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Author 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 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 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 Demirkan, A.; van Duijn, C.M.; Ugocsai, P.; Isaacs, A.; Pramstaller, P.P.; Liebisch, G.; Wilson, J.F.; Johansson, A.; Rudan, I.; Aulchenko, Y.S.; Kirichenko, A.V.; Janssens, A.C.J.W.; Jansen, R.C.; Gnewuch, C.; Domingues, F.S.; Pattaro, C.; Wild, S.H.; Jonasson, I.; Polasek, O.; Zorkoltseva, I.V.; Hofman, A.; Karssen, L.C.; Struchalin, M.; Floyd, J.; Igl, W.; Biloglav, Z.; Broer, L.; Pfeufer, A.; Pichler, I.; Campbell, S.; Zaboli, G.; Kolcic, I.; Rivadeneira, F.; Huffman, J.; Hastie, N.D.; Uitterlinden, A.; Franke, L.; Franklin, C.S.; Vitart, V.; Nelson, C.P.; Preuss, M.; Bis, J.C.; O'Donnell, C.J.; Franceschini, N.; Witteman, J.C.M.; Axenovich, T.; Oostra, B.A.; Meitinger, T.; Hicks, A.A.; Hayward, C.; Wright, A.F.; Gyllensten, U.; Campbell, H.; Schmitz, G. url  doi
  Title Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations Type Journal Article
  Year 2012 Publication PLoS Genetics Abbreviated Journal PLoS Genet  
  Volume 8 Issue 2 Pages e1002490  
  Keywords Carotid Intima-Media Thickness; Databases, Genetic; Diabetes Mellitus, Type 2/blood/genetics; European Continental Ancestry Group/*genetics; Genetic Loci; *Genome, Human; *Genome-Wide Association Study; Humans; *Phospholipids/blood/genetics; Polymorphism, Single Nucleotide; *Sphingolipids/blood/genetics  
  Abstract Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57 phosphatidylcholines (PC), 20 lysophosphatidylcholines (LPC), 27 phosphatidylethanolamines (PE), and 16 PE-based plasmalogens (PLPE), as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88x10(-204)) and 10 loci for sphingolipids (smallest P-value = 3.10x10(-57)). After a correction for multiple comparisons (P-value<2.2x10(-9)), we observed four novel loci significantly associated with phospholipids (PAQR9, AGPAT1, PKD2L1, PDXDC1) and two with sphingolipids (PLD2 and APOE) explaining up to 3.1% of the variance. Further analysis of the top findings with respect to within class molar proportions uncovered three additional loci for phospholipids (PNLIPRP2, PCDH20, and ABDH3) suggesting their involvement in either fatty acid elongation/saturation processes or fatty acid specific turnover mechanisms. Among those, 14 loci (KCNH7, AGPAT1, PNLIPRP2, SYT9, FADS1-2-3, DLG2, APOA1, ELOVL2, CDK17, LIPC, PDXDC1, PLD2, LASS4, and APOE) mapped into the glycerophospholipid and 12 loci (ILKAP, ITGA9, AGPAT1, FADS1-2-3, APOA1, PCDH20, LIPC, PDXDC1, SGPP1, APOE, LASS4, and PLD2) to the sphingolipid pathways. In large meta-analyses, associations between FADS1-2-3 and carotid intima media thickness, AGPAT1 and type 2 diabetes, and APOA1 and coronary artery disease were observed. In conclusion, our study identified nine novel phospho- and sphingolipid loci, substantially increasing our knowledge of the genetic basis for these traits.  
