purpose:T This study aimed to assess the association between BDNF gene polymorphism and haplotypes with polycystic ovarian syndrome(PCOS). To investigate the genetic background and pathogenesis of polycystic ovary syndromeMethods:328PCOS patients and358healthy controls were selected for the presentstudy. The four SNPs (rs6265ã€rs11030104ã€rs10835210and rs2030324) were detectedby using SNaPshot. Linkage disequilibrium and haplotype analysis were conductedamong the SNPs which turned out to be have a positive association with PCOS. Thenwe studied the relationship between different genotypes and haplotypes and the risk ofPCOS.Results:1.The SNPs of rs6265ã€rs11030104ã€rs10835210and rs2030324are existed amongGuangdong Han women.2.The comparison between two groups of BDNF gene rs6265locus genotype frequency differences between the two groups was statistically significant(P<0.05), AA and AG genotype can increase PCOS risk(OR=1.48,95%CI=1.03-2.14)(OR=1.64,95%CI=1.06-2.54). After adjustment for age and BMI,AA and AG genotype still With the onset of PCOS(OR=1.64,95%CI=1.12-2.24)(OR=1.74,95%CI=1.10-2.76).3. No significant difference was found in rs11466313, rs1800469and rs1800470genotypes between PCOS and control, as well as for the variant allele (P>0.05).4.Genetic disequilibrium analysis showed.that rs6265and rs11030104connectionclose. Further more, rs6265and rs11030104SNPs were enrolled in haplotypeanalysis. the frequency of GGã€AAã€and AG haplotypes were signifcantly different for PCOS patients than for control subjects(P<0.05),and they improve therisk of PCOS(OR=2.25,95%CI=1.47—3.45),(OR=2.36,95%CI=1.54—3.60),(OR=5.11,95%CI=2.61—10.02). After controlling for age and BMI, the GGã€AAã€and AG haplotypes were also associated with PCOS susceptibility(OR=2.23,95%CI=1.45-3.41)ã€ï¼ˆOR=2.33,95%CI=1.52-3.56)ã€ï¼ˆOR=5.05,95%CI=2.58-9.91). Conclusion:1. The SNPs rs6265polymorphism may be a high risk factor of PCOS inGuangdong Han population2. The haplotype GGã€AAã€and AG may be the risk factors of PCOS susceptibilityamong Guangdong Han women.3. Temporarily not found rs11030104ã€rs10835210nd rs2030324loci polymorphismassociated with PCOS. |