Association Research Among Han Chinese Women With Polycystic Ovary Syndrome

BackgroundPolycystic ovary syndrome (PCOS) is the most common highly heterogeneous endocrine and metabolic disorders puberty and women of childbearing age. Many researches showed the disease was related with multiple genetic abnormalities and a variety of environmental factors. Previous genome-wide association study (GWAS) verified these p values less than10E-6and found some meaningful loci of strong associations with PCOS. The present study was performed to investigate loci with p values less than10E-5in gene RAD54B and GREB1.ObjectiveThe purpose of this study was to determine the relationship between SNPs rs2930961(RAD54B), rs12470971, rs11686574, rs6740248(GREB1) and the pathogenesis of PCOS. Moreover, whether the two genes play a role in endocrine and clinical traits in PCOS patients may provide evidence for a better understanding on the development of PCOS.MethodsFour single nucleotide polymorphisms (SNP) rs2930961(RAD54B) rs12470971, rs11686574, rs6740248(GREB1) were genotyped in1124PCOS patients diagnosed by the Rotterdam PCOS consensus criteria and1067healthy controls from Han Chinese population. DNAs were extracted from the peripheral blood and serum hormone levels were detected including Follicle stimulating hormone(FSH), luteinizing hormone(LH), testosterone(T) and insulin (INS). All PCOS patients underwent a75g oral glucose tolerance test (OGTT). Insulin resistance was estimated by the homeostasis model assessment method(HOMA-IR). The single real--time quantitative PCR was applied for genotyping by TaqMan-MGB probe assay.ResultsAllele and genotype frequencies of these four SNPs were not significantly different in the replication cohort. However, minor allele frequency of rs2930961was significantly different in hyperandrogenism PCOS and there was a tendency for rs2930961(RAD54B) after meta-analysis by combining the results of these two studies (Pmeta=0.052).ConclusionRAD54B and GREB1genes polymorphisms may not be associated with PCOS in Han Chinese population. Nevertheless, RAD54B maybe contribute to hyperandrogenism PCOS patients. BackgroundResearch shows that SNP9p33.3(rs2479106),2p16.3(rs13405728) and2p21(rsl3429458) may have a high degree correlation with the occurrence of PCOS respectively. Whether they are associated with the long-term complication of PCOS, endometrial carcinoma is unknown. Here, we conducted a case-control study comprising96histologically diagnosed incident endometrial cancer cases and192matched non-cancer controls.ObjectiveTo explore the PCOS related SNP rs2479106(in gene DENND1A), rs13405728(in gene LHCGR) and rsl3429458(in gene THADA) in women with endometrial carcinoma.MethodsInformation on current body weight, height and age, and past marital and fertile history was obtained from a self-administered questionnaire. The effects of BMI change were evaluated using an unconditional logistic regression model adjusted for potential confounders. Polymerase chain reaction (PCR) was used to evaluate SNP rs2479106, rs13405728and rs13429458.ResultsThe allele frequencies of SNP rs2479106and rs13405728were significantly different (P<0.05) between endometrial carcinoma group and control group, and the difference was especially significant in the subgroup of endometrioid adenocarcinoma. Genotyping analysis showed that allele G in rs2479106and allele A in rs13405728could confer risk to endomtrioid adenocarcinoma. ConclusionOur results suggest that SNP rs13405728and rs2479106may be associated with endometroid carcinoma.