  Address Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands  
  Corporate Author EUROSPAN 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:22359512; PMC3280968 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1520  
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Author Johnson, M.P.; Brennecke, S.P.; East, C.E.; Goring, H.H.H.; Kent, J.W.J.; Dyer, T.D.; Said, J.M.; Roten, L.T.; Iversen, A.-C.; Abraham, L.J.; Heinonen, S.; Kajantie, E.; Kere, J.; Kivinen, K.; Pouta, A.; Laivuori, H.; Austgulen, R.; Blangero, J.; Moses, E.K. url  doi
  Title Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene Type Journal Article
  Year 2012 Publication PloS one Abbreviated Journal PLoS One  
  Volume 7 Issue 3 Pages e33666  
  Keywords Australia; Chromosomes, Human, Pair 2/*genetics; Cohort Studies; Computational Biology; Female; Finland; Gene Expression Regulation; Genetic Loci/*genetics; *Genetic Predisposition to Disease; Genome, Human/genetics; *Genome-Wide Association Study; Humans; Inhibin-beta Subunits/*genetics/metabolism; Norway; Polymorphism, Single Nucleotide/genetics; Pre-Eclampsia/*genetics; Pregnancy; Reproducibility of Results; Risk Factors; Sequence Analysis, DNA  
  Abstract Elucidating the genetic architecture of preeclampsia is a major goal in obstetric medicine. We have performed a genome-wide association study (GWAS) for preeclampsia in unrelated Australian individuals of Caucasian ancestry using the Illumina OmniExpress-12 BeadChip to successfully genotype 648,175 SNPs in 538 preeclampsia cases and 540 normal pregnancy controls. Two SNP associations (rs7579169, p = 3.58x10(-7), OR = 1.57; rs12711941, p = 4.26x10(-7), OR = 1.56) satisfied our genome-wide significance threshold (modified Bonferroni p<5.11x10(-7)). These SNPs reside in an intergenic region less than 15 kb downstream from the 3' terminus of the Inhibin, beta B (INHBB) gene on 2q14.2. They are in linkage disequilibrium (LD) with each other (r(2) = 0.92), but not (r(2)<0.80) with any other genotyped SNP +/-250 kb. DNA re-sequencing in and around the INHBB structural gene identified an additional 25 variants. Of the 21 variants that we successfully genotyped back in the case-control cohort the most significant association observed was for a third intergenic SNP (rs7576192, p = 1.48x10(-7), OR = 1.59) in strong LD with the two significant GWAS SNPs (r(2)>0.92). We attempted to provide evidence of a putative regulatory role for these SNPs using bioinformatic analyses and found that they all reside within regions of low sequence conservation and/or low complexity, suggesting functional importance is low. We also explored the mRNA expression in decidua of genes +/-500 kb of INHBB and found a nominally significant correlation between a transcript encoded by the EPB41L5 gene, approximately 250 kb centromeric to INHBB, and preeclampsia (p = 0.03). We were unable to replicate the associations shown by the significant GWAS SNPs in case-control cohorts from Norway and Finland, leading us to conclude that it is more likely that these SNPs are in LD with as yet unidentified causal variant(s).  
  Address Department of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, United States of America  
  Corporate Author FINNPEC Study Group 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 1932-6203 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22432041; PMC3303857 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1534  
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Author Lange, L.A.; Hu, Y.; Zhang, H.; Xue, C.; Schmidt, E.M.; Tang, Z.-Z.; Bizon, C.; Lange, E.M.; Smith, J.D.; Turner, E.H.; Jun, G.; Kang, H.M.; Peloso, G.; Auer, P.; Li, K.