Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study

被引：34

作者：

Ryu, Jihye ^{[1
]}

Lee, Chaeyoung ^{[1
]}

机构：

[1] Soongsil Univ, Sch Syst Biomed Sci, Seoul 156743, South Korea

来源：

HUMAN MUTATION | 2012年 / 33卷 / 04期

基金：

新加坡国家研究基金会;

关键词：

GWAS; glycosylated hemoglobin; CDKAL1; diabetes; GENOME-WIDE ASSOCIATION; TYPE-2; DIABETES-MELLITUS; COMMON VARIANTS; A(1C) LEVELS; GLUCOSE; POLYMORPHISM; LOCI; RISK; MEN;

D O I：

10.1002/humu.22040

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Genome-wide associations with glycosylated hemoglobin, which reflects the long-term glycemia, were examined using two independent cohorts of the Korea Association Resource (KARE) consortium. We first identified sequence variants within a linkage disequilibrium block (r2 > 0.98) in the intron 5 of cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) gene using 4,275 normoglycemic subjects of Cohort 1 (P < 2.5 x 10-8). The association was replicated in 3,782 normoglycemic subjects of Cohort 2. Furthermore, the sequence variants were also associated with glucose levels after oral glucose tolerance test. Especially, a strong association with 1 h glucose (P = 1.3 x 10-11) led us to interpreting that CDKAL1 might influence the level of glycosylated hemoglobin by affecting 1 h glucose level. Ultimately, accumulated effects on the glycosylated hemoglobin level by the genetic variation of CDKAL1 might affect susceptibility to type 2 diabetes mellitus. Hum Mutat 33:655659, 2012. (c) 2012 Wiley Periodicals, Inc.

引用

页码：655 / 659

页数：5

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