| Background:Polycystic ovary syndrome(PCOS)is a common heterogeneous endocrine and metabolic disease affected by multiple genetic factors.It is characterized by ovulation dysfunction,high androgen level,ovarian polycystic morphology,hyperinsulinemia and insulin resistance,affecting the reproductive health of women of childbearing age all over the world.The main clinical manifestations of PCOS are irregular menstrual cycles,infertility,hairy and acne.It is also associated with other health problems such as obesity,cardiovascular disease,diabetes and endometrial carcinoma.The etiology of PCOS is not completely clear,but there is evidence that genetic susceptibility is closely related to the occurrence of PCOS.Previous Association studies have identified multiple single nucleotide polymorphisms associated with PCOS susceptibility genes,but there is still no consistent conclusion.The in-depth study of PCOS susceptibility genes and related polymorphic loci can not only provide the theoretical basis for the etiology and pathophysiology of PCOS,but also provide important risk prediction indicators and new drug targets for PCOS in diagnosis and treatment..Methods:The present case-control study used the 2003 Rotterdam standard to diagnose PCOS and included 400 PCOS cases and 480 controls.All the subjects were Han Chinese women.The height,weight,interval of menstrual cycle,basic sex hormone values and diagnosis of all PCOS patients and control participants were recorded.Meanwhile,peripheral blood was collected for genomic DNA extraction.Sanger sequencing was used to analyze the SNP related to FSHR(rs2268361,rs6165,rs6166),LHCGR(rs13405728)and THADA(rs13429458),DENND1A(rs10818854,rs2479106)and INSR(rs2059807,rs1799817).Due to the large heterogeneity and genetic racial differences of PCOS,this study collected the research literature on the Association between the above SNP and PCOS susceptibility in Asia,and conducted Meta-analysis together with the results of this study in order to improve the statistical strength and to evaluate the Association between SNP and PCOS susceptibility more comprehensively and accurately in Asian population.Results:1.Compared with the control group,the PCOS group had longer menstrual cycle,higher BMI,higher prolactin,testosterone bLH and bLH/bFSH levels in clinical characteristics,which were statistically significant;2.The allele frequencies of all SNP in the control group accorded with Hardy-Weinberg equilibrium;3.The rs13405728,rs13429458 and rs2059807 were significantly correlated with PCOS susceptibility;rs2479106,rs10818854,rs2268361,rs6165,rs6166 and rs1799817 were not significantly correlated with PCOS susceptibility;4.The rs 13405728 was significantly correlated with the interval of menstrual cycle and OA subtype;rs134294585.was significantly correlated with HA subtype;rs2059807 was significantly correlated with OA subtype;rs1799817 was significantly correlated with BMI;5.A total of 38 literatures were adopted,and no studies with low quality and obvious heterogeneity were included in this meta-analysis.The results of meta-analysis showed that rs13405728,rs13429458,rs2479106 and rs10818854 were significantly correlated with PCOS susceptibility in Asian population.Subgroup analysis showed that,rs13405728,rs13429458,rs2479106,rs10818854,rs2059807 and rs 1799817 were significantly correlated with PCOS susceptibility in Chinese population;rs6166 was significantly associated with PCOS susceptibility in Korean population.Conclusion:The rs6166,rs13405728,rs13429458,rs2479106,rs10818854,rs2059807,and rs1799817 may indeed be the genetic risk factors for PCOS in Asian population.Among them,rs13405728,rs13429458,rs2059807 and rs 1799817 may be related to some PCOS phenotypes and subtypes.More SNP related to PCOS susceptibility genes still need to be studied using larger independent sets of samples in different ethnic populations to provide genetic basis for exploring the pathogenesis of PCOS. |
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