-P.; Flannick, J.; Zhang, J.; Fuchsberger, C.; Gaulton, K.; Lindgren, C.; Locke, A.; Manning, A.; Sim, X.; Rivas, M.A.; Holmen, O.L.; Gottesman, O.; Lu, Y.; Ruderfer, D.; Stahl, E.A.; Duan, Q.; Li, Y.; Durda, P.; Jiao, S.; Isaacs, A.; Hofman, A.; Bis, J.C.; Correa, A.; Griswold, M.E.; Jakobsdottir, J.; Smith, A.V.; Schreiner, P.J.; Feitosa, M.F.; Zhang, Q.; Huffman, J.E.; Crosby, J.; Wassel, C.L.; Do, R.; Franceschini, N.; Martin, L.W.; Robinson, J.G.; Assimes, T.L.; Crosslin, D.R.; Rosenthal, E.A.; Tsai, M.; Rieder, M.J.; Farlow, D.N.; Folsom, A.R.; Lumley, T.; Fox, E.R.; Carlson, C.S.; Peters, U.; Jackson, R.D.; van Duijn, C.M.; Uitterlinden, A.G.; Levy, D.; Rotter, J.I.; Taylor, H.A.; Gudnason, V.J.; Siscovick, D.S.; Fornage, M.; Borecki, I.B.; Hayward, C.; Rudan, I.; Chen, Y.E.; Bottinger, E.P.; Loos, R.J.F.; Saetrom, P.; Hveem, K.; Boehnke, M.; Groop, L.; McCarthy, M.; Meitinger, T.; Ballantyne, C.M.; Gabriel, S.B.; O'Donnell, C.J.; Post, W.S.; North, K.E.; Reiner, A.P.; Boerwinkle, E.; Psaty, B.M.; Altshuler, D.; Kathiresan, S.; Lin, D.-Y.; Jarvik, G.P.; Cupples, L.A.; Kooperberg, C.; Wilson, J.G.; Nickerson, D.A.; Abecasis, G.R.; Rich, S.S.; Tracy, R.P.; Willer, C.J. url  doi
  Title Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol Type Journal Article
  Year 2014 Publication American Journal of Human Genetics Abbreviated Journal Am J Hum Genet  
  Volume 94 Issue 2 Pages 233-245  
  Keywords Adult; Aged; Apolipoproteins E/blood/genetics; Cholesterol, LDL/*genetics; Cohort Studies; Dyslipidemias/blood/genetics; *Exome; Female; Follow-Up Studies; *Gene Frequency; Genetic Code; *Genome-Wide Association Study; Genotype; Humans; Lipase/genetics; Male; Middle Aged; Phenotype; *Polymorphism, Single Nucleotide; Proprotein Convertases/genetics; Receptors, LDL/genetics; Sequence Analysis, DNA; Serine Endopeptidases/genetics; HUNT3  
  Abstract Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(nd) percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments.  
  Address Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: cristen@umich.edu  
  Corporate Author NHLBI Grand Opportunity Exome Sequencing Project 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 0002-9297 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:24507775; PMC3928660 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1625  
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Author Nielsen, J.B.; Fritsche, L.G.; Zhou, W.; Teslovich, T.M.; Holmen, O.L.; Gustafsson, S.; Gabrielsen, M.E.; Schmidt, E.M.; Beaumont, R.; Wolford, B.N.; Lin, M.; Brummett, C.M.; Preuss, M.H.; Refsgaard, L.; Bottinger, E.P.; Graham, S.E.; Surakka, I.; Chu, Y.; Skogholt, A.H.; Dalen, H.; Boyle, A.P.; Oral, H.; Herron, T.J.; Kitzman, J.; Jalife, J.; Svendsen, J.H.; Olesen, M.S.; Njolstad, I.; Lochen, M.-L.; Baras, A.; Gottesman, O.; Marcketta, A.; O'Dushlaine, C.; Ritchie, M.D.; Wilsgaard, T.; Loos, R.J.F.; Frayling, T.M.; Boehnke, M.; Ingelsson, E.; Carey, D.J.; Dewey, F.E.; Kang, H.M.; Abecasis, G.R.; Hveem, K.; Willer, C.J. url  doi
  Title Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development Type Journal Article
  Year 2018 Publication American Journal of Human Genetics Abbreviated Journal Am J Hum Genet  
  Volume 102 Issue 1 Pages 103-115  
  Keywords Atrial Fibrillation/*genetics; *Genetic Loci; *Genetic Predisposition to Disease; *Genome-Wide Association Study; Heart/*embryology; Humans; Inheritance Patterns/genetics; Multifactorial Inheritance/genetics; Organ Specificity/genetics; Physical Chromosome Mapping; Quantitative Trait Loci/genetics; Regulatory Sequences, Nucleic Acid/*genetics; Reproducibility of Results; Risk Factors; *Cdkn2c; *Dmrta2; *Gwas; *Ttn; *atrial fibrillation; *cardiomyopathy; *fetal; *genetic risk score; *heart; *pathway  
  Abstract Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals. Through genotyping and dense imputation mapping from whole-genome sequencing, we tested almost nine million genetic variants across the genome and identified seven risk loci, including two novel loci. One novel locus (lead single-nucleotide variant [SNV] rs12614435; p = 6.76 x 10(-18)) comprised intronic and several highly correlated missense variants situated in the I-, A-, and M-bands of titin, which is the largest protein in humans and responsible for the passive elasticity of heart and skeletal muscle. The other novel locus (lead SNV rs56202902; p = 1.54 x 10(-11)) covered a large, gene-dense chromosome 1 region that has previously been linked to cardiac conduction. Pathway and functional enrichment analyses suggested that many AF-associated genetic variants act through a mechanism of impaired muscle cell differentiation and tissue formation during fetal heart development.  
