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目的:探讨X射线交错互补修复基因1(XRCC1)Arg399Gln多态性与新疆不同民族喉癌发生风险的相关性。方法:采用病例组和对照组设计,选择新疆维、汉、哈民族60例喉鳞状细胞癌患者和120例体检正常的健康人,2组间年龄和性别进行匹配,应用Multiplex SNaPshot技术(多重单碱基延伸反应技术)方法检测DNA碱基切除修复基因XRCC1的Arg399Gln位点单核苷酸多态在病例组和对照组中的分布情况。结果:病例组中携带XRCC1c.399位点Arg/Gln(杂合型)及Gln/Gln(突变型)基因型的比例明显高于对照组(P<0.01)。其中汉、维、哈3个民族病例组XRCC 1c.399G1n/Gln基因型比例显著高于对照组(P<0.05),携带XRCC1c.399G1n/Gln基因型个体较携带XRCC1c.399Arg/Arg基因型的个体患喉鳞状细胞癌的风险分别升高了1.47倍(OR=1.47,95%CI为0.46～4.69),1.32倍(OR=1.32,95%CI为0.23～2.63),0.77倍(OR=0.77,95%CI为0.47～3.70)。结论:3个民族的XRCC1c.399多态性可能与喉癌遗传性有关联且有差异,XRCC1c.399位点Arg→Gln的突变将导致喉癌的发病风险升高。
Objective: To investigate the correlation between the XRCC1 Arg399Gln polymorphism and the risk of laryngeal cancer in different nationalities in Xinjiang. Methods: Sixty cases of laryngeal squamous cell carcinoma from Xinjiang, Han and Ha nationalities and 120 healthy subjects were selected. The age and gender of the two groups were matched. Multiplex SNaPshot technique (multiple Single base extension reaction) method was used to detect the distribution of Arg399Gln single nucleotide polymorphism in DNA excision repair gene XRCC1 in case group and control group. Results: The proportion of Arg / Gln (heterozygous) and Gln / Gln (mutant) genotypes carrying XRCC1c.399 in the case group was significantly higher than that of the control group (P <0.01). The genotypes of XRCC 1c.399G1n / Gln in Han, Wei and Ha ethnic groups were significantly higher than those in control group (P <0.05). The genotype XRCC1c.399G1n / Gln genotypes of XRCC1c.399G1n / Gln genotypes carrying XRCC1c.399Arg / Arg genotype The odds of having squamous cell carcinoma of the larynx increased by 1.47 times (OR = 1.47, 95% CI 0.46-4.69), 1.32 times (OR = 1.32, 95% CI 0.23-2.63) 0.77, 95% CI 0.47 ~ 3.70). Conclusion: The XRCC1c.399 polymorphism of three ethnic groups may be related to the genetic variation of laryngeal cancer. The mutation of Arg → Gln at XRCC1c.399 will lead to the increased risk of laryngeal cancer.