CYP1A1 MspI多态性及其合并GSTM1基因缺失与子宫内膜异位症的关系

目的:探讨新疆维吾尔族、汉族人群中解毒酶细胞色素P4501A1(CYP1A1)基因MspI多态性、CYP1A1/MspI合并GSTM1基因缺失基因型与子宫内膜异位症(内异症)的关系。方法:用聚合酶链反应限制性片段长度多态性技术,检测维吾尔族107例正常妇女与41例内异症患者、汉族105例正常妇女与80例内异症患者CYP1A1基因限制性内切酶MspI位点的3种基因型的分布频率。结果:CYP1A1基因MspI位点基因型在维吾尔族正常对照组的分布频率为TT(48.6%)、TC(42.9%)、CC(8.5%),等位基因分布频率为T(70.1%)、C(29.9%),内异症组的基因型分布频率为TT(39.1%)、TC(46.3%)、CC(14.6%),等位基因分布频率为T(62.2%)、C(37.8%),差异无显著性(P>0.05);在汉族正常对照组基因型分布频率为TT(41.9%)、TC(46.7%)、CC(11.4%),等位基因分布频率为T(65.2%)、C(34.8%),内异症组基因型分布频率为TT(42.5%)、TC(51.2%)、CC(6.3%),等位基因分布频率为T(68.1%)、C(31.9%),差异无显著性。两个民族对照组之间与内异症组之间基因型频率与等位基因频率比较差异无显著性。在CYP1A1/MspI合并GSTM1(/)基因型的人群中,维吾尔族对照组与内异症组的基因型频率与等位基因频率分布比较均有显著差异(P<0.05),其TC+CC与TT比较,OR值为3.556(P<0.05)。汉族对照组与内异症组的比较无统计学差异。结论:解毒酶CYP1A1基因MspI多态性本身可能与维吾尔族及汉族内异症发病无关,而CYP1A1/MspI合并GSTM1(/)基因型可能与维吾尔族内异症发病有关。

Relationship between endometriosis and MspI polymorphisms of cytochrome P4501A1(CYP1A1) gene or CYP1A1 MspI-GSTM1 null genotypes combined

Objective:To explore the association between endometriosis and MspI polymorphisms of cytochrome P4501A1(CYP1A1) gene or CYP1A1 MspI-GSTM1 null genotypes combined of Uygars and Hans in Xinjiang.Methods:Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was employed to analyze the 3 genotypes of MspI polymorphisms of CYP1A1 gene in Uygars (41 cases and 107 controls) and Hans(80 cases and 105 controls) in Xinjiang.Results:The frequencies of genotypes TT,TC,CC and two alleles T,C in controls of Uygars (48.6%,42.9%,8.5%,70.1%,29.9%) were not significantly different from those in patients with endometriosis(39.1%,46.3%,14.6%,62.2%,37.8%).The frequencies of genotypes TT,TC,CC and two alleles T,C in controls of Hans(41.9%,46.7%,11.4%,65.2%,34.8%) were not significantly different from those in patients with endometriosis(42.5%,51.2%,6.3%,68.1%,31.9%) either.When Uygars with Hans wene compared,no statistically significant differences were observed in the frequencies of genotypes and alleles of controls and those of cases.In the population with CYP1A1 MspI-GSTM1 null genotypes combined,statistically significant differences were observed in the frequencies of the three genotypes and two alleles between cases and controls in Uygars(TC+CC vs TT,OR=3.556,P<0.05),but not in Hans.Conclusion:MspI polymorphisms of cytochrome P4501A1 in itself may not be associated with endometriosis in Uygars and Hans in Xinjiang,but CYP1A1 MspI-GSTM1 null genotypes combined may act as a risk factor in the development of endometriosis of Uygars.