Article
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.
Nature genetics - 1 Feb 2013
Huyghe Jeroen R, Jackson Anne U, Fogarty Marie P, Buchkovich Martin L, Stančáková Alena, Stringham Heather M, Sim Xueling, Yang Lingyao, Fuchsberger Christian, Cederberg Henna, Chines Peter S, Teslovich Tanya M, Romm Jane M, Ling Hua, McMullen Ivy, Ingersoll Roxann, Pugh Elizabeth W, Doheny Kimberly F, Neale Benjamin M, Daly Mark J, Kuusisto Johanna, Scott Laura J, Kang Hyun Min, Collins Francis S, Abecasis Gonçalo R, Watanabe Richard M, Boehnke Michael, Laakso Markku, Mohlke Karen L
Abstract excerpt
Insulin secretion has a crucial role in glucose homeostasis, and failure to secrete sufficient insulin is a hallmark of type 2 diabetes. Genome-wide association studies (GWAS) have identified loci contributing to insulin processing and secretion; however, a substantial fraction of the genetic contribution remains undefined. To examine low-frequency (minor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%)...
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