Relationship of PD-1 (PDCD1) and PD-L1 (CD274) Single Nucleotide Polymorphisms with Polycystic Ovary Syndrome

• Published in: BioMed research international Vol. 2021; pp. 9596358 - 9
• Main Authors: Han, Rui, Gong, Xiaoyun, Zhu, Yuejie, Liu, Xiaoran, Xia, Yan, Huang, Yuhong, Zhang, Meng, Zhang, Yunian, La, Xiaolin, Ding, Jianbing
• Format: Journal Article
• Language: English
• Published: United States Hindawi 2021; Hindawi Limited
• Subjects: Adult; Alleles; Apoptosis; B7-H1 Antigen - blood; B7-H1 Antigen - genetics; Biomedical research; Body mass index; Cell death; Female; Gene Frequency; Genotype; Genotypes; Genotyping; Haplotypes; Humans; Infertility; Insulin resistance; L1 gene; Linkage Disequilibrium; Loci; Nucleotides; Pathogenesis; PD-1 protein; PD-L1 protein; Polycystic ovary syndrome; Polycystic Ovary Syndrome - blood; Polycystic Ovary Syndrome - genetics; Polymorphism, Single Nucleotide; Programmed Cell Death 1 Receptor - blood; Programmed Cell Death 1 Receptor - genetics; Single-nucleotide polymorphism; Young Adult; China
• ISSN: 2314-6133; 2314-6141
• DOI: 10.1155/2021/9596358

This study is to investigate the relationship of programmed cell death 1 (PD-1; also known as PDCD1) and programmed death-1-ligand 1 (PD-L1; also known as CD274) single nucleotide polymorphisms (SNPs) with polycystic ovary syndrome (PCOS). This study enrolled 330 PCOS patients and 350 matched controls. ELISA was used to detect the PD-1 and PD-L1 levels in serum. SnaPshot genotyping was performed to analyze the PD-1 and PD-L1 genotyping. Linkage disequilibrium and haplotype of TagSNP loci of PD-1 and PD-L1 genes were also detected. The relationship of genotypes and alleles with PCOS was analyzed. The levels of PD-1 and PD-L1 in the serum of PCOS patients were significantly lower than those in the control group (P<0.01). The haplotype TT of PD-1 gene at rs10204525 and rs7421861 loci was significantly lower in the PCOS group than in the control group (P<0.001, OR=0.67, and 95%CI=0.54‐0.84). PD-L1 gene SNP loci rs2282055, rs2890658, rs10125854, and rs702275 had linkage disequilibrium. The haplotypes TAAA, GAAC, GAGC, GCAA, and TCGA of PD-L1 gene SNP loci were significantly higher in PCOS patients than in the control group, whereas haplotypes GAAA, TAAC, TCAA, GCGA, GCAC, and TCGC of PD-L1 gene SNP loci were significantly lower in PCOS patients than in the control group. PD-1 and PD-L1 SNPs may be related to the pathogenesis of PCOS. PD-1 gene SNP loci rs10204525 and rs7421861 and PD-L1 gene SNP loci rs2282055, rs2890658, rs10125854, and rs702275 may be new candidate polymorphic loci for PCOS.