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目的探讨ABCB4基因c.175C>T(rs2302387)、c.504T>C(rs1202283)和c.711A>T(rs2109505)单核苷酸多态性与河南地区妊娠期肝内胆汁淤积症(ICP)发病易感性的关系。方法选取2012年4月-2014年11月该院收治的ICP患者54例(ICP组)和正常妊娠者100例(对照组)为研究对象。收集其外周血并提取基因组DNA,采用PCR产物直接测序法分析ABCB4基因c.175C>T、c.504T>C和c.711A>T单核苷酸多态性的分布情况,并与ICP发病率进行关联性分析。结果 c.175C>T多态性在ICP组和对照组中的突变频率分别为26.9%和19.5%(P>0.05),GG、GA、AA 3种基因型频率分别为55.6%、35.7%、9.3%和65.0%、31.0%、4.0%(P>0.05);c.504C>T多态性在ICP组和对照组中的突变频率分别为38.9%和29.5%(P>0.05),GG、GA、AA 3种基因型频率分别为35.1%、51.9%、13.0%和51.0%、39.0%、10.0%(P>0.05);c.711A>T多态性在ICP组和对照组中的突变频率分别为25.0%和18.5%(P>0.05),TT、TA、AA 3种基因型频率分别为55.6%、38.9%、5.6%和67.0%、29.0%、4.0%(P>0.05)。结论 ABCB4基因c.175C>T、c.504T>C和c.711A>T单核苷酸多态性与河南地区ICP发病易感性无关联性。
Objective To investigate the relationship between ABCB4 gene polymorphisms of c.175C> T (rs2302387), c.504T> C (rs1202283) and c.711A> T (rs2109505) and intrahepatic cholestasis of pregnancy (ICP) Susceptibility to the relationship. METHODS: From April 2012 to November 2014, 54 ICP patients (ICP group) and 100 normal pregnancy patients (control group) were enrolled in this study. The peripheral blood was collected and genomic DNA was extracted. The distribution of c.175C> T, c.504T> C and c.711A> T ABCB polymorphisms of ABCB4 gene was analyzed by direct sequencing of PCR products. Rate of correlation analysis. Results The frequencies of c.175C> T polymorphism in ICP group and control group were 26.9% and 19.5% respectively (P> 0.05). The genotype frequencies of GG, GA and AA were 55.6% and 35.7% The frequencies of c.504C> T polymorphism in ICP group and control group were 38.9% and 29.5% respectively (P> 0.05). The frequencies of GG, The genotype frequency of GA and AA were 35.1%, 51.9%, 13.0% and 51.0%, 39.0% and 10.0% respectively (P> 0.05). The mutation of c.711A> T polymorphism in ICP group and control group The frequencies of TT, TA and AA were 55.6%, 38.9%, 5.6% and 67.0%, 29.0% and 4.0%, respectively (P> 0.05). Conclusion ABCB4 gene c.175C> T, c.504T> C and c.711A> T SNPs were not associated with susceptibility to ICP in Henan Province.