雌激素受体基因多态性与SLE的相关性研究

Relationship between estrogen receptor gene polymorphism and SLE

目的探讨雌激素受体与SLE的相关性。方法采用PCR/限制性片段长度多态性（PCR—RFLP）方法，检测82例SLE患者和正常人的雌激素受体多态性。结果雌激素受体基因各基因型在正常人男性与正常人女性中的分布频率均较为接近，男、女性均以ppxx型、PpXx型最为常见；在男女性SLE患者中分布差异有统计学意义，男性患者中PpXx型的出现频率显著高于女性患者及正常人男性。女性患者中ER基因各型出现频率与正常人女性的差异无统计学意义。结论男性患者PpXx基因型的携带率明显高于正常人男性对照，提示该基因型与男性SLE患者的易感性相关。

Objective To investigate the relationship between estrogen receptor gene polymorphism and SLE. Methods The polymorphism of estrogen receptor gene was detected using PCR-restricted fragment length polymorphism in 82 patients with SLE and normal human controls. Results The distribution of estrogen receptor gene polymorphism was similar in the male and female controls, and, ppxx and PpXx were the most common genotypes. The distribution difference of estrogen receptor gene polymorphism was signifi- cant between the female and male SLE patients. The frequency of PpXx was significantly higher in the male patients than in the female patients and normal male controls （66.6% vs 21.1%, 66.6% vs 16.7%, respectively, both P 〈 0.05）. The distribution difference of estrogen receptor gene polymorphism was of no significant difference between the female patients and normal female controls. Conclusions The distribution difference of estrogen receptor gene polymorphism is significant between the male and female SLE patients, and the frequency of PpXx in male SLE patients is higher than that in female SLE patients and normal male controls, which hints the genotype may correlate with the susceptibility of male patients with SLE.