过氧化物酶体增殖物激活受体-γ及其共激活蛋白1的单核苷酸多态性与多囊卵巢综合征表型的关系

目的研究过氧化物酶体增殖物激活受体-γ2(PPAR-γ2)和过氧化物酶体增殖物激活受体-γ共激活蛋白1(PGC-1)α的单核苷酸多态性与多囊卵巢综合征(PCOS)发病及生殖激素的关系。方法收集PCOS患者和非PCOS妇女正常对照的血液标本。记录两组的初潮年龄,身高、体重,分离血清测定生殖激素,分离血液中的淋巴细胞提取总DNA,特异引物扩增后限制性酶切(PCR-RFLP),电泳分离,溴化乙锭(EB)染色。结果PCOS患者的PPAR-γ2(Pro12Pro,Pro12Ala和Ala12Ala)基因型分布(分别为0.910,0.090,0)与正常人的分布(分别为0.925,0.068,0.007)无显著差异。PCOS患者的PGC-1α(Gly482Gly,Gly482Ser和Ser482Ser)基因型分布(分别为0.328,0.402,0.269)与正常人的分布(分别为0.333,0.374,0.293)无显著差异。体重指数(BMI)、血清总睾酮(T)和卵泡刺激素(FSH)、黄体生成素(LH)、LH/FSH、孕酮(P)和雌二醇(E2)在PPAR-γ2和PGC-1α各基因型之间无显著差异。与其他人种比较,中国人PPAR-γ2中Ala等位基因频率较低(4.4%),但PGC-1α的频率较高(48%)。结论结果提示PPARγ2 Pro12Ala和PGC-1αGly482Ser这两种单核苷酸多态性与PCOS的发病无相关性。

Polymorphisms of the peroxisome proliferator-activated receptor-γ and its coactivator-1 genes in Chinese women with polycystic ovary syndrome

Objective: To investigate the polymorphisms of the peroxisome proliferator-activated receptor-γ(Pro12Ala) and its coactivator-1(Gly482Ser) genes in Chinese women with polycystic ovary syndrome(PCOS).Methods: Menarche age was recorded.Body mass indices(BMI) were calculated.Blood samples were obtained for single nucleotide polymorphism analyses and hormone measurements.Genotyping of the Pro12Ala polymorphism of peroxisome proliferator-activated receptor-γ2(PPAR-γ2) gene and the Gly482Ser polymorphism of the PPAR-γ2 coactivator(PGC-1α) gene by the polymerase chain reaction-restriction fragment length polymorphism method.Results: In general,Chinese population had lower PPAR-γ2 Ala allele frequency(4.4%),but higher PGC-1α Ser allele frequency(34.1%) as compared with other ethnicities.The genotypic distributions of PPAR-γ2(Pro12Pro,Pro12Ala and Ala12Ala) in women with PCOS(0.910,0.090,and 0,respectively) did not differ from those in controls(0.925,0.068,and 0.007,respectively).Genotypic distributions of the PGC-1α(Gly482Gly,Gly482Ser and Ser482Ser) gene in women with PCOS(0.328,0.402,and 0.269,respectively) did not differ from the genotypic distributions in controls(0.333,0.374,and 0.293,respectively).BMI,total testosterone and other reproductive hormones such as FSH,LH,LH/FSH,P and E2 were also similar between the different genotypes of both PPAR-γ2 and PGC-1α gene in the PCOS patients.Conclusion: Our data suggest there is no association of PPARγ2 Pro12Ala and PGC-1α Gly482Ser variants with the occurrence of PCOS in Chinese population.