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  

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

作　　者：柯路[1] 王勇[1] 吴效科[2] 曹云霞[3] 易龙[1] 邹颖[1] 侯丽辉[2] 

机构地区：[1]南京大学医学院组织学与胚胎学教研室,南京210093 [2]黑龙江中医药大学附属第一医院妇产科,哈尔滨150040 [3]安徽医科大学第一附属医院妇产科,合肥230022

出　　处：《生殖医学杂志》2007年第4期236-241,共6页Journal of Reproductive Medicine

基　　金：国家自然科学基金(30672228/30572404/30571954)

摘　　要：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。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-T2 （PPAR-γ2） gene and the Gly482Ser polymorphism of the PPAR-γ2 coactivator striction fragment length polymorphism method. （PGC-1α） gene by the polymerase chain reaction-restriction fragment length polymorphism metho.Results. In general, Chinese population had lower PPAR-γ2 Ala allele frequency （4.4%）, but higher PGC-la Ser allele frequency （34.1%） as compared with other ethnicities. The genotypic distributions of PPAR-γ2 （Prol2Pro, Prol2Ala and Alal2Ala） 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 PPAR72 Prol2Ala and PGC-1α Gly482Ser variants with the occurrence of PCOS in Chinese population.

关 键 词：多囊卵巢综合征 过氧化物酶体增殖物激活受体-Γ 过氧化物酶体增殖物激活受体-γ类激活蛋白1α 单核苷酸多态性 

分 类 号：R392.2[医药卫生—免疫学]