XRCC1基因多态性与宫颈癌发病风险及临床病理因素的关系  

Relationship of XRCC1 polymorphism with the risks and clinicopathological factors of cervical cancer

作　　者：樊晓妹[1] 李魁秀[1] 牛书怀[1] 房朝辉[1] 刘红[1] 

机构地区：[1]河北医科大学第四医院妇瘤科,石家庄050011

出　　处：《中华医学杂志》2013年第43期3454-3456,共3页National Medical Journal of China

摘　　要：目的 探讨XRCC1基因Arg194Trp、Arg399Gln单核苷酸多态性（SNP）与宫颈癌遗传易感性和临床病理因素的关系.方法 采用错配扩增聚合酶链式反应方法检测235例宫颈癌患者和350例健康对照个体血液标本的XRCC1 Arg194Trp、Arg399Gln两个SNP的基因型频率分布,分析其与宫颈癌遗传易感性和临床病理因素的关系.结果 对于XRCC1Arg194Trp和Arg399Gln位点,两组间的等位基因频率和基因型分布差异有统计学意义;与Arg/Arg基因型组相比较携带Trp/Trp基因型组差异有统计学意义（P〈0.01）,Arg/Arg基因型作为保护因子与Arg/Arg基因型组相比较,携带Gln/Gln基因型组差异有统计学意义（P〈0.01）,Arg/Arg基因型作为保护因子.携带单体型194Trp-399Gln个体相比,带有单体型194Arg-399Gln和194Arg-399Arg的个体均降低宫颈癌的风险.Arg399Gln多态与肿瘤病理分级、临床分期差异有统计学意义.结论 与Arg/Arg基因型相比携带Trp/Trp或Gln/Gln基因型有可能增加宫颈鳞癌的发病风险.携带等位基因Trp或Gln者患病风险会增高,等位基因Arg可能为保护因子.Arg399Gln多态与宫颈鳞癌临床分期、病理分级可能有关.Objective To explore the correlation of XRCC1 Arg194Trp Arg399Gln SNPs with the risks and clinicopathological factors of cervical cancer. Methods Polymorphisms Arg194Trp, Arg399Gln of XRCC1 gene in 253 cervical cancer patients and 350 healthy controls were analyzed by mismatch amplification polymerase chain reaction （MAMA-PCR）. Results Compared with the Arg/Arg genotypes, the Trp/Trp genotypes could increase the risk of cervical cancer （ P = 0. 000 ）. Arg/Arg was a protection factor with an odds ratio of 0. 116 （95 % CI = 0. 043 - 0. 316 ）. The frequency of Arg and Gin allele among cervical cancer and healthy controls were 56. 81% , 43.19% and 64. 86% , 35.14%. Compared with the Arg genotypes, the Gln genotypes could increase the risk of cervical cancer （ P 〈 0. 05 ）. Compared with the Arg/Arg genotypes, the Gln/Gln genotypes could increase the risk of cervical cancer（ P 〈 0. O1 ）. Arg/Arg was a protection factor with an odds ratio of 0. 188 （ 95% CI = 0. 089 - 0. 398 ）. Using haplotypes 194Trp- 399Gln as a reference, women carrying 194Arg-399Gln and 194Arg-399Arg halpotypes had a significantly decreased risk for cervical carcinoma. The adjusted OR and 95 % C! were 0. 613 [ 0. 446, 0. 842 ] and 0. 635 [ 0. 449, 0. 899 ]. The frequencies of Arg/Arg, Arg/Gln, Gln/Gln genotype had significant relationship with clinical stage and histological grade. Tumor diameter, patient age and neoplastic form had no relationship. Conclusion Compared with the Arg/Arg genotypes, the Trp/Trp and Glrl/ Gin genotypes could increase the risk of cervical cancer. The Trp or Gin genotypes risk increases. Arg may be a protection factor. The frequencies of Arg399Gln SNP have a correlation with stage and histological grade.

关 键 词：宫颈肿瘤 DNA修复 多态性 单核苷酸 

分 类 号：R737.33[医药卫生—肿瘤]