【摘要】 目的探讨X线交错互补修复基因1(XRCC1)基因多态性与神经胶质瘤易感性的相关性。方法对368名汉族脑胶质瘤患者和346名健康对照者进行基因分型,XRCC1 Arg194Trp(rs1799782)、Arg280His(rs25489)、Arg399Gln(rs25487)三种多态性进行直接测序。结果胶质瘤组Arg280His A等位基因频率显著低于健康对照组中频率(9.65%vs 16.04%,OR=0.60(0.46~0.80),P<0.001);GA与AA基因型频率两组间差异有统计学意义(16.58%vs 22.83%;1.36%vs 4.63%)。Arg399Gln A等位基因频率胶质瘤组显著高于健康对照组(38.72%vs 30.06%,OR=1.29(1.11~1.49),P=0.001);GA或AA基因型的频率两组差异有统计学意义(45.38%vs 38.15%;16.03%vs 10.98%)。rs1799782(Arg194Trp)等位基因或基因型频率未发现不同。结论中国汉族人群XRCC1基因Arg280His(rs25489)和Arg399Gln(rs25487)多态性可能会影响胶质瘤的易感性。更多还原

【Abstract】 Objective To explore the correlation between X-ray repair cross-complementing group 1(XRCC1) gene polymorphisms and the risk of glioma.Methods Genotypes were assessed in 368 Han patients with glioma and 346 healthy controls.XRCC1 Arg194Trp(rs1799782),Arg280His(rs25489) and Arg399Gln(rs25487) polymorphisms were directly sequenced.Results The frequency of Arg280 His A allele was significantly lower in glioma group than in healthy controls [9.65% vs 16.04%,OR = 0.60(0.46-0.80),P<0.001].There were statistically significant differences in the frequencies of GA or AA genotypes between the two groups [16.58% vs 22.83%,1.36% vs 4.63%].The frequency of Arg399 Gln A allele was significantly higher in glioma group than in healthy controls [38.72% vs 30.06%,OR = 1.29(1.11-1.49),P = 0.001].There were statistically significant differences in the frequencies of GA or AA genotypes between the two groups(45.38% vs 38.15%,16.03% vs 10.98%).No statistically significant differences were found in the allele and genotype frequencies of XRCC1 Arg194 Trp between the two groups.Conclusions The Arg280His(rs25489) and Arg399Gln(rs25487) polymorphisms in XRCC1 gene may have genetic influence on the susceptibility to glioma in Chinese population.更多还原