CYP17基因单核苷酸多态与子宫内膜异位症和子宫腺肌病易感性的关系

目的探讨CYP17基因T-C单核苷酸多态与子宫内膜异位症(内异症)和子宫腺肌病(腺肌病)易感性的关系。方法蛋白酶K消化-饱和酚氯仿法提取外周血白细胞基因组DNA,聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对61例内异症(内异症组)、59例腺肌病(腺肌病组)和65例健康女性(对照组)进行基因分型。结果①内异症组和腺肌病组A1A1基因型频率及A1等位基因频率均高于对照组,差异均有统计学意义;内异症组与腺肌病组之间差异均无统计学意义。②A1A1和A1A2基因型个体发生内异症的相对危险度(OR)分别是A2A2型个体的4.615倍(1.704-12.504,P=0.002)和3.467倍(1.339-8.977,P=0.009),发生腺肌病的相对危险度分别是A2A2型个体的3.692倍(1.337-10.196,P=0.010)和3.867倍(1.505-9.933,P=0.004),差异均有统计学意义。结论 A1A1、A1A2基因型增加内异症和腺肌病的易感性,A1等位基因可能是内异症和腺肌病的遗传易感基因,内异症和腺肌病发病机理相似。

Relationship between gene polymorphism of CYP17 and the susceptibility of endometriosis and adenomyosis

Objective To study the relationship between gene polymorphism of CYP17 and the susceptibility of endometriosis and adenomyosis.Methods PCR-RFLP was used to analyze the polymorphism of CYP17 gene in 61 patients with endometriosis（EMs） and 59 with adenomyosis（Ad） and 65 healthy controls.Results There was no significant difference of the alleles and genotypes between endometriosis and adenomyosis.The frequencies of A1A1 genotype,A1A2 genotype and A1 allele were significantly higher in EMs and Ad groups than them in control group respectively.The relative risk suffered from endometriosis of A1A1 and A1A2 genotype was 4.615 and 3.467 times of the A2A2 genotype respectively,and that suffered from adenomyosis was 3.692 and 3.867 times of the A2A2 genotype respectively.Conclusion A1A1 and A1A2 genotype can increase the risk of susceptibility of endometriosis and adenomyosis,and A1 allele may be a risk factor for endometriosis and adenomyosis.The pathogenesis of endometriosis and adenomyosis was similar.