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

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

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XbaⅠ和PvuⅡ酶切多态性进行分析。结果(1)对照组ERα基因的XbaⅠ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XbaⅠ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。

Objective To investigate the relationship between estrogen receptor alpha （ERct）gene polymorphism and intrahepatic cholestasis of pregnancy （ICP）. Methods The Xba Ⅰ and Pvu Ⅱ polymorphisms in intron 1 of ERα 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 （ contral group）. Results （ 1 ） The frequencies of XX, Xx and xx genotypes of Xba Ⅰpolymorphism 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 Ⅰgenotypes 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% and40% respectively in control group, and were 12%, 53% and 35% respectively in ICP group. There was no significant difference in the distribution of Pvu Ⅱbetween 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 PvuⅡalleles between the two groups （ P〉0.05 ）. （ 3 ） There was also no significant difference in the distribution of Xba Ⅱand Pvu Ⅱcombinative genotype between the two groups （ P 〉0.05）. Conclusion The ERα gene polymorphism is not associated with the risk of ICP.