【作者】 王勇； 易龙； 韩晓冬； 柯路； 邹颖； 吴效科； 侯丽辉； 曹云霞；

【Author】 WANG Yong WU Xiaoke CAO Yunxia YI Long FAN Haijian ZOU Ying QU Junwei.Medical School of Nanjing University,Nanjing 210093,China

【机构】 南京大学医学院组织学与胚胎学教研室； 黑龙江中医药大学附属第一医院妇产科； 安徽医科大学第一附属医院妇产科；

【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的单核苷酸多态性与多囊卵巢综合征(PCOS)发病及生殖激素之间的关系。方法收集 PCOS 患者和非 PCOS 女性的血液标本。记录 PCOS 患者的初潮年龄,身高体重,分离血清并测定生殖激素,分离血液中的淋巴细胞并提取总 DNA,特异引物扩增,限制性酶切(PCR-RFLP),电泳分离,EB 染色。结果 PCOS 病人的 PPAR-γ2(Pro12Pro,Pro12Ala 和 Ala12Ala)基因型分布(分别是0．910,0．090,0)与正常人的分布(分别是0．925,0．068,0．007)无显著差异。PCOS 患者的 PGC—1α (Cly482Gly,Gly482Ser 和 Ser482Ser)基因型分布(分别是0．328,0．402,0．269)与正常人的分布(分别是0．333,0．374,0．293) 无显著差异。BMI、血清总睾酮 T 和其他生殖激素如：PSH,LH,LH/FSH,P 和 E2在 PPAR-γ2和 PGC-1α各基因型之间无显著差异。与其他人种相比,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%)。结论我们认为 PPARγ2 Pro12Ala 和 PGC—1α Gly482Ser 这两种单核苷酸多态性与 PCOS 的发病无相关性。更多还原

【Abstract】 Objective To investigate the polymorphisms of the peroxisome proliferator-activated receptor-γ(Pro12Ala)and its co- activator-1(Gly482Ser)genes in Chinese women with polycysfic 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 poly- morphism of the PPAR-γ2 coactivator(PGC-1α)gene by the polymerase chain reaction-restriction fragment length polymorphism meth- ed.Result(s):In general,Chinese population had lower PPAR-γ2 Ala allele frequency(4.4%),but higher PGC-1α Ser allele fre- quency(34.1%)as compared with other ethnicities.The genotypic distributions of PPAR-γ2(Pro12Pro,Pro12Ala and Ala12Ala)in women with PCOS(0.910,0.090,0,respectively)did not differ from those in controls(0.925,0.068,0.007,respectively).Genotyp- ic distributions of the PGC-1α(Gly482Gly,Gly482Ser and Ser482Ser)gene in women with PCOS(0.328,0.402,0.269,respectively) did not differ from the genotypic distributions in controls(0.333,0.374,0.293,respectively).BMI,total T and other reproductive hor- mones 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 subjects.Conclusion(s):Our data suggests there is no association of PPARγ2 Pro12Ala and PGC-1α Gly482Ser variants with the occurrence of PCOS in Chinese population.更多还原