关键词: PD-1基因，遗传变异，上皮性卵巢癌，发病风险

Abstract: Objective: To evaluate the effect of PD-1 gene polymorphisms on the risk of developing epithelial ovarian cancer (EOC) and patients’ outcomes. Methods: A case–control study was performed in 620 EOC patients and 620 control women. The genotype and allele frequencies of PD-1.1 A/G and PD-1.5 C/T polymorphisms were determined using the polymerase chain reaction/ligase detection reaction (PCR-LDR) method using the polymerase chain reaction/ligase detection reaction (PCR-LDR) method. Results: There were significant differences in the genotype and allele distribution frequencies of the PD-1.1 A/G between cases and controls (P=0.028 and P=0.02, respectively). Compared with the AA genotype, AG and GG genotypes may significantly decrease the risk of developing EOC (OR=0.71, 95%CI=0.54–0.94; OR=0.68, 95%CI=0.50–0.94, respectively). We did not find a significant difference in the genotype distribution frequency of the PD-1.5 C/T between cases and controls (P=0.096), but the frequency of T alleles was significantly lower in the EOC cases than that in the controls (P=0.033). Compared to the carriers with C alleles, the carriers with T alleles were at a significantly decreased risk of developing EOC (OR=0.82, 95%CI=0.69–0.98). Conclusions: PD-1.1 A/G and PD-1.5 C/T polymorphisms may be potential molecular marker for predicting the risk of epithelial ovarian cancer in Chinese norther women.

Key words: PD-1 gene, genetic variant, epithelial ovarian cancer, risk