CYP19基因多态性与PCOS发病相关性

Polymorphism of CYP19 gene and polycystic ovary syndrome risk

目的研究芳香化酶基因(C YP19)第4内含子△3(TTTA)n微卫星多态性与多囊卵巢综合征(PCOS)发病、PCOS患者体重指数(BMI)和血清生殖激素之间的关系。方法收集PCOS和非PCOS人群的血液标本。记录临床数据并检测血清中的生殖激素。采用Chelex-100提取法从180例PCOS患者和127名非PCOS对照者的外周血标本中提取DNA。特异引物聚合酶链反应,产物经6%变性聚丙烯酰胺凝胶电泳分离,银染检测。结果正常对照和PCOS患者之间的△3(TTTA)n频率分布差异无统计学意义。二者均没有(TTTA)9。PCOS患者中各基因型个体之间的BMI和血清生殖激素差异无统计学意义。结论C YP19基因第4内含子的多态性与PCOS发病之间没有直接相关性,PCOS的雄激素升高不是其代谢下降,而是合成过多;同时C YP19基因第4内含子的多态性对PCOS患者的BMI和生殖激素也无影响。

Objective To investigate the association of the A3（TTTA）7 short tandem repeat polymorphism in intron 4 of the aromatase （CYP19） gene and the risk of polycystic ovary syndrome （PCOS）. Methods Menarche age was recorded. Body mass indices were calculated. Blood samples were obtained for hormone measurements. Total DNA was extracted by Chelex-100 from blood samples. Allele frequencies for the CYP 19 A3（TTTA）n allele were established from the total DNA using locus-specific prime PCR, followed by electrophoresis of PCR products in denaturing polyacryamide gels and subsequent detection by silver staining. Results Five different alleles containing 7-3 （ △ ）, 7, 8, 10, 11, 12 and 13-TTTA-repeats were detected. All allele frequencies were no significative different between the PCADS women and controls. No differences were observed in BMI and serum reproductive hormone levels among individuals with different genotypic features in PCOS. Conclusion Lack of strong association suggested that the polymorphic △ （TTTA）n short tandem repeat of CYP 19 gene may not relate to the risk of PCOS.