CYP 1B1基因A119S多态性与妊娠期肝内胆汁淤积症风险关系的研究

目的:探讨CYP1B1基因A119S多态性与妊娠期肝内胆汁淤积症(ICP)发生危险性的关系。方法:用等位基因特异性PCR(AS-PCR)法,对73例妊娠期肝内胆汁淤积症患者和90例正常女性的CYP1B1 A119S多态位点进行检测分析,确定出多态性的3种基因型,即野生型G/G、杂合型G/T、突变型T/T。结果:CYP1B1基因A119S多态性G/G、G/T、T/T 3种基因型分布频率,ICP组分别为3.8%、39.7%和16.5%,对照组分别为64.4%、26.7%和8.9%;ICP组G、T等位基因频率为63.7%,36.3%,对照组为77.8%,22.2%。CYP1B1 A119S多态性基因型及等位基因型在两组间分布频率的差别有统计学意义(P<0.05)。基因型T/T与G/G比较、G/T与G/G比较,OR值分别为2.719(1.007～7.341)倍和2.190(1.096～4.375)倍;等位基因T使ICP危险性增加了1.995(1.226～3.246)倍。结论:CYP1B1 A119S多态位点3种基因型的分布与ICP发病风险有一定关联,突变基因型增加了ICP的发病风险。

Study on the relationship between gene polymorphism of CYP1B1 A119S and risk of intrahepatic cholestasis of pregnancy

Objective:To explore the relationship between gene polymorphism of CYP1B1 A119S and the occurrence of intrahepatic cholestasis of pregnancy(ICP).Methods:Allele-specific polymerase chain reaction method(AS-PCR) was used to analyze gene polymorphism locus in exon 2 codon 119(G-T) of CYP1B1 in 73 cases with endometrial cancer and 90 normal women.Three genotypes were defined,including homozygous wild type(G/G),heterozygous variant(G/T),and homozygous variant(T/T).Results:The prevalence rates of CYP1B1 A119S genotypes G/G,G/T,and T/T were 3.8%,39.7%,and 16.5% in ICP group,64.4%,26.7%,and 8.9% in control group.The frequencies of CYP1B1 G and T alleles were 63.7% and 36.3% in ICP group,77.8% and 22.2% in control group,respectively.There were statistically significant differences in distribution frequencies of polymorphism genotypes and alleles of CYP1B1 A119S between the two groups(P<0.05).Compared with G/G,the OR value of T/T was 2.719(1.007-7.341),the OR value of GT was 2.190(1.096-4.375),respectively.The risk of ICP in patients with T allele increased by 1.995 times(1.226-3.246).Conclusion:The distributions of three gene polymorphism locus of CYP1B1 have a certain correlation with risk of ICP,mutant genotypes increase the risk of ICP.