Associations Between Gene Polymorphisms In Exon 8,9 And 17 Of Insulin Receptor Gene With Polycystic Ovary Syndrome

Objectives To evaluate the associations between polymorphisms in exon 8(rs2059806),9(rs2059807)and 17(rs1799817)of insulin receptor(INSR)genes with polycystic ovary syndrome(PCOS)and the classification of PCOS.Methods Blood samples were extracted from the PCOS subjects(121 cases)and the controls(133 cases)to measure the sex hormone,anti-mullerian hormone,the liver function and the thyroid function.Patients with PCOS underwent the oral glucose tolerance test(OGTT),the insulin release test(INS)and the lipid profile.Whole blood samples for molecular genetic studies were collected in both groups.And through the direct sequencing,we determined genotypes in exon 8(rs2059806),9(rs2059807)and 17(rs1799817)of insulin receptor(INSR)genes in PCOS subjects(121 cases)and controls(133 cases).And genotype frequency and allele frequency were calculated.Results 1 Statistical differences were observed for the BMI,WHR,FSH,LH,T,AMH,ALT,AST,GGT,TSH,T4 between the women with PCOS and controls(P<0.05).2 The frequency of the GG,GA,AA in the exon 8(rs2059806)in PCOS subjects and the controls was(52.07%,69.17%),(35.53%,21.05%)and(12.40%,9.78%).Statistical differences were observed between the tow groups(P=0.016<0.05).The frequency of the allele G,A in PCOS subjects and the controls was(69.83%,79.70%)and(30.17%,20.30%).Statistical differences were observed between the tow groups(P=0.014<0.05).The genotype frequency and allele frequency of exon 9(rs2059807)and 17(rs1799817)of INSR were no statistically significant difference between the two groups(P=0.379>0.05,P=0.849>0.05,P=0.386>0.05,P=0.720>0.05).3 Statistical differences were not significantly observed between the classical and non-classical PCOS.And the frequency of the GG,GA,AA and the frequency of the allele G,A in the exon 8(rs2059806)of insulin receptor(INSR)genes was(P=0.502>0.05,P=0.303>0.05).Statistical differences were observed between the PCOS with metabolic syndrome and without metabolic syndrome.And the frequency of the GG,GA,AA and the frequency of the allele G,A in the exon 8(rs2059806)of insulin receptor(INSR)genes was(P=0.015<0.05,P=0.003<0.05).Conclusions 1 An association of polymorphisms in exon 8(rs2059806)of INSR with PCOS was observed.Polymorphisms in exon 9(rs2059807),17(rs1799817)of INSR gene polymorphisms were not yet been found to be associated with PCOS.2 An association of polymorphisms in exon 8(rs2059806)of INSR with metabolic syndrome in women of PCOS was observed.Allele A was associated with the susceptibility to metabolic syndrome in patients with PCOS.