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目的:探讨新疆维吾尔族(维族)和汉族胃癌患者肿瘤坏死因子-α基因(TNF-A)rs1800629和rs361525位点多态性及其单体型与胃癌易感性的关系。方法:采用Snapshot技术分析322例胃癌患者(其中维族93例,汉族229例)和作为对照的487例非胃癌患者(其中维族231例,汉族256例)TNF-A基因rs1800629和rs361525位点基因型的分布;利用SHEsis软件分析其构成的单体型在病例组和对照组中的分布频率,比较基因型和单体型在病例组和对照组间的分布差异。结果:在维族人群中,TNF-A基因rs1800629和rs361.525位点不论是等位基因位点、基因型还是单体型在病例组和对照组中的分布频率差异均无统计学意义(P>0.05)。在汉族人群中,TNF-A基因rs361525位点AA+GA基因型在病例组和对照组之间的分布差异有统计学意义(χ=4.56,P=0.03),即携带A等位基因者发生胃癌的风险增加(OR=2.41,95%CI:1.06~5.49);rs1800629位点基因型与胃癌之间未发现明显关联;A-A单体型在病例组及对照组分布频率分别为0.92%和0.86%,差异有统计学意义(χ~2=7.03,P=0.01)。结论:TNF-A基因单核苷酸多态性与汉族人群胃癌发病风险相关,这种相关性具有民族差异。
Objective: To investigate the relationship between TNF-A rs1800629 and rs361525 polymorphisms and their haplotypes and susceptibility to gastric cancer in Xinjiang Uygur and Uygur peoples. Methods: 322 patients with gastric cancer (including 93 Uygur and 229 Han) and 487 non-stomach cancer patients (including Uyghur 231 and Han 256) were analyzed for TNF-A gene rs1800629 and rs361525 loci by Snapshot technique. The distribution of the haplotypes in the case group and the control group was analyzed using the SHEsis software, and the differences in the distribution of genotypes and haplotypes between the case group and the control group were compared. RESULTS: In the Uygur population, there was no statistically significant difference in the distribution frequencies of TNF-A gene rs1800629 and rs361.525 regardless of allelic loci, genotypes, or haplotypes in the case group and the control group (P). >0.05). In the Han population, the distribution of TNF-A gene rs361525 locus AA+GA genotype was significantly different between the case group and the control group (χ=4.56, P=0.03). The risk of gastric cancer increased (OR=2.41, 95%CI: 1.06 to 5.49); no significant association was found between rs1800629 locus genotype and gastric cancer; the frequency of AA haplotype in the case and control groups was 0.92% and 0.86, respectively. %, the difference was statistically significant (χ~2=7.03, P=0.01). Conclusion: The single nucleotide polymorphism of TNF-A gene is associated with the risk of gastric cancer in Han population. This correlation has national differences.