.; Lichtner, P.; Lind, L.; Lindstrom, J.; Lobbens, S.; Lorentzon, M.; Mach, F.; Magnusson, P.K.; Mahajan, A.; McArdle, W.L.; Menni, C.; Merger, S.; Mihailov, E.; Milani, L.; Mills, R.; Moayyeri, A.; Monda, K.L.; Mooijaart, S.P.; Muhleisen, T.W.; Mulas, A.; Muller, G.; Muller-Nurasyid, M.; Nagaraja, R.; Nalls, M.A.; Narisu, N.; Glorioso, N.; Nolte, I.M.; Olden, M.; Rayner, N.W.; Renstrom, F.; Ried, J.S.; Robertson, N.R.; Rose, L.M.; Sanna, S.; Scharnagl, H.; Scholtens, S.; Sennblad, B.; Seufferlein, T.; Sitlani, C.M.; Vernon Smith, A.; Stirrups, K.; Stringham, H.M.; Sundstrom, J.; Swertz, M.A.; Swift, A.J.; Syvanen, A.C.; Tayo, B.O.; Thorand, B.; Thorleifsson, G.; Tomaschitz, A.; Troffa, C.; van Oort, F.V.; Verweij, N.; Vonk, J.M.; Waite, L.L.; Wennauer, R.; Wilsgaard, T.; Wojczynski, M.K.; Wong, A.; Zhang, Q.; Hua Zhao, J.; Brennan, E.P.; Choi, M.; Eriksson, P.; Folkersen, L.; Franco-Cereceda, A.; Gharavi, A.G.; Hedman, A.K.; Hivert, M.F.; Huang, J.; Kanoni, S.; Karpe, F.; Keildson, S.; Kiryluk, K.; Liang, L.; Lifton, R.P.; Ma, B.; McKnight, A.J.; McPherson, R.; Metspalu, A.; Min, J.L.; Moffatt, M.F.; Montgomery, G.W.; Murabito, J.M.; Nicholson, G.; Nyholt, D.R.; Olsson, C.; Perry, J.R.; Reinmaa, E.; Salem, R.M.; Sandholm, N.; Schadt, E.E.; Scott, R.A.; Stolk, L.; Vallejo, E.E.; Westra, H.J.; Zondervan, K.T.; Consortium, A.D.I.P.O.G.; Consortium, C.A.R.D.I.O.G.R.A.M.C.4D.; Consortium, C.K.D.G.; Consortium, G.; Consortium, G.; Glgc; Icbp; International Endogene, C.; LifeLines Cohort, S.; Investigators, M.; Mu, T.C.; Consortium, P.; ReproGen, C.; Amouyel, P.; Arveiler, D.; Bakker, S.J.; Beilby, J.; Bergman, R.N.; Blangero, J.; Brown, M.J.; Burnier, M.; Campbell, H.; Chakravarti, A.; Chines, P.S.; Claudi-Boehm, S.; Collins, F.S.; Crawford, D.C.; Danesh, J.; de Faire, U.; de Geus, E.J.; Dorr, M.; Erbel, R.; Eriksson, J.G.; Farrall, M.; Ferrannini, E.; Ferrieres, J.; Forouhi, N.G.; Forrester, T.; Franco, O.H.; Gansevoort, R.T.; Gieger, C.; Gudnason, V.; Haiman, C.A.; Harris, T.B.; Hattersley, A.T.; Heliovaara, M.; Hicks, A.A.; Hingorani, A.D.; Hoffmann, W.; Hofman, A.; Homuth, G.; Humphries, S.E.; Hypponen, E.; Illig, T.; Jarvelin, M.R.; Johansen, B.; Jousilahti, P.; Jula, A.M.; Kaprio, J.; Kee, F.; Keinanen-Kiukaanniemi, S.M.; Kooner, J.S.; Kooperberg, C.; Kovacs, P.; Kraja, A.T.; Kumari, M.; Kuulasmaa, K.; Kuusisto, J.; Lakka, T.A.; Langenberg, C.; Le