雌激素受体α基因多态性与妊娠肝内胆汁淤积症相关性研究

目的探讨雌激素受体α（ERα）基因多态性与妊娠肝内胆汁淤积症（ICP）发病的关系.方法应用PCR-限制性片段长度多态性（PCR-RFLP）技术,对100例ICP患者（ICP组）和100例正常孕妇（对照组）ERα基因1号内含子Xba Ⅰ和PvuⅡ酶切多态性进行分析.结果（1）对照组ERα基因的Xba Ⅰ基因型XX、Xx、xx频率分别为6%、33%、61%,ICP组分别为2%、33%、65%,两组比较,差异无统计学意义（P＞0.05）;对照组等位基因X、x频率分别为23%、78%,ICP组分别为19%、82%,两组比较,差异也无统计学意义（P＞0.05）.（2）对照组ERα基因的PvuⅡ基因型PP、Pp、pp频率分别为18%、42%、40%,ICP组分别为12%、53%、35%,两组比较,差异无统计学意义（P＞0.05）;对照组等位基因P、p频率分别为39%、61%,ICP组分别为39%、62%,两组比较,差异也无统计学意义（P＞0.05）.（3）ERα基因的Xba Ⅰ和PvuⅡ组合基因型在两组间分布比较,差异无统计学意义（P＞0.05）.结论ERα基因多态性与ICP发病无关.

Study on the association between estrogen receptor alpha gene polymorphism and intrahepatic cholestasis of pregnancy

OBJECTIVE: To investigate the relationship between estrogen receptor alpha (ERalpha) gene polymorphism and intrahepatic cholestasis of pregnancy (ICP). METHODS: The Xba I and Pvu II polymorphisms in intron 1 of ER alpha gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 100 pregnant women with ICP (ICP group) and 100 normal pregnant women (control group). RESULTS: (1) The frequencies of XX, Xx and xx genotypes of Xba I polymorphism were 6%, 33% and 61% respectively in control group, and were 2%, 33% and 65% respectively in ICP group. There was no significant difference in the distribution of Xba I genotypes between the two groups (P > 0.05). The frequencies of the two alleles X and x were 23% and 78% in control group, and were 19% and 82% in ICP group, respectively. There was also no significant difference in the frequency of Xba I alleles between the two groups (P > 0.05). (2) The frequencies of PP, Pp and pp genotypes of Pvu II polymorphism were 18%, 42% and 40% respectively in control group, and were 12%, 53% and 35% respectively in ICP group. There was no significant difference in the distribution of Pvu II genotypes between the two groups (P > 0.05). The frequencies of the two alleles P and p were 39% and 61% in control group, and were 39% and 62% in ICP group, respectively. There was also no significant difference in the frequency of Pvu II alleles between the two groups (P > 0.05). (3) There was also no significant difference in the distribution of Xba I and Pvu II combinative genotype between the two groups (P > 0.05). CONCLUSION: The ERalpha gene polymorphism is not associated with the risk of ICP.