Genome-wide association study in a Chinese population with diabetic retinopathy

Diabetic retinopathy (DR) is a leading cause of preventable blindness in adults. To identify genetic contributions in DR, we studied 2071 type 2 diabetics. We first conducted a genome-wide association study of 1007 individuals, comparing 570 subjects with ≥8 years duration without DR (controls) with...

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Bibliographic Details
Published in:Human molecular genetics 2013-08, Vol.22 (15), p.3165-3173
Main Authors: Sheu, Wayne H-H, Kuo, Jane Z, Lee, I-Te, Hung, Yi-Jen, Lee, Wen-Jane, Tsai, Hin-Yeung, Wang, J-S, Goodarzi, Mark O, Klein, Ronald, Klein, Barbara E K, Ipp, Eli, Lin, Shin-Yi, Guo, Xiuqing, Hsieh, Chang-Hsun, Taylor, Kent D, Fu, Chia-Po, Rotter, Jerome I, Chen, Yii-Der I
Format: Article
Language:English
Subjects:
Adult
Aged
Apoptosis
Asian Americans - genetics
Association Studies
Case-Control Studies
Chromosome Mapping
Diabetic Retinopathy - epidemiology
Diabetic Retinopathy - genetics
Female
Genetic Loci
Genome-Wide Association Study
Hispanic Americans - genetics
Humans
Male
Meta-Analysis as Topic
Middle Aged
Polymorphism, Single Nucleotide
Risk Factors
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Summary:Diabetic retinopathy (DR) is a leading cause of preventable blindness in adults. To identify genetic contributions in DR, we studied 2071 type 2 diabetics. We first conducted a genome-wide association study of 1007 individuals, comparing 570 subjects with ≥8 years duration without DR (controls) with 437 PDR (cases) in the Chinese discovery cohort. Cases and controls were similar for HbA1c, diabetes duration and body mass index. Association analysis with imputed data identified three novel loci: TBC1D4-COMMD6-UCHL3 (rs9565164, P = 1.3 × 10(-7)), LRP2-BBS5 (rs1399634, P = 2.0 × 10(-6)) and ARL4C-SH3BP4 (rs2380261, P = 2.1 × 10(-6)). Analysis of an independent cohort of 585 Hispanics diabetics with or without DR though did not confirm these signals. These genes are still of particular interest because they are involved in insulin regulation, inflammation, lipid signaling and apoptosis pathways, all of which are possibly involved with DR. Our finding nominates possible novel loci as potential DR susceptibility genes in the Chinese that are independent of the level of HbA1c and duration of diabetes and may provide insight into the pathophysiology of DR.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddt161