Genetic Polymorphism Of Cyp17, INS And LHβ Genes In Patients With Polycystic Ovary Syndrome

Objectivechoose the relevant genes, including CYP17 gene (including 34bpMSPa1 polymorphisms site T-C), INS gene (VNTR tandem repeat sequence / 23bp HPhI polymorphisms sites, A-T), LH gene (Trp8Arg, Ile15Thr the two mutation locus on excon 2) as candidate genes,and searching for the possible association between gene polymorphism and PCOSMethodsA total of 55 PCOS patients and 50 women with regIllar menstrual cycles were recruited.polymorphism of genes are detected by using polymerase chain reaction-restriction enzymes cut clips polymorphism technology (RFLP).Allelic and genotypic frequencies were compared between patients and controls, and these results were analyzed in respect to clinical test data.Results1) The prevalence rate of CYP17 genotype AlAl,AlA2,A2A2 were 34.5% ,41.8% ,23.6% in PCOS and 34.0% ,44.0% ,and 22.0% in control group, respectively. The frequencies of CYP17 A1 and A2 alleles were 55.5% ,44.5% in PCOS group and 56 . 0 % , 44 . 0 % in control group ,respectively.Neither the genotype distributions nor the allele frequencies were significantly different between PCOS group and control group.Among 3 genotypes,the FSH LH, LH/FSH levels presents no significant differance in PCOS group (P > 0.05), BMI levels of A1A2 is more significant higher than that of A2A2 and A1A1. (P < 0.05), While TES levels of A1A1 seems the highest ,and that of A2A2 is the lowest,and the statistical difference is significant (P < 0.05).By Logistic regression analysis,we found A2A2 genotype did not increase the risk of PCOS disease.2) No significant differences were observed between the PCOS cases and controls groups either in allele (P = 0.647) or genotype (P=0.903) frequencies of INS-VNTR polymorphism; Regarding anthropometric data ,hormone levels, and HOMA-IR there were no significant differences between INS-VNTR genotypes in the PCOS group, as well as in the non-PCOS group.The Logistic regression analysis TT(III/III) genotype and did not increase the risk of disease PCOS.3) allele TRP and ARG present no statistical difference between the PCOS and N-PCOS groups . The mutation rate of TRP8ARG detected in the PCOS group(6 cases)and control group(4 cases)were 10.9% and 8.0%,relatively,but the diference between the two groups was not statistically significant. The mutation rate of llel5Thr detected in the PCOS group (5cases)and control group(4 cases) were9.1%and 8.0%, relatively.The diference of frequency of mutation was not significant statistically too. There was also no diference found in hormonal levels between the heterozygous and wild type in PCOS group and control group.ConclusionOur data does not support an association between polymorphisms of CYP17, INS ,LH genes and susceptibility to PCOS or related traits in Guangdong .childbearing women.