![]() Briefly, for each PCR reaction, a 20-ng DNA sample was used with 10 μL of 2X Universal Master Mix and 1X assay mix in a total reaction volume of 20 μL (Applied Biosystems, Foster City, CA, USA). Genotyping were performed according to the manufacturer’s protocol. Genotyping was performed using a TaqMan allelic discrimination assay as previously described. The characteristics of each SNP are presented in Table 2. SNPs were acquired from Thermo Fisher Scientific (Thermo Fisher Scientific, Waltham, MA, USA). Several types of cancers and immune diseases have been linked to genetic polymorphisms in the PD-1 and PD-L1 genes. Variations such as SNPs could influence the gene at the transcriptional level. PD-1 overexpression results in the exhaustion of CD8+ leading to a reduced antitumor immune response and hence tumor progression. Programmed death-1-ligand 1 (PD-L1) is highly expressed by tumor cells as an adaptive mechanism to evade host immunosurveillance. ![]() PD-1 is expressed on activated T cells, B cells, NKT cells, and monocytes. ![]() Ligands of PD-1 include PD-L1 (B7-H1) and PD-L2 (B7-DC). The PD-1 gene is located on chromosome 2q37.3 and functions as an immune-inhibitory receptor. PD-1 (also known as PDCD1) is a type I transmembrane glycoprotein which belongs to the CD28 family and is a member of the B7-CD28 superfamily. Haplotype analysis showed that the rs10204525, rs2227981, rs2227982 A-A-G haplotype was associated with a significantly increased risk of CRC (OR = 6.79 p =0.031).Ĭheckpoint programmed death-1 (PD-1)/programmed cell death ligands (PD-Ls) have been identified as immunosuppressive molecules implicated in the immune evasion of transformed cells. A weak protective effect was found for the rs2227981 GG genotype (OR = 2.52 p = 0.034), and no significant association was found between the rs2227982 and CRC. In addition, the PD-1 rs10204525 AA homozygote genotype was associated with a high risk of developing CRC in the codominant (OR = 21.65 p = 0.0014), recessive (OR = 10.97 p = 0.0015), and additive (OR = 1.98 p = 0.012) models. We found that the PD-1 rs10204525 A allele was associated with an increased risk of developing CRC (OR = 2.35 p = 0.00657). Moreover, PD-1 gene expression levels were evaluated using quantitative real-time PCR in colon cancer tissue and adjacent colon tissues. Associations were estimated using odds ratios (ORs) and 95% confidence intervals (95% CIs) for multiple inheritance models (codominant, dominant, recessive, over-dominant, and log-additive). For this case-control study, the TaqMan assay method was used for genotyping three SNPs in the PD-1 gene in 100 CRC patients and 100 healthy controls. In this study, we aimed to assess the association between single nucleotide polymorphisms (SNP) of PD-1 and the risk of colorectal cancer (CRC) in the Saudi population. It is highly expressed in tumor cells in order to evade host immunosurveillance. Checkpoint programmed death-1 (PD-1) has been identified as an immunosuppressive molecule implicated in the immune evasion of transformed cells.
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