Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830011 Xinjiang, China.
Department of Immunology, College of Basic Medicine, Xinjiang Medical University, Urumqi, 830011 Xinjiang, China.
Biomed Res Int. 2021 Jan 4;2021:9596358. doi: 10.1155/2021/9596358. eCollection 2021.
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 ( < 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 ( < 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.
这项研究旨在探讨程序性细胞死亡 1（PD-1；也称为 PDCD1）和程序性死亡配体 1（PD-L1；也称为 CD274）单核苷酸多态性（SNP）与多囊卵巢综合征（PCOS）的关系。本研究纳入了 330 例 PCOS 患者和 350 例匹配对照。采用 ELISA 法检测血清中 PD-1 和 PD-L1 水平。采用 SnaPshot 基因分型法分析 PD-1 和 PD-L1 基因分型。还检测了 PD-1 和 PD-L1 基因 TagSNP 位点的连锁不平衡和单倍型。分析了基因型和等位基因与 PCOS 的关系。PCOS 患者血清中 PD-1 和 PD-L1 水平明显低于对照组（<0.01）。PD-1 基因 rs10204525 和 rs7421861 位点 TT 单倍型在 PCOS 组明显低于对照组（<0.001，OR=0.67，95%CI=0.54-0.84）。PD-L1 基因 SNP 位点 rs2282055、rs2890658、rs10125854 和 rs702275 存在连锁不平衡。PD-L1 基因 SNP 位点 TAAA、GAAC、GAGC、GCAA 和 TCGA 单倍型在 PCOS 患者中明显高于对照组，而 PD-L1 基因 SNP 位点 GAAA、TAAC、TCAA、GCGA、GCAC 和 TCGC 单倍型在 PCOS 患者中明显低于对照组。PD-1 和 PD-L1 SNP 可能与 PCOS 的发病机制有关。PD-1 基因 SNP 位点 rs10204525 和 rs7421861 以及 PD-L1 基因 SNP 位点 rs2282055、rs2890658、rs10125854 和 rs702275 可能是 PCOS 的新候选多态性位点。
