ERα受体基因多态性与女性原发性急性闭角型青光眼的相关研究

Correlation study between polymorphisms of estrogen receptor gene α and acute primary angle-closure glaucoma in females

目的探讨雌激素受体α(estrogen receptor α,ERα)基因多态性与女性原发性急性闭角型青光眼(acute primary angle-closure glaucoma,APACG)之间的相关性。方法采集113例女性APACG患者(APACG组)和96例年龄匹配的正常女性(对照组)静脉血,应用聚合酶链反应-限制性片段长度多态性技术,检测受试对象ERα基因PvuⅡ和XbaⅠ基因多态性的分布情况;分析PvuⅡ和XbaⅠ基因多态性与女性APACG发病之间的相关关系。结果所选研究对象基因型分布频率符合Handy-Weinberg平衡定律。APACG组ERα基因XbaⅠXX基因型频率为1.8%,而对照组为9.4%,两组之间XbaⅠ酶切位点多态性差异具有统计学意义(χ2=8.910,P=0.012),两组之间X等位基因频率分别为19.0%和30.7%,相对于x等位基因,暴露于X等位基因的OR值为0.530(OR=0.530,95%CI:0.337～0.832)。PvuⅡ多态性的分布差异无统计学意义(χ2=0.200,P=0.905)。结论 ERα基因XbaⅠ酶切多态性与女性APACG发病之间具有相关性,且X等位基因有可能是其保护性因素。

Objective To invetigate the correlation between polymorphisms of estrogen receptor gene a（ERa） and acute primary angle-closure glaucoma（APACG） in women. Methods Venous blood samples were obtained from 113 female patients with APACG（APACG group） and 96 healthy females（ control group） at the matching age. The polymorphisms distribution of ERa gene Pvu a and ERa gene Xba I in all the sub jects was detected by PCR-restriction fragment length polymorphisms （RFLP）. Then correlation between polymorphism distribution of Pvu aand Xba I and APACG in fe males was analyzed. Results The genotype frequency distribution of Pvu Ⅱ and Xba I accorded with Hardy-Weinberg Equilibrium law. Genotype frequency of XX that contains Xba I in APACG group was 1. 8% , and that in control group was 9. 4%. Significant difference was found between restriction enzyme cutting site （RECS） polymorphism of Xba I in the two groups（x2 = 8. 910,P = 0. 012）. Gene frequencies of X allele in the two groups were 19.0% and 30.7% ,respectively. The odds ratio（OR） of X allele to x allele was 0.530（ OR = 0. 530,95% CI：0. 337 -0.832 ）. Difference between the polymorphism distribution of Pvu 11 in the two groups was of no statistical significanee（x2 = 0.200 ,P = 0.905 ）. Conclusion There is a correlation between RECS polymorphism of ERa gene Xba I between APACG in females, and X allele might be the protective factor.