JWA基因多态性与消化道肿瘤易感性关系的研究

目的:研究中国江苏人群JWA基因单核苷酸多态性(SNPs)与消化道肿瘤易感性的关系。方法:采用聚合酶链式反应—单链构象多态性(PCR-SSCP)方法对年龄、性别相匹配的202例消化道肿瘤患者和215例健康人群的外周血淋巴细胞基因组DNA标本检测了JWA启动子-76G/C和外显子3区723T/GSNPs的频率和分布,用DNA直接测序法证实SNPs变异。分析探讨JWA基因多态性和消化道肿瘤易感性的关系。结果:-76G/C多态性在消化道病例中的频率(19.3%)显著高于对照(10.7%)。-76G/C变异时罹患消化道肿瘤的危险性是正常时的1.99倍(调整的比值比:1.99;95%可信区间:1.14～3.48)。存在上述变异位点的男性患者患消化道肿瘤的危险性增加,而与性别及饮酒的关系不明显。723T/G多态性频率在消化道肿瘤患者和对照人群中的分布无显著差异。结论:在中国江苏汉族人群中,JWA基因5'侧翼区的多态位点-76G/C变异显著增加江苏汉族人群患消化道肿瘤的危险性,外显子3区多态723T/G则无显著性差异。

Association between the polymorphisms of JWA gene and the risk of digestive system cancers in a Jiangsu population

Objective: To investigate the association between JWA gene single nucleotide polymorphisms (SNPs) and the risk of digestive system cancers in Jiangsu Han population. Methods: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method was used to screen JWA SNPs from 202 in-hospital 202 patients with digestive system cancers and 215 controls. The variants were confirmed by further direct DNA sequencing. Results: The frequency of -76G/C variation in cancer patients (19.3%) was significantly higher than that in controls(10.7%),with the adjusted OR = 1.99,and 95%CI: 1.14-3.48. The risk of digestive system cancers was more significant in male subjects while not associated with sex or drinking status. However, the frequency of 723T/G,another JWA SNPs, did not show significant difference between the cancer and cancer-free subjects. Conclusion: JWA SNP,-76G/C,significantly increases the risk of digestive system cancers in Jiangsu Han population.