雌激素代谢酶CYP17、COMT基因多态性与妊娠期肝内胆汁淤积症易感性的关系

目的探讨参与雌激素合成和代谢的CYP17和COMT基因多态性与成都地区妊娠期肝内胆汁淤积症（ICP）发病的关系。方法应用聚合酶链反应．限制性片段长度多态性（PCR—RFLP）技术,对100例ICP患者和100名正常对照孕妇CYPl7基因启动予区（T．C）多态和COMT基因外显子4密码子158（G—A）多态性进行分析。结果①两组均存在CYP17基因T．c多态,但两组基因型TF、TC、CC频率和等位基因T、c频率的比较差异均无统计学意义（P〉0．05）;②两组均存在COMT基因G．A多态,但两组基因型GG、GA、AA频率和等位基因G、A频率的比较差异均无统计学意义（P〉0．05）。结论CYP17和COMT基因单核苷酸多态性与成都地区ICP发病风险无相关性。

Association between polymorphisms of CYP17 and COMT genes and intrahepatic cholestasis of pregnancy in chengdu

Objective To investigate whether polymorphisms in the estrogen-metabolizing genes （CYP17 and COMT） are associated with intrabepatic cholestasis of pregnancy （ICP） in chengdu. Methods The T-C polymorphism in the 5-untrans- lated region of CYP17 gene and the G-A polymorphism in exon 4 codon 158 of COMT gene were detected by polymerase chain re- action-restricition fragment length polymorphism （PCR-RFLP） in a case-control study,including 100 eases of 1CP and 100 cases as controls. Results （1）The T-C polymorphism of the CYP17 gene was shown clearly in ICP and control groups,but the genotype distributions（ TT,TC and CC）and allele frequencies（T and C）of CYP17 polymorphism were of no significant difference between the two group （P〉0. 05 ） ;（2）The G-A polymorphism of the COMT gene was shown clearly in ICP and control groups, but the geno- type distributions（ GG,GA and AA）and allele frequencies（ G and A）of COMT polyrnorphism were of no significant difference be- tween the two group（ P〉0.05 ）. Conclusion The T-C polymorphism of CYP17 gene and the G-A polymorphism of COMT gene are not associated with the risk of ICP in chengdu aera.