Studies Of The Association Between Polymorphisms Of TGF-β1Gene And The Susceptibility Of Polycystic Ovary Syndrome

Objective: To explore the relationship between the SNP and Haplotype of five geneloci of TGF-β1genes(rs4803457、rs11466313、rs2217130、rs1800469and rs1800470)and polycystic ovary syndrome(PCOS) among Chinese Han Nation women.Methods:328PCOS patients and358healthy controls were selected for the presentstudy. The five SNPs (rs4803457, rs11466313, rs2217130, rs1800469and rs1800470)were detected using PCR and Snapshot. Linkage disequilibrium and haplotypeanalysis were conducted among the SNPs which turned out to be have a positiveassociation with PCOS. Then we studied the relationship between different genotypesand haplotypes and the risk of PCOS.Resμlts:1. The SNPs of rs4803457C/T, rs11466313deletion/AGG, rs2217130C/T,rs1800469C/T and rs1800470C/T existed among Chinese Han women.2. The TT/CT/CC genotype frequencies of rs4803457in PCOS group and controlgroup were0.2805/0.4878/0.2317and0.3659/0.4749/0.1592respectively. The C/Tallele frequencies in PCOS group and control group were0.3813/0.6187and0.3966/0.6034respectively. There were significant differences in genotypedistribution frequencies and allele frequencies between the two groups (P＜0.05),3. The logistic regression result shows that the influence factors of PCOS include age,BMI and the CC genotype of SNP rs4803457. Compared with none CC genotype ofrs4803457, CC genotype has higher risk of PCOS (OR=1.75,95%CI=1.11-2.75). 4. No significant difference was found in rs11466313, rs2217130and rs1800470genotypes between PCOS and control, as well as for the variant allele (P＞0.05),while in rs1800469, there was significant difference in allele frequence (P＜0.05).5. There were linkage disequilibrium between the TGF-β1gene SNPs of rs4803457,rs11466313, rs2217130, rs1800469and rs1800470. Among them, there were strongLD relationship in rs4803457, rs11466313, rs1800469and rs1800470(D’＞0.8,r2＞0.8).6. The haplotype analysis showed that the haplotype frequencies of T-CCC,C-CCCand C-CTC were significantly higher in PCOS group than in control group (P＜0.01).7. The logistic regression result shows that the haplotype T-CTC merged by wild-typealleles was taken as control haplotype, haplotype T-CCC,C-CCC and C-CTC may bea risk factor of PCOS susceptibility.Conclusion:1. The SNPs of rs4803457C/T and rs1800469C/T polymorphism may be associatedwith the susceptibility of PCOS, which may be a potential contributor for thedevelopment of PCOS in Chinese Han women. And temporarily not foundrs11466313, rs2317130and rs1800470loci polymorphism associated with PCOS.2. The CC genotype of rs4803457may be the risk factor of PCOS among ChineseHan women.3. The haplotype T-CCC,C-CCC and C-CTC may be the risk factors of PCOSsusceptibility among Chinese Han women.