Li Rong, Chen Peng, Li Jing, Yan Mengdan, Li Jingjie, Li Shanqu, Zhu Hongli
School of Life Sciences, Northwest University, Xi'an, Shaanxi, China.
Department of Ophthalmology, the First Affiliated Hospital of Xi'an Medical University, Xi'an, Shaanxi, China.
J Gene Med. 2017 Jun;19(6-7). doi: 10.1002/jgm.2960.
Little is known about the contribution of ARHGAP22 polymorphism to diabetic retinopathy (DR) risk. We performed a case-control study to investigate the associations between ARHGAP22 and the risk of DR in a Chinese Han population.
A total of 341 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 188 patients with DR and 153 patients without DR. Five single nucleotide polymorphism (SNPs) were selected and genotyped using the MassARRAY method (Sequenom, San Diego, CA, USA). The odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age and sex.
Two susceptibility SNPs in ARHGAP22 were found to be associated with an increased risk of DR both before and after the adjustment: rs10491034 under the dominant model (adjusted OR = 0.51, 95% CI = 0.27-0.95, p = 0.032) and additive model (adjusted OR = 0.47, 95% CI = 0.26-0.84, p = 0.0098) and rs3844492 under the codominant model (adjusted OR = 3.14, 95% CI = 1.10-9.01, p = 0.023) and recessive model (adjusted OR = 3.52, 95% CI = 1.26-9.85, p = 0.011).
Our findings reveal a significant association between SNPs in the ARHGAP22 gene and DR risk in a Han Chinese population.
关于ARHGAP22基因多态性对糖尿病视网膜病变（DR）风险的影响知之甚少。我们进行了一项病例对照研究，以调查中国汉族人群中ARHGAP22与DR风险之间的关联。
共选取341例2型糖尿病（T2DM）患者。所有患者均接受了全面的眼部检查。据此，将T2DM患者分为两个亚组：188例DR患者和153例非DR患者。选择五个单核苷酸多态性（SNP），并使用MassARRAY方法（美国加利福尼亚州圣地亚哥的Sequenom公司）进行基因分型。通过对年龄和性别进行调整的无条件逻辑回归计算比值比（OR）和95%置信区间（CI）。
发现ARHGAP22中的两个易感SNP在调整前后均与DR风险增加相关：显性模型下的rs10491034（调整后的OR = 0.51，95% CI = 0.27 - 0.95，p = 0.032）和加性模型下的rs10491034（调整后的OR = 0.47，95% CI = 0.26 - 0.84，p = 0.0098），以及共显性模型下的rs3844492（调整后的OR = 3.14，95% CI = 1.10 - 9.01，p = 0.023）和隐性模型下的rs3844492（调整后的OR = 3.52，95% CI = 1.26 - 9.85，p = 0.011）。
我们的研究结果揭示了ARHGAP22基因中的SNP与中国汉族人群DR风险之间存在显著关联。