Marchand, L.; Lehtimaki, T.; Lyssenko, V.; Mannisto, S.; Marette, A.; Matise, T.C.; McKenzie, C.A.; McKnight, B.; Musk, A.W.; Mohlenkamp, S.; Morris, A.D.; Nelis, M.; Ohlsson, C.; Oldehinkel, A.J.; Ong, K.K.; Palmer, L.J.; Penninx, B.W.; Peters, A.; Pramstaller, P.P.; Raitakari, O.T.; Rankinen, T.; Rao, D.C.; Rice, T.K.; Ridker, P.M.; Ritchie, M.D.; Rudan, I.; Salomaa, V.; Samani, N.J.; Saramies, J.; Sarzynski, M.A.; Schwarz, P.E.; Shuldiner, A.R.; Staessen, J.A.; Steinthorsdottir, V.; Stolk, R.P.; Strauch, K.; Tonjes, A.; Tremblay, A.; Tremoli, E.; Vohl, M.C.; Volker, U.; Vollenweider, P.; Wilson, J.F.; Witteman, J.C.; Adair, L.S.; Bochud, M.; Boehm, B.O.; Bornstein, S.R.; Bouchard, C.; Cauchi, S.; Caulfield, M.J.; Chambers, J.C.; Chasman, D.I.; Cooper, R.S.; Dedoussis, G.; Ferrucci, L.; Froguel, P.; Grabe, H.J.; Hamsten, A.; Hui, J.; Hveem, K.; Jockel, K.H.; Kivimaki, M.; Kuh, D.; Laakso, M.; Liu, Y.; Marz, W.; Munroe, P.B.; Njolstad, I.; Oostra, B.A.; Palmer, C.N.; Pedersen, N.L.; Perola, M.; Perusse, L.; Peters, U.; Power, C.; Quertermous, T.; Rauramaa, R.; Rivadeneira, F.; Saaristo, T.E.; Saleheen, D.; Sinisalo, J.; Slagboom, P.E.; Snieder, H.; Spector, T.D.; Thorsteinsdottir, U.; Stumvoll, M.; Tuomilehto, J.; Uitterlinden, A.G.; Uusitupa, M.; van der Harst, P.; Veronesi, G.; Walker, M.; Wareham, N.J.; Watkins, H.; Wichmann, H.E.; Abecasis, G.R.; Assimes, T.L.; Berndt, S.I.; Boehnke, M.; Borecki, I.B.; Deloukas, P.; Franke, L.; Frayling, T.M.; Groop, L.C.; Hunter, D.J.; Kaplan, R.C.; O'Connell, J.R.; Qi, L.; Schlessinger, D.; Strachan, D.P.; Stefansson, K.; van Duijn, C.M.; Willer, C.J.; Visscher, P.M.; Yang, J.; Hirschhorn, J.N.; Zillikens, M.C.; McCarthy, M.I.; Speliotes, E.K.; North, K.E.; Fox, C.S.; Barroso, I.; Franks, P.W.; Ingelsson, E.; Heid, I.M.; Loos, R.J.; Cupples, L.A.; Morris, A.P.; Lindgren, C.M.; Mohlke, K.L.   
