Replication study of RAD54B and GREB1 polymorphisms and risk of PCOS in Han Chinese

摘要: 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 to evaluate RAD54B and GREB1 in Han Chinese population. Four single-nucleotide polymorphisms (SNP), rs2930961 ( ), rs12470971, rs11686574 rs6740248 were genotyped 1124 PCOS patients 1067 healthy controls from Real-time quantitative PCR by TaqMan-MGB probe assay applied genotyping. The allele genotype frequencies these four SNP not significantly different cohort. However, minor frequency hyperandrogenism PCOS. After meta-analysis combining results two studies, there non-significant trend ) gene may be associated Nevertheless, contribute patients. Polycystic is heterogeneous endocrinopathy. Contribution genetic factors development disease now widely accepted. To discover new candidate genes, based on previously published (GWAS), conducted. genes RAD54 homologue B growth regulation oestrogen breast cancer 1 which are important meiotic mitotic recombination hormone signal target found GWAS. this confirmed current study. Genotype–phenotype analysis shows This finding provides insight GWAS data related