微粒体环氧化物水解酶基因多态性与中国妇女多囊卵巢综合征易感性

Relationship between susceptibility of polycystic ovary syndrome and gene polymorphism of microsomal epoxide hydrolase in chinese women

目的:探讨微粒体环氧化物水解酶(EPHX)基因多态性与中国妇女多囊卵巢综合征(PCOS)发病易感性的关系。方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析的方法检测115例PCOS病人和89例健康对照者EPHX基因外显子3(Tyr113→His)、外显子4(His139→yArg)基因型分布。结果:PCOS组和对照组基因型分布未见明显异常。两组外显子3和外显子4的基因型分布无统计学差异,P=0.185(exon3)和P=0.205(exon4);单点等位基因的分布也未见显著差别P=0.135(exon3)和P=0.135(exon4)。但对比预测的高、中、低和极低酶活性时发现高酶活性的基因突变相对于其他酶活性在PCOS疾病的发生上可以视为一种保护因素(OR=0.605,CI=0.158～2.324)。结论:由于基因变异导致的EPHX高活性基因型可能在多囊卵巢综合征的发病中起保护作用。

Objective： To explore the relationship between susceptibility of polycystic ovary syndrome （PCOS） and gene polymor- phism of microsomal epoxide hydrolase （EPHX） in chinese women. Methods： Polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） were performed to detect genotype EPHX polymorphism in exon3 （Tyr113→His） and exon4 （His139→Arg） from 115 PCOS women （case group） and 89 healthy women （control group） . Results： There was no significant difference in the distribution of genotypes in EPHX between case group and control group . Genotype distributions of exon 3 and exon 4 had no significant difference between two groups [ P = 0. 185 （exon3）][ P = 0. 205 （exon4） ] . There was no significant difference in the distribution of single point allele between two groups [ P = 0. 135 （exon3） 3 ][ P = 0. 135 （exon4） ] . There was positive correlation between genie mutation of high - activity EPHX and PCOS （ OR =0. 605, CI = 0. 158 - 2. 324 ） . Conclusion： Genetype of high - activity EPHX induced by genie mutation may play a role in the protection of PCOS.