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Diabetologia
Published in: Diabetologia 6/2015

01-06-2015 | Article

Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes

Authors: Danfeng Peng, Jie Wang, Rong Zhang, Feng Jiang, Shanshan Tang, Miao Chen, Jing Yan, Xue Sun, Shiyun Wang, Tao Wang, Dandan Yan, Yuqian Bao, Cheng Hu, Weiping Jia

Published in: Diabetologia | Issue 6/2015

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Abstract

Aims/hypothesis

Three recent genome-wide association studies (GWAS) identified several single-nucleotide polymorphisms (SNPs) with modest effects on diabetic retinopathy in Mexican-American and white patients with diabetes. This study aimed to evaluate the effects of these variants on diabetic retinopathy in Chinese patients with type 2 diabetes.

Methods

A total of 1,972 patients with type 2 diabetes were recruited to this study, including 819 patients with diabetic retinopathy and 1,153 patients with diabetes of ≥5 years duration but without retinopathy. Forty SNPs associated with diabetic retinopathy in three GWAS were genotyped. Fundus photography was performed to diagnose and classify diabetic retinopathy.

Results

rs17684886 in ZNRF1 and rs599019 near COLEC12 were associated with diabetic retinopathy (OR 0.812, p = 0.0039 and OR 0.835, p = 0.0116, respectively) and with the severity of diabetic retinopathy (p = 0.0365 and p = 0.0252, respectively, for trend analysis). Sub-analysis in patients with diabetic retinopathy revealed that rs6427247 near SCYL1BP1 (also known as GORAB) and rs899036 near API5 were associated with severe diabetic retinopathy (OR 1.368, p = 0.0333 and OR 0.340, p = 0.0005, respectively). The associations between rs6427247 and rs899036 and severe diabetic retinopathy became more evident after a meta-analysis of published GWAS data (OR 1.577, p = 2.01 × 10−4 for rs6427247; OR 0.330, p = 5.84 × 10−7 for rs899036).

Conclusions/interpretation

We determined that rs17684886 and rs599019 are associated with diabetic retinopathy and that rs6427247 and rs899036 are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes.
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Metadata
Title
Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes
Authors
Danfeng Peng
Jie Wang
Rong Zhang
Feng Jiang
Shanshan Tang
Miao Chen
Jing Yan
Xue Sun
Shiyun Wang
Tao Wang
Dandan Yan
Yuqian Bao
Cheng Hu
Weiping Jia
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
Diabetologia / Issue 6/2015
Print ISSN: 0012-186X
Electronic ISSN: 1432-0428
DOI
https://doi.org/10.1007/s00125-015-3569-9

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