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Abstract：
Previous studies showed an association between single nucleotide gene variants (SNVs) of PD-1 and cancer susceptibility. We analyzed PD1.5 C > T and PD1.7 T > C SNVs to investigate their association with the risk of developing metastatic melanoma (MM). Utilizing a cohort of 125 MM patients treated with anti-PD-1 agents and 84 healthy controls, we examined genotype/allele frequencies through a modified Poisson regression model, adjusted for age and sex. Our findings indicate that the PD1.5 T allele is associated with a reduced risk of MM, showing a significantly lower risk in both codominant (RR = 0.56, 95%CL: 0.37-0.87) and dominant (RR = 0.73 95%CL: 0.59-0.90) models. Conversely, the PD1.7 C allele is linked to an increased risk of MM, with the C/C genotype exhibiting a higher risk in the codominant (RR = 1.65, 95%CL: 1.32-2.05) and allelic (RR = 1.23, 95%CL: 1.06-1.43) models. These results are consistent with previous meta-analyses on other cancer types, mainly highlighting the PD1.5 SNV\'s potential role in promoting anti-tumor immunity through increased PD1-positive circulating effector T cell activity.
摘要：
先前的研究表明PD-1的单核苷酸基因变体（SNV）与癌症易感性之间存在关联。我们分析了PD1.5C>T和PD1.7T>CSNVs，以研究它们与发展转移性黑色素瘤（MM）风险的关联。利用一组125例接受抗PD-1药物治疗的MM患者和84例健康对照，我们通过改进的泊松回归模型检查了基因型/等位基因频率，根据年龄和性别进行调整。我们的研究结果表明，PD1.5T等位基因与MM的风险降低有关，在优势模型(RR=0.56,95%CL:0.37-0.87)和优势模型(RR=0.7395%CL:0.59-0.90)中显示出显著较低的风险.相反，PD1.7C等位基因与MM的风险增加有关，C/C基因型在显性（RR=1.65，95％CL：1.32-2.05）和等位基因（RR=1.23，95％CL：1.06-1.43）模型中表现出更高的风险。这些结果与以前对其他癌症类型的荟萃分析一致，主要强调PD1.5SNV通过增加PD1阳性循环效应T细胞活性促进抗肿瘤免疫的潜在作用。