  Address Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health, Norwegian University of Science and Technology, Trondheim 7491, Norway; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: cristen@umich.edu  
  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 0002-9297 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:29290336; PMCID:PMC5777936 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 2143  
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Author Palmer, N.D.; McDonough, C.W.; Hicks, P.J.; Roh, B.H.; Wing, M.R.; An, S.S.; Hester, J.M.; Cooke, J.N.; Bostrom, M.A.; Rudock, M.E.; Talbert, M.E.; Lewis, J.P.; Ferrara, A.; Lu, L.; Ziegler, J.T.; Sale, M.M.; Divers, J.; Shriner, D.; Adeyemo, A.; Rotimi, C.N.; Ng, M.C.Y.; Langefeld, C.D.; Freedman, B.I.; Bowden, D.W.; Voight, B.F.; Scott, L.J.; Steinthorsdottir, V.; Morris, A.P.; 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.; Langenberg, C.; Hofmann, O.M.; Dupuis, J.; Qi, L.; 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.; Couper, D.J.; 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.; Klopp, N.; 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.; Perry, J.R.B.; 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.; Mohlke, K.L.; Morris, A.D.; Palmer, C.N.A.; Pramstaller, P.P.; Rudan, I.; Sijbrands, E.; Stein, L.D.; Tuomilehto, J.; Uitterlinden, A.; Walker, M.; Wareham, N.J.; Watanabe, R.M.; Abecasis, G.R.; Boehm, B.O.; Campbell, H.; Daly, M.J.; Hattersley, A.T.; Hu, F.B.; Meigs, J.B.; Pankow, J.S.; Pedersen, O.; Wichmann, H.-E.; Barroso, I.; Florez, J.C.; Frayling, T.M.; 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.; Johnson, T.; Elliott, P.; Rybin, D.; Henneman, P.; Dehghan, A.; Hottenga, J.J.; Song, K.; Goel, A.; Egan, J.M.; Lajunen, T.; Doney, A.; Kanoni, S.; 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.; Frants, R.; 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.; Hicks, A.A.; Hillman, D.R.; Hingorani, A.D.; Hui, J.; Hung, J.; Jula, A.; 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.; Manning, A.K.; 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.; Oostra, B.A.; Orru, M.; Pakyz, R.; Paolisso, G.; Pattaro, C.; Pearson, D.; Peden, J.F.; Pedersen, N.L.; Perola, M.; Pfeiffer, A.F.H.; Pichler, I.; Polasek, O.; Posthuma, D.; Potter, S.C.; Pouta, A.; Province, M.A.; Psaty, B.M.; 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.; Sijbrands, E.J.G.; Silveira, A.; Simpson, L.; Singleton, A.; Smith, N.L.; Sovio, U.; Swift, A.; Syddall, H.; Syvanen, A.-C.; Tanaka, T.; 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.; Loos, R.J.F.; Meneton, P.; Magnusson, P.K.E.; Nathan, D.M.; Williams, G.H.; Silander, K.; Salomaa, V.; Smith, G.D.; Bornstein, S.R.; Schwarz, P.; Spranger, J.; Karpe, F.; Shuldiner, A.R.; Cooper, C.; Dedoussis, G.V.; Serrano-Rios, M.; Lind, L.; Palmer, L.J.; 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.; Siscovick, D.S.; Penninx, B.W.J.H.; Boomsma, D.I.; Deloukas, P.; Spector, T.D.; Ferrucci, L.; Cao, A.; Scuteri, A.; Schlessinger, D.; Uda, M.; Ruokonen, A.; Jarvelin, M.-R.; Waterworth, D.M.; Vollenweider, P.; Peltonen, L.; Mooser, V.; Sladek, R. url  doi
  Title A genome-wide association search for type 2 diabetes genes in African Americans Type Journal Article
  Year 2012 Publication PloS one Abbreviated Journal PLoS One  
  Volume 7 Issue 1 Pages e29202  
  Keywords Adult; African Americans/*genetics; Aged; Case-Control Studies; Cohort Studies; Diabetes Mellitus, Type 2/*ethnology/*genetics; Female; Genetic Predisposition to Disease; *Genome-Wide Association Study; Genotype; Humans; Male; Meta-Analysis as Topic; Middle Aged; Polymorphism, Single Nucleotide; Validation Studies as Topic  
  Abstract African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5x10(-8)). SNP rs7560163 (P = 7.0x10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5x10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.  
