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The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies.
De Silva NM, Steele A, Shields B, Knight B, Parnell K, Weedon MN, Hattersley AT, Frayling TM. De Silva NM, et al. Among authors: weedon mn. Diabet Med. 2007 Oct;24(10):1067-72. doi: 10.1111/j.1464-5491.2007.02253.x. Epub 2007 Aug 24. Diabet Med. 2007. PMID: 17725629
FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.
Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, Krishnaveni GV, Veena SR, Fall CH, McCarthy MI, Frayling TM, Hattersley AT, Chandak GR. Yajnik CS, et al. Among authors: weedon mn. Diabetologia. 2009 Feb;52(2):247-52. doi: 10.1007/s00125-008-1186-6. Epub 2008 Nov 13. Diabetologia. 2009. PMID: 19005641 Free PMC article.
Type 2 diabetes risk alleles are associated with reduced size at birth.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, Perry JR, Pouta A, Ruokonen A, Hyppönen E, Power C, Elliott P, Strachan DP, Järvelin MR, Smith GD, McCarthy MI, Frayling TM, Hattersley AT. Freathy RM, et al. Among authors: weedon mn. Diabetes. 2009 Jun;58(6):1428-33. doi: 10.2337/db08-1739. Epub 2009 Feb 19. Diabetes. 2009. PMID: 19228808 Free PMC article.
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.
Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, Paolisso G, Walker M, Palmer CN, Payne F, Young E, Herder C, Narisu N, Morken MA, Bonnycastle LL, Owen KR, Shields B, Knight B, Bennett A, Groves CJ, Ruokonen A, Jarvelin MR, Pearson E, Pascoe L, Ferrannini E, Bornstein SR, Stringham HM, Scott LJ, Kuusisto J, Nilsson P, Neptin M, Gjesing AP, Pisinger C, Lauritzen T, Sandbaek A, Sampson M; MAGIC; Zeggini E, Lindgren CM, Steinthorsdottir V, Thorsteinsdottir U, Hansen T, Schwarz P, Illig T, Laakso M, Stefansson K, Morris AD, Groop L, Pedersen O, Boehnke M, Barroso I, Wareham NJ, Hattersley AT, McCarthy MI, Frayling TM. Perry JR, et al. Among authors: weedon mn. Hum Mol Genet. 2010 Feb 1;19(3):535-44. doi: 10.1093/hmg/ddp522. Epub 2009 Nov 18. Hum Mol Genet. 2010. PMID: 19933169 Free PMC article.
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM; Alcohol Genome-wide Association (AlcGen) Consort… See abstract for full author list ➔ Chambers JC, et al. Nat Genet. 2011 Oct 16;43(11):1131-8. doi: 10.1038/ng.970. Nat Genet. 2011. PMID: 22001757 Free PMC article.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.
298 results