汉族人群XRCC1基因多态性与神经胶质瘤易感性的相关性研究  

Association between XRCC1 gene polymorphisms and the genetic susceptibility to glioma among Han Chinese population

作　　者：王永福[1] 谭黎明[2] 屈健[3] 罗为民[1] 王上元[1] 罗琦山[1] 何友智[1] 

机构地区：[1]湖南省长沙市中心医院,湖南长沙410004 [2]湖南省人民医院 [3]中南大学湘雅医学院

出　　处：《实用预防医学》2016年第6期714-717,共4页Practical Preventive Medicine

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Arg280HisA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％vs22．83％；1．36％vs4．63％）。Arg399GlnA等位基因频率胶质瘤组显著高于健康对照组（38．72％vs30．06％，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％vs38．15％；16．03％vs10．98％）。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 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 Arg280His 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 Arg399Gln 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 Arg194Trp 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.

关 键 词：XRCC1 胶质瘤 多态性 易感性 

分 类 号：R739.4[医药卫生—肿瘤]