【摘要】 目的通过病例-对照研究,探讨X-射线交错互补修复基因1(X-ray repair cross-complementing gene1,XRCC1)基因多态性与贲门腺癌(gastric cardiac adenocarcinoma,GCA)发病风险的关系。方法采用聚合酶链反应-限制性片段长度多态性技术检测455例GCA患者和650例对照人群XRCC1Arg194Trp、Arg280His及Arg399Gln3个多态性位点基因型和等位基因频率分布情况。结果XRCC1Arg194Trp及Arg399Gln多态位点的基因型及等位基因型频率的分布在患者组和对照组之间无明显的差异(P>0.05)。但以吸烟和家族史状况分层分析发现,吸烟组中GCA患者280位点的His等位基因频率为11.5%,明显高于对照组8.2%,GCA患者组和健康对照组中Arg/Arg、Arg/His、His/His三种基因型频率分别是77.9%、21.2%、0.9%和84.9%、13.7%、1.4%,两组相比差异具有统计学意义(χ2=4.107,P=0.043)。与Arg/Arg基因型相比,携带His等位基因(Arg/His+His/His)可明显增高吸烟人群GCA的发病风险(OR=1.572,95%CI=1.00～2.51)。结论本研究结果提示XRCC1基因Arg194Trp、Arg399Gln多态位点可能与GCA的发病风险无关,但Arg280His多态的His等位基因型可能增加吸烟人群GCA的发病风险。更多还原

【Abstract】 Objective X-ray repair cross complementing 1 (XRCC1) belongs to the base excision repair(BER).Single nucleotide polymorphisms (SNP) in XRCC1 gene may affect DNA repairing ability and genetic susceptibility to cancer.This study was designed to investigate the correlation of XRCC1 Arg194Trp,Arg399Gln and Arg280His SNPs with the risk of gastric cardiac adenocarcinoma in a population from Hebei province of China.Methods XRCC1 SNPs were genotyped by polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) analysis in 455 GCA patients and 650 healthy controls.Results The overall allele and genotype distribtions of XRCC1 Arg194Trp and Arg399Gln in GCA patients were not significantly different from those in healthy controls(P>0.05).When stratified for smoking status,at the codon 280,the frequency of allele His (11.5%) was significantly higher than the healthy controls (8.2%);the Arg/Arg,Arg/His,His/His genotpye frequencies in patients and smoker controls group were 77.9%,21.2%,0.9 % and 84.9%,13.7%,1.4% respectively.There was a significant difference between the two group (χ2=4.107,P=0.043).A significant increase in GCA risk was seen among smoking groups if they carried at least one XRCC1 280 His allele (OR=1.572,95%CI=1.00-2.51) compared to smoking individuals not carrying these genotype.Conclusion The XRCC1 Arg194Trp,Arg399Gln,Arg280His may not be associated with the risk of GCA.However,the smoking individuals with the His allele in Arg280His may face increased the risk of the GCA.更多还原