Objective To evaluate the association between polymorphism of the optic disc related genes and primary open angle glaucoma (POAG) in Inner Mongolia.Methods A retrospective study was adopted.Pathography on 108 POAG patients was collected from six hospitals in Hohhot,Baotou city from January,2014 to December,2016 as POAG group.At the same time,120 healthy persons were included as the control group.Fasting venous blood of 2 ml blood was collected by EDTA anticoagulant.Mass spectrometry was used to genotype the single nucleotide polymorphism (SNPs) of RFTN1 (rs690037),ATOH7 (rs7916697,rs3858145),CDC7 (rs1192415),CDKN2B (rs1063192) and SIX (rs10483727) in 108 patients with POAG and 120 normal controls.The association of gene polymorphism with POAG was analyzed by the x2 test and logistic regression analysis.The study protocol was approved by the Ethics Committee of Inner Mongolia Baogang Hospital,and written informed consent was obtained from each patient.Results The frequency of CDKN2B (rs1063192) G allele in the POAG group was significantly higher than that in the control group (27％ VS.17％,odds ratio[OR] =1.824,95％ confidence interval [CI]:1.163-2.861,P=0.008),whereas allele frequencies of the other 7 SNPs were not statistically different between the two groups (all at P＞ 0.05).Additive and dominant models of rs1063192 indicated that the individual with G allele was more likely to suffer from POAG,with a significant difference (P＜0.05),but A allele did not significantly reduce the risk of POAG (P＞0.05).There was no significant difference in the distribution of other SNPs genotypes between the POAG group and the control group (P＞0.05).Conclusions The polymorphism of CDKN2B (rs1063192) is associated with the susceptibility to POAG,and the minor G allele may increase the risk of POAG.%目的 探讨视盘相关基因多态性与内蒙古自治区原发性开角型青光眼(POAG)易感性的关系.方法 采用回顾性研究设计,纳入2014年1月至2016年12月内蒙古自治区(呼和浩特市、包头市)6所医院确诊的POAG患者108例作为POAG组,同期纳入120名健康体检者作为对照组.2个组患者用EDTA抗凝管抽取1～2 ml全血,提取基因组DNA,充分混匀EDTA和全血,提取基因组DNA于-20℃冰箱中保存.采用质谱分析法对108例POAG患者和120例对照者的RFTN1 rs690037)、ATOH7(rs7916697、rs3858145)、CDC7(rs1192415)、CDKN2B(rs1063192)和SIX(rs10483727)单核苷酸多态性(SNP)位点进行基因分型,采用x2检验和Logsitic二元回归分析各位点多态性与POAG发病的关系. 结果 POAG组CDKN2B(rs1063192)位点G等位基因频率高于对照组(27％与17％),差异有统计学意义[优势比(OR)=1.824,95％可信区间(CI)1.163 ～2.861,P=0.008];2个组其他7个SNPs位点等位基因频率比较,差异均无统计学意义(均P＞0.05).CDKN2B(rs1063192)位点的加性模型和显性模型显示,携带G等位基因个体罹患POAG风险增高,差异有统计学意义(P＜0.05),隐性模型显示,携带A等位基因个体罹患POAG风险无显著降低,差异无统计学意义(P＞0.05).POAG和对照组其他SNPs各基因型分布比较,差异无统计学意义(P＞0.05). 结论 CDKN2B(rs1063192)基因多态性与POAG易感性有关,G等位基因可增加个体罹患POAG的风险.
展开▼
