Tikunova Evgeniya, Ovtcharova Veronika, Reshetnikov Evgeny, Dvornyk Volodymyr, Polonikov Alexey, Bushueva Olga, Churnosov Mikhail
Department of Medical Biological Disciplines, Belgorod State University, Belgorod 308015, Russia.
School of Biological Sciences, University of Hong Kong, Hong Kong, China.
Int J Ophthalmol. 2017 Oct 18;10(10):1490-1494. doi: 10.18240/ijo.2017.10.02. eCollection 2017.
To examine the association of genetic polymorphisms (-308)G/A , (+250)A/G , (+36)A/G , (+1663)A/G 2 with the development of primary open angle glaucoma (POAG) among people in Central Russia.
The study sample included 443 individuals, of which 252 patients with POAG and 191 individuals in the control group. Genotyping of (-308)G/A , (+250)A/G , (+36)A/G , (+1663)A/G 2 was performed using polymerase chain reaction. The distribution of alleles and genotypes of the studied DNA markers in the groups was examined by 2×2 contingency tables and with the Yates's correction for continuity and odds ratios (OR) with 95% confidence intervals (CI).
Allele (-308)G (=0.01, OR=1.78, 95%CI 1.12-2.85) was identified as a risk factor for POAG. Homozygotes (-308) AA are at a lowest risk for development of the disease (=0.01, OR=0.0005). The following combination of genetic variants of cytokines were associated with a reduced risk of POAG: (+1663)A and (+250)G (OR=0.34).
Genetic polymorphisms (-308)G/A , (+250)A/G , (+1663)A/G associated with the development of POAG in the population of Central Russia.
研究俄罗斯中部人群中基因多态性（-308）G/A、（+250）A/G、（+36）A/G、（+1663）A/G 2与原发性开角型青光眼（POAG）发病的相关性。
研究样本包括443人，其中252例POAG患者和191例对照组个体。采用聚合酶链反应对（-308）G/A、（+250）A/G、（+36）A/G、（+1663）A/G 2进行基因分型。通过2×2列联表以及采用连续性校正的Yates检验和95%置信区间（CI）的比值比（OR）来检测研究的DNA标记在各组中的等位基因和基因型分布。
等位基因（-308）G（P=0.01，OR=1.78，95%CI 1.12 - 2.85）被确定为POAG的危险因素。纯合子（-308）AA患该病的风险最低（P=0.01，OR=0.0005）。细胞因子基因变异的以下组合与POAG风险降低相关：（+1663）A和（+250）G（OR=0.34）。
在俄罗斯中部人群中，基因多态性（-308）G/A、（+250）A/G、（+1663）A/G与POAG的发病相关。
