Relationship of PD‐1 (PDCD1) and PD‐L1 (CD274) Single Nucleotide Polymorphisms with Polycystic Ovary Syndrome
Rui Han, Xiaoyun Gong, Yuejie Zhu, Xiaoran Liu, Yan Xia, Yu‐Hong Huang, Meng Zhang, Yunian Zhang, Xiaolin La, Jianbing Ding
Abstract
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.