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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
Nature genetics, 02/2013, Letnik: 45, Številka: 2Journal Article
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%) nonsynonymous variants, we analyzed exome array data in 8,229 nondiabetic Finnish males using the Illumina HumanExome Beadchip. We identified low-frequency coding variants associated with fasting proinsulin concentrations at the SGSM2 and MADD GWAS loci and three new genes with low-frequency variants associated with fasting proinsulin or insulinogenic index: TBC1D30, KANK1 and PAM. We also show that the interpretation of single-variant and gene-based tests needs to consider the effects of noncoding SNPs both nearby and megabases away. This study demonstrates that exome array genotyping is a valuable approach to identify low-frequency variants that contribute to complex traits.
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