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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。
Objective To investigate the relationship between XRCC1 gene polymorphism and susceptibility to glioma. Methods 368 Han patients with gliomas and 346 healthy controls were genotyped. The three polymorphisms of XRCC1 Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487) were directly sequenced. Results The frequency of Arg280His A allele in glioma group was significantly lower than that in healthy controls (9.65% vs 16.04%, OR = 0.60 (0.46-0.80), P <0.001) There was statistical significance (16.58% vs 22.83%; 1.36% vs 4.63%). The frequency of Arg399Gln A allele in glioma group was significantly higher than that in healthy control group (38.72% vs 30.06%, OR = 1.29 (1.11-1.49), P = 0.001) Significance (45.38% vs 38.15%; 16.03% vs 10.98%). rs1799782 (Arg194Trp) allele or genotype frequency found no difference. Conclusion The polymorphisms of XRCC1 gene Arg280His (rs25489) and Arg399Gln (rs25487) in Chinese Han population may affect the susceptibility of gliomas.