雌激素受体单核苷酸多态性与妊娠期肝内胆汁淤积症遗传易感性研究

目的探讨雌激素受体单核苷酸的多态性与妊娠期肝内胆汁淤积症（ICP）遗传易感性的相互关系。方法应用PCR和RFLP技术,对我院2009年8月～2011年10月收治的200例ICP患者（ICP组）及200例非ICP患者（对照组）产妇的雌激素受体α（ERα）基因多态性进行分析。结果 ICP组ERαPvuⅡ酶切后基因型PP、Pp、pp的基因频率以及等位基因P与p的基因频率与对照组差异无统计学意义（P〉0.05）;ERαXbaⅠ酶切后基因型XX、Xx、xx基因频率以及等位基因X与x的基因频率与对照组差异无统计学意义（P〉0.05）。两组ERα基因的PvuⅡ和XbaⅠ的联合基因型分布差异无统计学意义（P〉0.05）。结论雌激素受体单核苷酸的多态性与ICP的发病无明显相关。

Study on the association between the single nucleotide polymorphism of estrogen receptor and intrahepatic cholestasis of pregnancy

Objective To investigate the relationship of genetic predisposition between estrogen receptor single nucleotide polymorphisms and intrahepatic cholestasis of pregnancy(ICP) susceptibility.Methods 200 cases of estrogen receptor alpha(Erα) gene polymorphism patients with ICP(ICP group) and 200 cases without ICP(control group) were analyzed by PCR and RFLP technology from August 2009 to October 2011 in our hospital.Results The frequency of ERα in ICP group with genotype PP,Pp,PP after Pvu Ⅱ restriction had no statistically difference with that of the control group(P > 0.05),so was the allele P and p gene frequency.The frequency of ERα in ICP group with genotype XX,Xx,xx after XbaⅠ restriction had no statistically difference with that of the control group(P > 0.05),so was the allele X and x gene frequency.There was no statistical difference in ERα gene between the Pvu Ⅱ and XbaⅠ joint genotype(P > 0.05).Conclusion The ERa gene polymorphism is not associated with the risk of ICP.