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Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Gloyn AL, et al. Among authors: mccarthy mi. Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568. Diabetes. 2003. PMID: 12540637
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
Barber TM, Bennett AJ, Gloyn AL, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Weedon MN, Hartikainen AL, Wass JA, Järvelin MR, Zeggini E, Franks S, McCarthy MI. Barber TM, et al. Among authors: mccarthy mi. Eur J Hum Genet. 2007 Jun;15(6):679-84. doi: 10.1038/sj.ejhg.5201802. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342155
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Smith GD, Hattersley AT, McCarthy MI. Frayling TM, et al. Among authors: mccarthy mi. Science. 2007 May 11;316(5826):889-94. doi: 10.1126/science.1141634. Epub 2007 Apr 12. Science. 2007. PMID: 17434869 Free PMC article.
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, Jackson AU, Lim N, Scheet P, Soranzo N, Amin N, Aulchenko YS, Chambers JC, Drong A, Luan J, Lyon HN, Rivadeneira F, Sanna S, Timpson NJ, Zillikens MC, Zhao JH, Almgren P, Bandinelli S, Bennett AJ, Bergman RN, Bonnycastle LL, Bumpstead SJ, Chanock SJ, Cherkas L, Chines P, Coin L, Cooper C, Crawford G, Doering A, Dominiczak A, Doney AS, Ebrahim S, Elliott P, Erdos MR, Estrada K, Ferrucci L, Fischer G, Forouhi NG, Gieger C, Grallert H, Groves CJ, Grundy S, Guiducci C, Hadley D, Hamsten A, Havulinna AS, Hofman A, Holle R, Holloway JW, Illig T, Isomaa B, Jacobs LC, Jameson K, Jousilahti P, Karpe F, Kuusisto J, Laitinen J, Lathrop GM, Lawlor DA, Mangino M, McArdle WL, Meitinger T, Morken MA, Morris AP, Munroe P, Narisu N, Nordström A, Nordström P, Oostra BA, Palmer CN, Payne F, Peden JF, Prokopenko I, Renström F, Ruokonen A, Salomaa V, Sandhu MS, Scott LJ, Scuteri A, Silander K, Song K, Yuan X, Stringham HM, Swift AJ, Tuomi T, Uda M, Vollenweider P, Waeber G, Wallace C, Walters GB, Weedon MN; Wellcome Trust Case Control Consortium; Witteman JC, Zhang C, Zhang W, Cau… See abstract for full author list ➔ Lindgren CM, et al. Among authors: mccarthy mi. PLoS Genet. 2009 Jun;5(6):e1000508. doi: 10.1371/journal.pgen.1000508. Epub 2009 Jun 26. PLoS Genet. 2009. PMID: 19557161 Free PMC article.
775 results