  Title New genetic loci link adipose and insulin biology to body fat distribution Type Journal Article
  Year 2015 Publication Nature Abbreviated Journal Nature  
  Volume 518 Issue 7538 Pages 187-196  
  Keywords HUNT3; Adipocytes/metabolism; Adipogenesis/genetics; Adipose Tissue/*metabolism; Age Factors; *Body Fat Distribution; Body Mass Index; Continental Population Groups/genetics; Epigenesis, Genetic; Europe/ethnology; Female; Genome, Human/genetics; *Genome-Wide Association Study; Humans; Insulin/*metabolism; Insulin Resistance/genetics; Male; Models, Biological; Neovascularization, Physiologic/genetics; Obesity/genetics; Polymorphism, Single Nucleotide/genetics; Quantitative Trait Loci/*genetics; Sex Characteristics; Transcription, Genetic/genetics; Waist-Hip Ratio  
  Abstract Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication 1] Department of Public Health and Clinical Medicine, Unit of Medicine, Umea University, 901 87 Umea Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number HUNT @ maria.stuifbergen @ Shungin2015 Serial 1858  
Permanent link to this record
 

 
Author (up) Wood, A.R.; Esko, T.; Yang, J.; Vedantam, S.; Pers, T.H.; Gustafsson, S.; Chu, A.Y.; Estrada, K.; Luan, J.'an; Kutalik, Z.; Amin, N.; Buchkovich, M.L.; Croteau-Chonka, D.C.; Day, F.R.; Duan, Y.; Fall, T.; Fehrmann, R.; Ferreira, T.; Jackson, A.U.; Karjalainen, J.; Lo, K.S.; Locke, A.E.; Magi, R.; Mihailov, E.; Porcu, E.; Randall, J.C.; Scherag, A.; Vinkhuyzen, A.A.E.; Westra, H.-J.; Winkler, T.W.; Workalemahu, T.; Zhao, J.H.; Absher, D.; Albrecht, E.; Anderson, D.; Baron, J.; Beekman, M.; Demirkan, A.; Ehret, G.B.; Feenstra, B.; Feitosa, M.F.; Fischer, K.; Fraser, R.M.; Goel, A.; Gong, J.; Justice, A.E.; Kanoni, S.; Kleber, M.E.; Kristiansson, K.; Lim, U.; Lotay, V.; Lui, J.C.; Mangino, M.; Mateo Leach, I.; Medina-Gomez, C.; Nalls, M.A.; Nyholt, D.R.; Palmer, C.D.; Pasko, D.; Pechlivanis, S.; Prokopenko, I.; Ried, J.S.; Ripke, S.; Shungin, D.; Stancakova, A.; Strawbridge, R.J.; Sung, Y.J.; Tanaka, T.; Teumer, A.; Trompet, S.; van der Laan, S.W.; van Setten, J.; Van Vliet-Ostaptchouk, J.V.; Wang, Z.; Yengo, L.; Zhang, W.; Afzal, U.; Arnlov, J.; Arscott, G.M.; Bandinelli, S.; Barrett, A.; Bellis, C.; Bennett, A.J.; Berne, C.; Bluher, M.; Bolton, J.L.; Bottcher, Y.; Boyd, H.A.; Bruinenberg, M.; Buckley, B.M.; Buyske, S.; Caspersen, I.H.; Chines, P.S.; Clarke, R.; Claudi-Boehm, S.; Cooper, M.; Daw, E.W.; De Jong, P.A.; Deelen, J.; Delgado, G.; Denny, J.C.; Dhonukshe-Rutten, R.; Dimitriou, M.; Doney, A.S.F.; Dorr, M.; Eklund, N.; Eury, E.; Folkersen, L.; Garcia, M.E.; Geller, F.; Giedraitis, V.; Go, A.S.; Grallert, H.; Grammer, T.B.; Grassler, J.; Gronberg, H.; de