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A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.
Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S; Diabetes Prevention Program Research Group; Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M; Broad Genomics Platform; Gabriel S; T2D-GENES Consortium; Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, Florez JC; SIGMA T2D Genetics Consortium. Mercader JM, et al. Diabetes. 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. Epub 2017 Aug 24. Diabetes. 2017. PMID: 28838971 Free PMC article.
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
SIGMA Type 2 Diabetes Consortium; Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, Gómez-Vázquez MJ, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, Tusié-Luna T, Altshuler D. SIGMA Type 2 Diabetes Consortium, et al. Nature. 2014 Feb 6;506(7486):97-101. doi: 10.1038/nature12828. Epub 2013 Dec 25. Nature. 2014. PMID: 24390345 Free PMC article.
Phasing of many thousands of genotyped samples.
Williams AL, Patterson N, Glessner J, Hakonarson H, Reich D. Williams AL, et al. Am J Hum Genet. 2012 Aug 10;91(2):238-51. doi: 10.1016/j.ajhg.2012.06.013. Am J Hum Genet. 2012. PMID: 22883141 Free PMC article.