PD-1基因多态性与食管癌遗传易感性关联的研究

发布时间：2018-03-24 15:32

本文选题：食管肿瘤　切入点：程序性死亡蛋白　出处：《肿瘤》2017年01期

【摘要】：目的 :探讨程序性细胞死亡蛋白1(programmed cell death 1,PD-1)基因rs36084323 A/G单核苷酸多态性(single nucleotide polymorphism,SNP)以及rs10204525 A/G SNP与河北省磁县高发区人群食管鳞状细胞癌(esophageal squamous cell carcinoma,ESCC)遗传易感性之间的关系。方法 :收集584例ESCC病例和585名对照人群的血液标本,采用聚合酶链反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)法对PD-1基因中rs36084323 A/G SNP和rs10204525 A/G SNP进行基因分型。结果 :ESCC病例组上消化道肿瘤(upper gastrointestinal cancer,UGIC)家族史阳性个体的比例为47.1%,明显高于对照组的38.3%(χ2=9.247,P=0.002)。UGIC家族史与ESCC的发病风险呈正相关[经性别、年龄和吸烟状况校正的比值比(odds ratio,OR)=1.428,95%可信区间(confidence interval,CI)=1.131~1.805]。PD-1基因rs36084323 A/G SNP基因型频率和等位基因频率分布在ESCC病例组及对照组之间差异无统计学意义(P0.05)。ESCC病例组及对照组PD-1基因rs10204525 A/G SNP A/A、A/G、G/G基因型频率分别为55.7%、38.7%、5.6%和50.6%、40.7%、8.7%。与A/A基因型相比,G/G基因型与ESCC的发病风险负相关(经性别、年龄、吸烟状况、UGIC家族史校正的OR=0.516,95%CI=0.361~0.920)。根据性别、年龄、吸烟状况和UGIC家族史进行分层分析发现,G/G基因型与女性、年龄≤60岁、UGIC家族史阳性个体ESCC的发病风险负相关。ESCC病例组G等位基因频率为25.0%,明显低于对照组的29.1%(χ2=4.884,P=0.027)。与A等位基因相比,G等位基因与ESCC的发病风险呈负相关(OR=0.814,95%CI=0.678~0.977)。结论 :PD-1基因rs10204525 A/G SNP可以作为高发区人群ESCC遗传易感性的标志物。
[Abstract]:Objective: to investigate the relationship between rs36084323 A / G single nucleotide polymorphisms (rs36084323 A / G) and rs10204525 A / G SNP and susceptibility to esophageal squamous cell carcinoma (ESCC) in a population with high incidence of 1(programmed cell death 1 PD-1 and rs10204525 A / G SNP in high incidence area of Cixian County, Hebei Province. Methods: the genetic susceptibility of rs36084323 A / G polymorphism and rs10204525 A / G SNP to esophageal squamous cell carcinoma (ESCC) was investigated in high incidence population of Cixian County, Hebei Province. Methods: blood samples of 584 cases of ESCC and 585 controls were collected. Polymerase chain reaction-ligase detection reaction- PCR LDR was used to type rs36084323 A / G SNP and rs10204525 A / G SNP in PD-1 gene. Results the percentage of positive individuals with upper gastrointestinal cancer UGIC family history was 47.1%. The family history of UGIC was significantly higher than that of the control group (38.3%, 蠂 29.247). The family history of UGIC was positively correlated with the risk of ESCC. The ratio of age to smoking was higher than that of odds odds odds / odds / 95% confidence interval / confidence / confidence interval.There was no significant difference in the frequency of rs36084323 A / G SNP genotype and allele frequency of PD-1 gene between ESCC case group and control group (P0.05. ESCC) and control group (P 0.05). The frequency of G / G genotype of rs10204525 A / G / SNP A / G / G / G was 55.7% and 50.6% and 40.7%, respectively. Compared with the A / A genotype, the G / G genotype was negatively correlated with the risk of ESCC. According to sex, age, smoking status and UGIC family history, a stratified analysis was carried out on the basis of sex, age, smoking status and UGIC family history. The frequency of G allele in the ESCC group was 25.0, which was significantly lower than that in the control group (29.1%). Compared with the A allele, the G allele of G allele was negatively correlated with the risk of ESCC. There was a negative correlation between G allele and the risk of ESCC. It is suggested that rs10204525 A / G SNP of rs10204525 PD-1 gene can be used as a marker of ESCC genetic susceptibility in high incidence population.
【作者单位】：河北医科大学第四医院河北省肿瘤研究所;
【分类号】：R735.1

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