摘要
目的探讨细胞程序性死亡受体-1(PD-1)基因遗传变异与上皮性卵巢癌发病风险的关系。方法用聚合酶连接酶检测反应技术(PCR-LDR)检测分析620例上皮性卵巢癌患者和620名对照妇女PD-1.1 A/G和PD-1.5 C/T两个单核苷酸多态位点的基因型和等位基因频率。结果 PD-1.1 A/G多态的AA、AG、GG 3种基因型频率在病例组和对照组中具有显著差异(P<0.05)。比较AA基因型携带者,AG和GG基因型携带者显著降低上皮性卵巢癌的发病风险(OR=0.71,95%CI=0.54~0.94和OR=0.68,95%CI=0.50~0.94)。病例组中G等位基因频率明显低于对照组(P<0.05)。与A等位基因相比,G等位基因显著降低妇女上皮性卵巢癌的发病风险(OR=0.83,95%CI=0.71~0.97)。PD-1.5 C/T多态C和T等位基因频率在2组间具有统计学意义,病例组中T等位基因频率明显低于对照组(P<0.05)。与C等位基因相比,T等位基因显著降低妇女上皮性卵巢癌的发病风险(OR=0.82,95%CI=0.69~0.98)。结论 PD-1.1 A/G和PD-1.5 C/T两个单核苷酸多态位点可能是中国北方妇女上皮性卵巢癌发病风险的分子标志物。
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.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）.There was no 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 Talleles 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 are potential molecular markers for predicting the risk of epithelial ovarian cancer in Chinese norther women.
出处
《基础医学与临床》
CSCD
2017年第11期1541-1545,共5页
Basic and Clinical Medicine
基金
国家自然科学基金(81541150)
