A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.

Published online

Journal Article

To investigate the underlying mechanisms of T2D pathogenesis, we looked for diabetes susceptibility genes that increase the risk of type 2 diabetes (T2D) in a Han Chinese population. A two-stage genome-wide association (GWA) study was conducted, in which 995 patients and 894 controls were genotyped using the Illumina HumanHap550-Duo BeadChip for the first genome scan stage. This was further replicated in 1,803 patients and 1,473 controls in stage 2. We found two loci not previously associated with diabetes susceptibility in and around the genes protein tyrosine phosphatase receptor type D (PTPRD) (P = 8.54x10(-10); odds ratio [OR] = 1.57; 95% confidence interval [CI] = 1.36-1.82), and serine racemase (SRR) (P = 3.06x10(-9); OR = 1.28; 95% CI = 1.18-1.39). We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (P = 9.65x10(-10); OR = 1.29, 95% CI = 1.19-1.40). By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the involvement of KCNQ1, which was previously reported to be associated with T2D in Japanese and European descent populations, our results may lead to a better understanding of differences in the molecular pathogenesis of T2D among various populations.

Full Text

Duke Authors

Cited Authors

  • Tsai, F-J; Yang, C-F; Chen, C-C; Chuang, L-M; Lu, C-H; Chang, C-T; Wang, T-Y; Chen, R-H; Shiu, C-F; Liu, Y-M; Chang, C-C; Chen, P; Chen, C-H; Fann, CSJ; Chen, Y-T; Wu, J-Y

Published Date

  • February 19, 2010

Published In

Volume / Issue

  • 6 / 2

Start / End Page

  • e1000847 -

PubMed ID

  • 20174558

Pubmed Central ID

  • 20174558

Electronic International Standard Serial Number (EISSN)

  • 1553-7404

Digital Object Identifier (DOI)

  • 10.1371/journal.pgen.1000847


  • eng

Conference Location

  • United States