  Address Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America. nallred@wfubmc.edu  
  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 1932-6203 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22238593; PMC3251563 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1565  
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Author Purdue, M.P.; Johansson, M.; Zelenika, D.; Toro, J.R.; Scelo, G.; Moore, L.E.; Prokhortchouk, E.; Wu, X.; Kiemeney, L.A.; Gaborieau, V.; Jacobs, K.B.; Chow, W.-H.; Zaridze, D.; Matveev, V.; Lubinski, J.; Trubicka, J.; Szeszenia-Dabrowska, N.; Lissowska, J.; Rudnai, P.; Fabianova, E.; Bucur, A.; Bencko, V.; Foretova, L.; Janout, V.; Boffetta, P.; Colt, J.S.; Davis, F.G.; Schwartz, K.L.; Banks, R.E.; Selby, P.J.; Harnden, P.; Berg, C.D.; Hsing, A.W.; Grubb, R.L. 3rd; Boeing, H.; Vineis, P.; Clavel-Chapelon, F.; Palli, D.; Tumino, R.; Krogh, V.; Panico, S.; Duell, E.J.; Quiros, J.R.; Sanchez, M.-J.; Navarro, C.; Ardanaz, E.; Dorronsoro, M.; Khaw, K.-T.; Allen, N.E.; Bueno-de-Mesquita, H.B.; Peeters, P.H.M.; Trichopoulos, D.; Linseisen, J.; Ljungberg, B.; Overvad, K.; Tjonneland, A.; Romieu, I.; Riboli, E.; Mukeria, A.; Shangina, O.; Stevens, V.L.; Thun, M.J.; Diver, W.R.; Gapstur, S.M.; Pharoah, P.D.; Easton, D.F.; Albanes, D.; Weinstein, S.J.; Virtamo, J.; Vatten, L.; Hveem, K.; Njolstad, I.; Tell, G.S.; Stoltenberg, C.; Kumar, R.; Koppova, K.; Cussenot, O.; Benhamou, S.; Oosterwijk, E.; Vermeulen, S.H.; Aben, K.K.H.; van der Marel, S.L.; Ye, Y.; Wood, C.G.; Pu, X.; Mazur, A.M.; Boulygina, E.S.; Chekanov, N.N.; Foglio, M.; Lechner, D.; Gut, I.; Heath, S.; Blanche, H.; Hutchinson, A.; Thomas, G.; Wang, Z.; Yeager, M.; Fraumeni, J.F.J.; Skryabin, K.G.; McKay, J.D.; Rothman, N.; Chanock, S.J.; Lathrop, M.; Brennan, P. url  doi
  Title Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 Type Journal Article
  Year 2011 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 43 Issue 1 Pages 60-65  
  Keywords HUNT2; Carcinoma, Renal Cell/*genetics; Case-Control Studies; Chromosomes, Human, Pair 11/*genetics; Chromosomes, Human, Pair 2/*genetics; *Genetic Predisposition to Disease/genetics; Genome, Human; *Genome-Wide Association Study; Humans; Kidney Neoplasms/*genetics; Polymorphism, Single Nucleotide; Risk Factors  
  Abstract We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10(-)(8)) and rs7579899 (P = 2.3 x 10(-)(9)), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 x 10(-)(1)(4)). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 x 10(-)(8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.  
