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目的通过病例-对照研究,探讨肿瘤坏死因子-α(TNF-α)基因启动子区-238A/G、-308A/G位点单核苷酸多态性(SNP)与肺结核病的关系。方法采用序列特异性引物PCR(PCR-SSP)及测序技术检测深圳地区汉族人群肺结核患者200例及健康对照者197例TNF-α启动子区-238A/G、-308A/G位点基因多态性。采用直接计数法计算各组基因型频率及等位基因频率,并进行χ2检验;采用SHEsis软件进行单倍型分析。以P值<0.05为具有统计学意义。结果2组人群TNF-α启动子区-238A/G、-308A/G位点基因型及等位基因分布频率差异无统计学意义(P>0.05);两位点各种单倍型在2组间分布差异无统计学意义(P>0.05)。结论TNF-α启动子区-238、-308位点基因多态性与中国汉族人群肺结核病易感性未见关联。
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) at -238A / G and -308A / G sites of tumor necrosis factor-α (TNF-α) gene and pulmonary tuberculosis through a case-control study. Methods Sequence-specific primer PCR (PCR-SSP) and sequencing were used to detect the polymorphisms of -238A / G and -308A / G in TNF-α promoter region in 200 Chinese Han patients with pulmonary tuberculosis in 200 cases and healthy controls Sex. The direct counting method was used to calculate the genotype frequency and allele frequency of each group, and the χ2 test was performed. The haplotype analysis was performed using SHEsis software. P value <0.05 was considered statistically significant. Results There was no significant difference in genotype and allele distribution frequencies of -238A / G and -308A / G of TNF-α promoter between the two groups (P> 0.05) There was no significant difference between groups (P> 0.05). Conclusion There is no correlation between TNF-α promoter region -238, -308 gene polymorphism and pulmonary tuberculosis susceptibility in Chinese Han population.