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

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• 作者：Danfeng Peng ; Jie Wang ; Rong Zhang ; Feng Jiang ; Shanshan Tang ; Miao Chen…
• 关键词：Diabetic retinopathy ; Polymorphisms ; Type 2 diabetes
• 刊名：Diabetologia
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：58
• 期：6
• 页码：1231-1238
• 全文大小：175 KB
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• 作者单位：Danfeng Peng (1)
  Jie Wang (1)
  Rong Zhang (1)
  Feng Jiang (1)
  Shanshan Tang (1)
  Miao Chen (1)
  Jing Yan (1)
  Xue Sun (1)
  Shiyun Wang (1)
  Tao Wang (1)
  Dandan Yan (1)
  Yuqian Bao (1)
  Cheng Hu (1) (2)
  Weiping Jia (1)
  
  1. Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, 600 Yishan Road, Shanghai, 200233, People’s Republic of China
  2. Institute for Metabolic Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital South Campus, Shanghai, People’s Republic of China
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Internal Medicine
  Metabolic Diseases
  Human Physiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0428

文摘

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 ??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--.0039 and OR 0.835, p--.0116, respectively) and with the severity of diabetic retinopathy (p--.0365 and p--.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--.0333 and OR 0.340, p--.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--.01?×-0? for rs6427247; OR 0.330, p--.84?×-0? 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.