title: Replication study of RAD54B and GREB1 polymorphisms and risk of PCOS in Han Chinese.
abstract: A previous genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) identified several susceptibility loci, with P-values about 10⁻⁵. In the present study, an independent cohort was used for a replication study to evaluate the association of RAD54B and GREB1 with polycystic ovary syndrome (PCOS) in the Han Chinese population. Four single-nucleotide polymorphisms (SNP), rs2930961 (RAD54B), rs12470971, rs11686574 and rs6740248 (GREB1), were genotyped in 1124 PCOS patients and 1067 healthy controls from the Han Chinese population. Real-time quantitative PCR by TaqMan-MGB probe assay was applied for genotyping. The allele and genotype frequencies of these four SNP were not significantly different in the replication cohort. However, the minor allele frequency of rs2930961 was significantly different in hyperandrogenism of PCOS. After meta-analysis by combining the results of these two studies, there was a non-significant trend for the association of rs2930961 (RAD54B) with PCOS. RAD54B and GREB1 gene polymorphisms may not be associated with PCOS in the Han Chinese population. Nevertheless, RAD54B may contribute to hyperandrogenism in PCOS patients.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Zhenyan
authors.initials: Z
authors.lastname: Wang
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Xiuye
authors.initials: X
authors.lastname: Xing
authors.forename: Xuan
authors.initials: X
authors.lastname: Gao
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: You
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.forename: Jinlong
authors.initials: J
authors.lastname: Ma
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D015331:Cohort Studies; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C416830:GREB1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C491221:RAD54B protein, human; D004265:DNA Helicases
keywords: GWAS; Growth Regulation by oestrogen in Breast cancer 1; RAD54 homologue B; association study; polycystic ovary syndrome