title: Genome-wide association study in a Chinese population with diabetic retinopathy.
abstract: 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.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Wayne H-H
authors.initials: WH
authors.lastname: Sheu
authors.forename: Jane Z
authors.initials: JZ
authors.lastname: Kuo
authors.forename: I-Te
authors.initials: IT
authors.lastname: Lee
authors.forename: Yi-Jen
authors.initials: YJ
authors.lastname: Hung
authors.forename: Wen-Jane
authors.initials: WJ
authors.lastname: Lee
authors.forename: Hin-Yeung
authors.initials: HY
authors.lastname: Tsai
authors.forename: J-S
authors.initials: JS
authors.lastname: Wang
authors.forename: Mark O
authors.initials: MO
authors.lastname: Goodarzi
authors.forename: Ronald
authors.initials: R
authors.lastname: Klein
authors.forename: Barbara E K
authors.initials: BE
authors.lastname: Klein
authors.forename: Eli
authors.initials: E
authors.lastname: Ipp
authors.forename: Shin-Yi
authors.initials: SY
authors.lastname: Lin
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Guo
authors.forename: Chang-Hsun
authors.initials: CH
authors.lastname: Hsieh
authors.forename: Kent D
authors.initials: KD
authors.lastname: Taylor
authors.forename: Chia-Po
authors.initials: CP
authors.lastname: Fu
authors.forename: Jerome I
authors.initials: JI
authors.lastname: Rotter
authors.forename: Yii-Der I
authors.initials: YD
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D001213:Asian / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
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