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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  
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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  
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