吉林市汉族妇女GSTM1基因和CYP1A1基因Exon7位点多态性与 子宫内膜异位症易感性的研究

目的:探讨在吉林地区汉族妇女中细胞色素P450(CYP1A1)基因Exon7位点多态性即Ile-Val位点的多态性及GSTM1基因多态性和子宫内膜异位症易感性的相关关系。方法:以病例对照的研究方法,采用PCR技术检测216例子宫内膜异位症和216例对照人群的CYP1A1基因Ile-Val位点及GSTM1基因多态性的表达。结果:吉林地区汉族人群中GSTM1空白基因型分布频率0.463,内异症人群中空白基因型分布频率0.667,两组差异有统计学意义(P<0.05),空白基因型患内异症的危险是功能基因型的1.896倍;Ile-Val三种多态基因型在内异症组和对照组分布差异有统计学意义(P<0.05),Ile/Val、Val/Val基因型患内异症的危险分别是Ile/Ile基因型的1.901倍和3.056倍;CYP1A1 Ile/Val联合GSTM1空白基因型个体的OR值为3.409(95%C I 1.897~6.125,P<0.01),而CYP1A1Val/Val联合GSTM1空白基因型个体的OR值增高至7.143(95%C I 2.584~19.742,P<0.01)。结论:CYP1A1 Exon7的Ile/Val、Val/Val基因型及GSTM1空白基因型与内异症的易感性有关,二者联合效应具有协同作用,可望作为内异症易感人群筛选的重要指标。

Analysis on the relationship between polymorphism of Exon7 situs in CYP1A1 gene,GSTM1 gene and susceptibility of endometriosis in women of Han nationality in Jilin city

Objective:To explore the relationship between polymorphism of Exon7 situs(Ile-Val situs) in CYP1A1 gene,GSTM1 gene and susceptibility of endometriosis in women of Han nationality in Jilin city.Methods:The expression of polymorphisms of Exon7 situs(IleVal situs) in CYP1A1 gene,GSTM1 gene of 216 cases with endometriosis and 216 healthy women were detected by polymerase chain reaction(PCR).Results:The frequencies of GSTM1-null genotype in endometriosis group and control group of Han nationality were 0.667 and 0.463,respectively,there was significant difference(P<0.05),the risk of GSTM1-null genotype to endometriosis was 1.896 times higher than that of GSTM1+ to endometriosis;there was difference in the distribution frequencies of three genotypes of Ile/Val between control group and endometriosis group(P<0.05);the risk of Ile/Val and Val/Val to endometriosis was 1.901 and 3.056 times higher than that of Ile/ Ile genotype to endometriosis;the OR of CYP1A1 Ile/Val combined with GSTM1 null genotypes was 3.409(95% CI:1.897~6.125,P<0.01),while the OR of CYP1A1 Val/Val combined with GSTM1 null genotypes was 7.143(95% CI 2.584~19.742,P<0.01).Conclusion:Ile/Val and Val/Val genotypes and GSTM1-null genotype are related to the susceptibility of endometriosis,which might be one of the risk factors of endometriosis.