The Role Of Gene Polymorphism In The Pathogenesis Of Polycystic Ovary Syndrome

Part I The association between the insulin gene polymorphism and polycystic ovary syndromeObjective To investigate the association of the insulin gene polymorphism and the risk of PCOS.Methods 1. Total testosterone (T) levels, FSH, LH, E2 and PRL levels in the sera of most patients were determined by chemoluminescence immunifaction. 2. Total DNA was extracted by Chelex-100 from blood samples of 216 PCOS women and 192 normal women (controls).3. INS gene -23/HphI polymorphism was detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) analysis.Results 1.In general, Chinese population had lower INS T allele frequency (7.3%) as compared with other ethnicities. 2.The genotypic distributions of INS(AA, AT,TT) in women with PCOS (0.894,0.097,0.009, respectively) did not differ from those in controls (0.859, 0.135, 0.005, respectively).3. The BMI and FSH,LH,LH/FSH,T levels in serum of PCOS patients were obviously higher than that of controls . 4.There were no significantly differences of menarche age,BMI and FSH,LH,LH/FSH,E2,PRL levels in serum between the patients with different genotype in INS 23/HphI polymorphism except for the T level in serum. The T levels of samples with A/T genotype were obviously higher than that in other patients in PCOS group, but in control there were no significantly differences of BMI and reproductive hormone levels between the patients with all kinds of genotypes.Conclusions Our data suggests there is no association of INS -23/HphI polymorphism with PCOS in Chinese women. But the expression of the A/T allelethe probably has an effect on the level of testosterone.Part II Microsatellite polymorphism in the insulin receptor gene in Chinese women with polycystic ovary syndromeObjective To investigate the association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome.Methods 1.Total testosterone (T) levels, FSH, LH, E2 and PRL levels in the sera of most patients were determined by chemoluminescence immunifaction. 2. Total DNA was extracted by Chelex-100 from blood samples of 155 PCOS women and 77 normal women (controls). 3. Allele frequencies for the D19S884 marker allele at the insulin receptor gene locus were established from the total DNA using locus-specific prime PCR, followed by electrophoresis of PCR products in denaturing polyacryamide gels and subsequent detection by silver staining.Results There were no significantly differences of the D19S884 marker allele distribution of INSR between women with PCOS and controls. There were no significantly differences of menarche age,BMI and T,LH,LH/FSH,E2,PRL levels in serum between the patients with different D19S884 marker allele of INSR except for the FSH level. The FSH levels of samples with 238 allele of D19S884 marker were obviously higher than that in other patients in PCOS group.Conclusions Our data suggest the D19S884 marker variant at the insulin receptor gene locus don't play a important role of in the pathogenesis of Chinese women with PCOS.