Studies Of The Association Between The Susceptibility Of Polycystic Ovarian Syndrome And PD-1 Gene,PD-L1 Gene Polymorphism

Objective: This study is to investigate the association of PD-1 gene and PD-L1 gene single nucleotide polymorphism(SNP)with polycystic ovary syndrome(PCOS)in Xinjiang region.Method: Options in Xinjiang medical university first affiliated hospital of department of gynaecology and reproductive assisted reproduction center of PCOS patients 336 cases(PCOS group),and the control group 345 cases healthy women of reproductive age(HC group)with PCOS patient age and body mass index,met inclusion and exclusion criteria: 1)The clinical indicators of PCOS for the research object in basic condition were measured: waist-to-hip ratio,body mass index,sex hormone,fasting glucose and fasting insulin levels;2)By ELISA method to detect the serum of PD-1 and PD-L1 content,comparative analysis of their differences in the PCOS group and the HC group;3)Using the Snapshot classification technology to screening out the PD-1 and PD-L1 gene TagSNPs loci tested for genotyping,and an analysis of the linkage disequilibrium and haplotype,the relevance of between genotypes,alleles change and the pathogenesis of PCOS.Result: 1)The T,LH,LH/FSH,FBG,FNS and HOMA-IR is significantly higher in PCOS group than HC group(P<0.05);2)The serum content of PD-1 in PCOS group is lower than in HC group,and the serum content of PD-L1 in PCOS group is lower than in the HC group(P<0.05);3)In the PCOS group and in the HC group the PD-1 gene and the PD-L1 gene distribution,the observed values and the expected value of the genotype were met with the Hardy-Weinberg genetic equilibrium law,the anastomosis is good(P>0.05);4)The TT genotype frequency of PD-1 gene SNP loci rs7421861 is lower in the PCOS group than the HC group(P=0.040),and C allele frequency is higher in PCOS group than HC group(P=0.045);5)The CC genotype frequency of PD-1 gene SNP loci rs10204525 is higher in PCOS group than HC group(P=0.019).and C allele frequency is higher in PCOS group than the HC group(P=0.039);6)The CC genotype frequency of PD-L1 gene SNP loci rs2282055 is lower in PCOS group than HC group(P=0.010),AA genotype frequency is higher in PCOS group than the HC group(P=0.001),and A allele frequency is higher in PCOS group than the HC group(P=0.001);7)The C allele frequency of PD-L1 gene SNP loci rs2890658 is lower in the PCOS group than HC group(P=0.045);8)The GG genotype frequency of PD-L1 gene SNP loci rs702275 is higher in PCOS group than HC group(P=0.012),and G allele frequency is higher in PCOS group than the HC group(P=0.010);9)The AA genotype frequency of PD-L1 gene SNP loci rs10125854 is lower in PCOS group than HC group(P=0.023),AG genotype frequency is higher in PCOS group than HC group(P=0.046),and G allele frequency is higher in PCOS group than the HC group(P=0.026);10)The haplotype analysis showed that the haplotype frequencies of TT is significantly lower in PCOS group than HC group(P=0.000);11)The haplotype frequency of GAAA is lower in PCOS group than HC group(P=0.000).haplotype frequency of TAAA is higher in PCOS group than HC group(P=0.000).haplotype frequency of GAAC is higher in PCOS group than HC group(P=0.000).haplotype frequency of TAAC is significantly lower in PCOS group than the HC group(P=0.000).haplotype frequency of GAGC is higher in PCOS group than HC group(P=0.002).Haplotype frequency of GCAA is higher in PCOS group than HC group(P=0.001).haplotype frequency of TCAA is significantly lower in PCOS group than the HC group(P=0.000).haplotype frequency of GCGA is significantly lower in PCOS group than the HC group(P=0.000).Haplotype frequency of TCGA is higher in PCOS group than HC group(P=0.000).haplotype frequency of GCAC is lower in PCOS group than the HC group(P=0.001).haplotype frequency of TCGC is significantly lower in PCOS group than the HC group(P=0.000).Conclusion: 1)Lower expression characterized of PD-1 and PD-L1 in serum of PCOS patients,may participate in the development of PCOS;2)C allele of PD-1 gene SNP loci rs7421861,CC genotype and C allele of PD-1 gene SNP loci rs10204525,AA genotype and A allele of PD-L1 gene SNP loci rs2282055,GG genotype and G allele of PD-L1 gene SNP loci rs702275,AG genotype and G allele of PD-L1 gene SNP loci rs10125854 may be the Susceptibility factor for PCOS,but the C allele of PD-L1 gene SNP loci rs2890658 may be protective factors for PCOS disease;3)Further studies have found that the haplotype TAAA,GAGC,GAAC,GCAA and TCGA may be the Susceptibility factor for PCOS,haplotype TT and GAAA,TAAC,TCAA,GCGA,GCAC and TCGC may be protective factors for PCOS disease.prompt the PD-1 and PD-L1 gene polymorphism may be associated with PCOS.PD-1 gene SNP loci rs7421861,rs10204525 and PD-L1 gene SNP loci rs2282055,rs2890658,rs10125854,rs702275 may be a new candidate gene polymorphism loci of PCOS.