  Address Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, 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:21131975; PMC3049257 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1697  
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Author Rawal, R.; Teumer, A.; Volzke, H.; Wallaschofski, H.; Ittermann, T.; Asvold, B.O.; Bjoro, T.; Greiser, K.H.; Tiller, D.; Werdan, K.; Meyer zu Schwabedissen, H.E.; Doering, A.; Illig, T.; Gieger, C.; Meisinger, C.; Homuth, G. url  doi
  Title Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function Type Journal Article
  Year 2012 Publication Human Molecular Genetics Abbreviated Journal Hum Mol Genet  
  Volume 21 Issue 14 Pages 3275-3282  
  Keywords 3',5'-Cyclic-AMP Phosphodiesterases/genetics; Adult; Aged; Aged, 80 and over; Cohort Studies; European Continental Ancestry Group/*genetics; Female; Genetic Loci; *Genetics, Population; *Genome-Wide Association Study; Germany; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide; Receptors, Mineralocorticoid/genetics; Thyroid Gland/*secretion; Thyroid Hormones/blood; Thyrotropin/blood/*secretion  
  Abstract Thyroid hormones play key roles in cellular growth, development and metabolism. Although there is a strong genetic influence on thyroid hormone levels, the genes involved are widely unknown. The levels of circulating thyroid hormones are tightly regulated by thyrotropin (TSH), which also represents the most important diagnostic marker for thyroid function. Therefore, in order to identify genetic loci associated with TSH levels, we performed a discovery meta-analysis of two genome-wide association studies including two cohorts from Germany, KORA (n = 1287) and SHIP (n = 2449), resulting in a total sample size of 3736. Four genetic loci at 5q13.3, 1p36, 16q23 and 4q31 were associated with serum TSH levels. The lead single-nucleotide polymorphisms of these four loci were located within PDE8B encoding phosphodiesterase 8B, upstream of CAPZB that encodes the beta-subunit of the barbed-end F-actin-binding protein, in a former 'gene desert' that was recently demonstrated to encode a functional gene (LOC440389) associated with thyroid volume, and upstream of NR3C2 encoding the mineralocorticoid receptor. The latter association for the first time suggests the modulation of thyroid function by mineral corticoids. All four loci were replicated in three additional cohorts: the HUNT study from Norway (n = 1487) and the two German studies CARLA (CARLA, n = 1357) and SHIP-TREND (n = 883). Together, these four quantitative trait loci accounted for approximately 3.3% of the variance in TSH serum levels. These results contribute to our understanding of genetic factors and physiological mechanisms mediating thyroid function.  
  Address Institute of Genetic Epidemiology, Helmholtz Zentrum Mu nchen, 85764 Neuherberg, Germany. rajesh.rawal@helmholtz-muenchen.de  
  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 0964-6906 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22494929 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1570  
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Author 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  
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Author Tanskanen, T.; van den Berg, L.; Valimaki, N.; Aavikko, M.; Ness-Jensen, E.; Hveem, K.; Wettergren, Y.; Bexe Lindskog, E.; Tonisson, N.; Metspalu, A.; Silander, K.; Orlando, G.; Law, P.J.; Tuupanen, S.; Gylfe, A.E.; Hanninen, U.A.; Cajuso, T.; Kondelin, J.; Sarin, A.-P.; Pukkala, E.; Jousilahti, P.; Salomaa, V.; Ripatti, S.; Palotie, A.; Jarvinen, H.; Renkonen-Sinisalo, L.; Lepisto, A.; Bohm, J.; Mecklin, J.-P.; Al-Tassan, N.A.; Palles, C.; Martin, L.; Barclay, E.; Tenesa, A.; Farrington, S.M.; Timofeeva, M.N.; Meyer, B.F.; Wakil, S.M.; Campbell, H.; Smith, C.G.; Idziaszczyk, S.; Maughan, T.S.; Kaplan, R.; Kerr, R.; Kerr, D.; Buchanan, D.D.; Win, A.K.; Hopper, J.; Jenkins, M.A.; Newcomb, P.A.; Gallinger, S.; Conti, D.; Schumacher, F.R.; Casey, G.; Cheadle, J.P.; Dunlop, M.G.; Tomlinson, I.P.; Houlston, R.S.; Palin, K.; Aaltonen, L.A. url  doi
  Title Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci Type Journal Article
  Year 2018 Publication International Journal of Cancer Abbreviated Journal Int J Cancer  
  Volume 142 Issue 3 Pages 540-546  
  Keywords Case-Control Studies; Cohort Studies; Colorectal Neoplasms/*epidemiology/*genetics; Estonia/epidemiology; Finland/epidemiology; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Polymorphism, Single Nucleotide; Registries; *colorectal cancer; *genetic predisposition to disease; *genome-wide association study; *single-nucleotide polymorphism  
  Abstract Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 x 10(-4) ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 x 10(-9) ; OR, 1.12; 95% CI, 1.08-1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3 and 20q13.33 were associated with CRC in the Finnish population (false discovery rate < 0.1), but new risk loci were not found. These results replicate the effects of multiple loci on the risk of CRC and identify shared risk alleles between the Finnish population isolate and outbred populations.  