Groot, L.C.P.G.M.; Groves, C.J.; Haessler, J.; Hall, P.; Haller, T.; Hallmans, G.; Hannemann, A.; Hartman, C.A.; Hassinen, M.; Hayward, C.; Heard-Costa, N.L.; Helmer, Q.; Hemani, G.; Henders, A.K.; Hillege, H.L.; Hlatky, M.A.; Hoffmann, W.; Hoffmann, P.; Holmen, O.; Houwing-Duistermaat, J.J.; Illig, T.; Isaacs, A.; James, A.L.; Jeff, J.; Johansen, B.; Johansson, A.; Jolley, J.; Juliusdottir, T.; Junttila, J.; Kho, A.N.; Kinnunen, L.; Klopp, N.; Kocher, T.; Kratzer, W.; Lichtner, P.; Lind, L.; Lindstrom, J.; Lobbens, S.; Lorentzon, M.; Lu, Y.; Lyssenko, V.; Magnusson, P.K.E.; Mahajan, A.; Maillard, M.; McArdle, W.L.; McKenzie, C.A.; McLachlan, S.; McLaren, P.J.; Menni, C.; Merger, S.; Milani, L.; Moayyeri, A.; Monda, K.L.; Morken, M.A.; Muller, G.; Muller-Nurasyid, M.; Musk, A.W.; Narisu, N.; Nauck, M.; Nolte, I.M.; Nothen, M.M.; Oozageer, L.; Pilz, S.; Rayner, N.W.; Renstrom, F.; Robertson, N.R.; Rose, L.M.; Roussel, R.; Sanna, S.; Scharnagl, H.; Scholtens, S.; Schumacher, F.R.; Schunkert, H.; Scott, R.A.; Sehmi, J.; Seufferlein, T.; Shi, J.; Silventoinen, K.; Smit, J.H.; Smith, A.V.; Smolonska, J.; Stanton, A.V.; Stirrups, K.; Stott, D.J.; Stringham, H.M.; Sundstrom, J.; Swertz, M.A.; Syvanen, A.-C.; Tayo, B.O.; Thorleifsson, G.; Tyrer, J.P.; van Dijk, S.; van Schoor, N.M.; van der Velde, N.; van Heemst, D.; van Oort, F.V.A.; Vermeulen, S.H.; Verweij, N.; Vonk, J.M.; Waite, L.L.; Waldenberger, M.; Wennauer, R.; Wilkens, L.R.; Willenborg, C.; Wilsgaard, T.; Wojczynski, M.K.; Wong, A.; Wright, A.F.; Zhang, Q.; Arveiler, D.; Bakker, S.J.L.; Beilby, J.; Bergman, R.N.; Bergmann, S.; Biffar, R.; Blangero, J.; Boomsma, D.I.; Bornstein, S.R.; Bovet, P.; Brambilla, P.; Brown, M.J.; Campbell, H.; Caulfield, M.J.; Chakravarti, A.; Collins, R.; Collins, F.S.; Crawford, D.C.; Cupples, L.A.; Danesh, J.; de Faire, U.; den Ruijter, H.M.; Erbel, R.; Erdmann, J.; Eriksson, J.G.; Farrall, M.; Ferrannini, E.; Ferrieres, J.; Ford, I.; Forouhi, N.G.; Forrester, T.; Gansevoort, R.T.; Gejman, P.V.; Gieger, C.; Golay, A.; Gottesman, O.; Gudnason, V.; Gyllensten, U.; Haas, D.W.; Hall, A.S.; Harris, T.B.; Hattersley, A.T.; Heath, A.C.; Hengstenberg, C.; Hicks, A.A.; Hindorff, L.A.; Hingorani, A.D.; Hofman, A.; Hovingh, G.K.; Humphries, S.E.; Hunt, S.C.; Hypponen, E.; Jacobs, K.B.; Jarvelin, M.-R.; Jousilahti, P.; Jula, A.M.; Kaprio, J.; Kastelein, J.J.P.; Kayser, M.; Kee, F.; Keinanen-Kiukaanniemi, S.M.; Kiemeney, L.A.; Kooner, J.S.; Kooperberg, C.; Koskinen, S.; Kovacs, P.; Kraja, A.T.; Kumari, M.; Kuusisto, J.; Lakka, T.A.; Langenberg, C.; Le Marchand, L.; Lehtimaki, T.; Lupoli, S.; Madden, P.A.F.; Mannisto, S.; Manunta, P.; Marette, A.; Matise, T.C.; McKnight, B.; Meitinger, T.; Moll, F.L.; Montgomery, G.W.; Morris, A.D.; Morris, A.P.; Murray, J.C.; Nelis, M.; Ohlsson, C.; Oldehinkel, A.J.; Ong, K.K.; Ouwehand, W.H.; Pasterkamp, G.; Peters, A.; Pramstaller, P.P.; Price, J.F.; Qi, L.; Raitakari, O.T.; Rankinen, T.; Rao, D.C.; Rice, T.K.; Ritchie, M.; Rudan, I.; Salomaa, V.; Samani, N.J.; Saramies, J.; Sarzynski, M.A.; Schwarz, P.E.H.; Sebert, S.; Sever, P.; Shuldiner, A.R.; Sinisalo, J.; Steinthorsdottir, V.; Stolk, R.P.; Tardif, J.