摘要
目的:探讨参与雌激素代谢的CYP1A2和COMT基因多态性与成都地区妊娠期肝内胆汁淤积症(ICP)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,对成都地区100例ICP患者(ICP组)和100例正常孕妇(对照组)的CYP1A2基因5-'侧翼区G-2964A多态和COMT基因第4外显子第158号密码子G→A点突变所引起的缬氨酸→蛋氨酸(Val 158 Met)的错义突变多态进行分析。结果:CYP1A2 GA杂合基因型明显增加ICP的发病风险(P=0.029,OR=1.896),COMT含V等位基因的VV和VM基因型也明显增加ICP的发病风险(P=0.027,OR=3.996);两基因组合分析表明同时具有CYP1A2等位基因G和COMT等位基因V的个体发生ICP的风险显著增加(P=0.011,OR=2.852)。结论:CYP1A2和COMT基因单核苷酸多态性与成都地区ICP的易感性有关。
Objective：To investigate whether polymorphisms in estrogen-metabolizing genes （ CYP1A2 and COMT） were associated with intrahepatic cholestasis of pregnancy （ICP） in Chengdu area. Methods：The G-2964A polymorphism in the 5-flanking region of CYP1A2 gene and the Val 158 Met polymorphism caused by the missense mutation of G→A in exon 4 of COMT 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） in Chengdu. Results：The GA genotype of CYP1A2 significantly elevated risk of ICP（P =0.029,OR = 1. 896） ,so did the VV ＋ VM genotypes of COMT （P =0.027 ,OR =3. 996）. Women with allele G of CYP1A2 and allele V of COMT simultaneously also had a significantly increased risk of ICP（P =0. 011 ,OR =2.852）. Conclusion：The single nucleotide polymorphisms in estrogen-metabolizing genes CYP1A2 and COMT are associated with the risk of ICP in Chengdu area.
出处
《现代妇产科进展》
CSCD
北大核心
2006年第6期430-433,共4页
Progress in Obstetrics and Gynecology
基金
国家教育部博士点基金资助项目(编号20020610030)