  Address Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland  
  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 0020-7136 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:28960316 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 2180  
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Author Wu, Y.; Waite, L.L.; Jackson, A.U.; Sheu, W.H.-H.; Buyske, S.; Absher, D.; Arnett, D.K.; Boerwinkle, E.; Bonnycastle, L.L.; Carty, C.L.; Cheng, I.; Cochran, B.; Croteau-Chonka, D.C.; Dumitrescu, L.; Eaton, C.B.; Franceschini, N.; Guo, X.; Henderson, B.E.; Hindorff, L.A.; Kim, E.; Kinnunen, L.; Komulainen, P.; Lee, W.-J.; Le Marchand, L.; Lin, Y.; Lindstrom, J.; Lingaas-Holmen, O.; Mitchell, S.L.; Narisu, N.; Robinson, J.G.; Schumacher, F.; Stancakova, A.; Sundvall, J.; Sung, Y.-J.; Swift, A.J.; Wang, W.-C.; Wilkens, L.; Wilsgaard, T.; Young, A.M.; Adair, L.S.; Ballantyne, C.M.; Buzkova, P.; Chakravarti, A.; Collins, F.S.; Duggan, D.; Feranil, A.B.; Ho, L.-T.; Hung, Y.-J.; Hunt, S.C.; Hveem, K.; Juang, J.-M.J.; Kesaniemi, A.Y.; Kuusisto, J.; Laakso, M.; Lakka, T.A.; Lee, I.-T.; Leppert, M.F.; Matise, T.C.; Moilanen, L.; Njolstad, I.; Peters, U.; Quertermous, T.; Rauramaa, R.; Rotter, J.I.; Saramies, J.; Tuomilehto, J.; Uusitupa, M.; Wang, T.-D.; Boehnke, M.; Haiman, C.A.; Chen, Y.-D.I.; Kooperberg, C.; Assimes, T.L.; Crawford, D.C.; Hsiung, C.A.; North, K.E.; Mohlke, K.L. url  doi
  Title Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained Type Journal Article
  Year 2013 Publication PLoS Genetics Abbreviated Journal PLoS Genet  
  Volume 9 Issue 3 Pages e1003379  
  Keywords African Americans/genetics; Apolipoproteins A/*genetics; Cholesterol, HDL/blood/genetics; Cholesterol, LDL/blood/genetics; European Continental Ancestry Group/genetics; *Genome-Wide Association Study; Humans; Lipoproteins, HDL/blood/genetics; Lipoproteins, LDL/blood/genetics; Proprotein Convertases/*genetics; Serine Endopeptidases/*genetics; Triglycerides/blood/genetics  
  Abstract Genome-wide association studies (GWAS) have identified ~100 loci associated with blood lipid levels, but much of the trait heritability remains unexplained, and at most loci the identities of the trait-influencing variants remain unknown. We conducted a trans-ethnic fine-mapping study at 18, 22, and 18 GWAS loci on the Metabochip for their association with triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C), respectively, in individuals of African American (n = 6,832), East Asian (n = 9,449), and European (n = 10,829) ancestry. We aimed to identify the variants with strongest association at each locus, identify additional and population-specific signals, refine association signals, and assess the relative significance of previously described functional variants. Among the 58 loci, 33 exhibited evidence of association at P<1 x 10(-4) in at least one ancestry group. Sequential conditional analyses revealed that ten, nine, and four loci in African Americans, Europeans, and East Asians, respectively, exhibited two or more signals. At these loci, accounting for all signals led to a 1.3- to 1.8-fold increase in the explained phenotypic variance compared to the strongest signals. Distinct signals across ancestry groups were identified at PCSK9 and APOA5. Trans-ethnic analyses narrowed the signals to smaller sets of variants at GCKR, PPP1R3B, ABO, LCAT, and ABCA1. Of 27 variants reported previously to have functional effects, 74% exhibited the strongest association at the respective signal. In conclusion, trans-ethnic high-density genotyping and analysis confirm the presence of allelic heterogeneity, allow the identification of population-specific variants, and limit the number of candidate SNPs for functional studies.  
  Address Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America  
  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 1553-7390 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:23555291; PMC3605054 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1385  
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