-C.; Tonjes, A.; Tremblay, A.; Tremoli, E.; Virtamo, J.; Vohl, M.-C.; Amouyel, P.; Asselbergs, F.W.; Assimes, T.L.; Bochud, M.; Boehm, B.O.; Boerwinkle, E.; Bottinger, E.P.; Bouchard, C.; Cauchi, S.; Chambers, J.C.; Chanock, S.J.; Cooper, R.S.; de Bakker, P.I.W.; Dedoussis, G.; Ferrucci, L.; Franks, P.W.; Froguel, P.; Groop, L.C.; Haiman, C.A.; Hamsten, A.; Hayes, M.G.; Hui, J.; Hunter, D.J.; Hveem, K.; Jukema, J.W.; Kaplan, R.C.; Kivimaki, M.; Kuh, D.; Laakso, M.; Liu, Y.; Martin, N.G.; Marz, W.; Melbye, M.; Moebus, S.; Munroe, P.B.; Njolstad, I.; Oostra, B.A.; Palmer, C.N.A.; Pedersen, N.L.; Perola, M.; Perusse, L.; Peters, U.; Powell, J.E.; Power, C.; Quertermous, T.; Rauramaa, R.; Reinmaa, E.; Ridker, P.M.; Rivadeneira, F.; Rotter, J.I.; Saaristo, T.E.; Saleheen, D.; Schlessinger, D.; Slagboom, P.E.; Snieder, H.; Spector, T.D.; Strauch, K.; Stumvoll, M.; Tuomilehto, J.; Uusitupa, M.; van der Harst, P.; Volzke, H.; Walker, M.; Wareham, N.J.; Watkins, H.; Wichmann, H.-E.; Wilson, J.F.; Zanen, P.; Deloukas, P.; Heid, I.M.; Lindgren, C.M.; Mohlke, K.L.; Speliotes, E.K.; Thorsteinsdottir, U.; Barroso, I.; Fox, C.S.; North, K.E.; Strachan, D.P.; Beckmann, J.S.; Berndt, S.I.; Boehnke, M.; Borecki, I.B.; McCarthy, M.I.; Metspalu, A.; Stefansson, K.; Uitterlinden, A.G.; van Duijn, C.M.; Franke, L.; Willer, C.J.; Price, A.L.; Lettre, G.; Loos, R.J.F.; Weedon, M.N.; Ingelsson, E.; O'Connell, J.R.; Abecasis, G.R.; Chasman, D.I.; Goddard, M.E.; Visscher, P.M.; Hirschhorn, J.N.; Frayling, T.M. url  doi
  Title Defining the role of common variation in the genomic and biological architecture of adult human height Type Meta-Analysis
  Year 2014 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 46 Issue 11 Pages 1173-1186  
  Keywords HUNT3; Adult; Analysis of Variance; Body Height/*genetics; European Continental Ancestry Group/*genetics; Genetic Variation/*genetics; Genetics, Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide/*genetics  
  Abstract Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.  
  Address Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK  
  Corporate Author LifeLines Cohort Study Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:25282103; PMC4250049 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1664  
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