Liu Nai-Jia, Wu Hui-Hui, Li Yan-Liang, Yang Zhen, Tao Xiao-Ming, Du Yan-Ping, Wang Xuan-Chun, Lu Bin, Zhang Zhao-Yun, Hu Ren-Ming, Wen Jie
Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, NO. 12 Wulumuqi Mid Road, Building 0#, Jing'an District, Shanghai, 200040, China.
Department of Endocrinology and Metabolism, Xin Hua Hospital, Shanghai Jiao Tong University, NO. 1665 Kongjiang Road, Yangpu District, Shanghai, 200020, China.
Eur J Med Res. 2015 Jan 9;20(1):3. doi: 10.1186/s40001-014-0075-3.
Genome-wide association studies (GWAS) have reported that the polymorphism rs5219 of the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) is associated with type 2 diabetes mellitus (T2DM). Given that diabetic retinopathy (DR) is one of the most common microvascular complications of T2DM, GWAS have identified a number of potential susceptibility genes for DR. However, only a fraction of them have been replicated in different studies and show consistent genetic associations with the occurrence of DR. The aim of the present study was to investigate whether common variants of KCNJ11 confer DR in a cohort of the Chinese Han population.
A case-control study of 580 T2DM patients, including 105 T2DM with DR and 475 T2DM without DR was performed. A single nucleotide polymorphism (SNP) of KCNJ11 (rs5219) was genotyped, and its association with DR was explored using a dominant genetic model. Genotyping was performed by iPLEX technology. Univariate and multivariate logistic regression (MLR) analysis controlling for confounders was conducted to evaluate the association between rs5219 and DR.
The A allele frequency of rs5219 was significantly higher in DR patients than that in the patients without DR (49.01% versus 38.68%, P <0.05). We found the minor A allele could increase the risk to develop DR (ORint = 1.58, 95% CI: 1.139 to 2.192 for allele and P = 0.006, ORint =1.607, 95% CI: 1.267 to 2.038 for genotype and P <0.001) in the Chinese Han population.
Our findings provided evidence that KCNJ11 was associated with DR in Chinese Han patients with T2DM.
全基因组关联研究（GWAS）报告称，内向整流钾通道亚家族J成员11（KCNJ11）的多态性rs5219与2型糖尿病（T2DM）相关。鉴于糖尿病视网膜病变（DR）是T2DM最常见的微血管并发症之一，GWAS已鉴定出许多DR的潜在易感基因。然而，其中只有一小部分在不同研究中得到重复验证，并显示出与DR发生一致的遗传关联。本研究的目的是调查KCNJ11的常见变异是否在中国汉族人群队列中导致DR。
对580例T2DM患者进行病例对照研究，其中包括105例患有DR的T2DM患者和475例无DR的T2DM患者。对KCNJ11的单核苷酸多态性（SNP）（rs5219）进行基因分型，并使用显性遗传模型探索其与DR的关联。基因分型通过iPLEX技术进行。进行单因素和多因素逻辑回归（MLR）分析以控制混杂因素，评估rs5219与DR之间的关联。
rs5219的A等位基因频率在DR患者中显著高于无DR患者（49.01%对38.68%，P<0.05）。我们发现，在中国汉族人群中，次要的A等位基因会增加发生DR的风险（等位基因的ORint=1.58，95%CI：1.139至2.192，P=0.006；基因型的ORint=1.607，95%CI：1.267至2.038，P<0.001）。
我们的研究结果提供了证据，表明KCNJ11与中国汉族T2DM患者的DR相关。
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