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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 α (ERα) gene polymorphism and pregnancy induced intrahepatic cholestasis (ICP). Methods PCR-RFLP was used to detect the polymorphisms of XbaⅠ and PvuⅡ in ERα gene of 100 ICP patients (ICP group) and 100 normal pregnant women (control group) analysis. Results The frequency of XX, Xx, and Xx of XbaⅠ genotype of ERα gene in control group were 6%, 33% and 61% respectively, and those in ICP group were 2%, 33% and 65% respectively (P> 0.05). The frequencies of allele X and X in the control group were 23% and 78% respectively, while those in ICP group were 19% and 82% respectively. There was no significant difference between the two groups (P> 0.05). (2) The frequency of PPu, Pp and pp in the PvuII genotypes of ERα gene were 18%, 42% and 40% in the control group and 12%, 53% and 35% in the ICP group respectively. There was no significant difference between the two groups (P> 0.05). The frequencies of allele P and P in control group were 39% and 61% respectively, and those in ICP group were 39% and 62% respectively. There was no significant difference between the two groups (P> 0.05). (3) There was no significant difference in genotype distribution of XbaⅠand PvuⅡof ERα between the two groups (P> 0.05). Conclusion ERα gene polymorphism has nothing to do with the incidence of ICP.