Abstract：
BACKGROUND: Studies in different populations have shown that single-nucleotide polymorphisms (SNPs) of tumor necrosis factor-alpha (TNFα) and TNF receptors 1 and 2 (TNFR1 and TNFR2) may be involved in the pathogenesis of lepromatous leprosy (LL). To further explore the results in a Mexican population, we compared the frequencies of the polymorphisms in - 308 G>A TNFA (rs1800629), - 383 A>C TNFRS1A (rs2234649), and + 196 T >G TNFSR1B (rs1061622) genes in LL patients (n = 133) and healthy subjects (n = 198).
METHODS: The genotyping was performed with the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analysis was performed using the χ2 test, within the 95% confidence interval. Odds ratios (OR) were calculated and Hardy-Weinberg equilibrium was verified for all control subjects and patients.
RESULTS: We found an association between the TNFSR1 -383 A>C genotype and the risk of lepromatous leprosy when leprosy patients were compared to controls (OR = 1.71, CI: 1.08-2.69, p = 0.02). Furthermore, it was also associated with the risk of LL in a dominant model (AC + CC vs AA, OR: 1.65, 95% CI: 1.05-2.057, p = 0.02). Similar genotype and allele frequencies for the SNPs TNFA - 308 G>A and TNFSR2 + 196 T>G were observed between leprosy patients and healthy subjects.
CONCLUSIONS: The TNFSR1 -383 A>C could be a potential marker for the identification of high-risk populations. However, additional studies, using larger samples of different ethnic populations, are required.
METHODS: The genotyping was performed with the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analysis was performed using the χ2 test, within the 95% confidence interval. Odds ratios (OR) were calculated and Hardy-Weinberg equilibrium was verified for all control subjects and patients.
RESULTS: We found an association between the TNFSR1 -383 A>C genotype and the risk of lepromatous leprosy when leprosy patients were compared to controls (OR = 1.71, CI: 1.08-2.69, p = 0.02). Furthermore, it was also associated with the risk of LL in a dominant model (AC + CC vs AA, OR: 1.65, 95% CI: 1.05-2.057, p = 0.02). Similar genotype and allele frequencies for the SNPs TNFA - 308 G>A and TNFSR2 + 196 T>G were observed between leprosy patients and healthy subjects.
CONCLUSIONS: The TNFSR1 -383 A>C could be a potential marker for the identification of high-risk populations. However, additional studies, using larger samples of different ethnic populations, are required.
摘要：
背景：在不同人群中的研究表明，肿瘤坏死因子-α（TNFα）和TNF受体1和2（TNFR1和TNFR2）的单核苷酸多态性（SNP）可能与麻风病（LL）的发病有关。为了进一步探索墨西哥人口的结果，我们比较了-308G>ATNFA(rs1800629)中多态性的频率，-383A>CTNFRS1A(rs2234649),LL患者(n=133)和健康受试者(n=198)的+196个T>GTNFSR1B(rs1061622)基因。
方法：使用基于聚合酶链反应的限制性片段长度多态性（PCR-RFLP）技术进行基因分型。统计学分析采用χ2检验,在95%置信区间内。计算赔率比（OR），并验证所有对照受试者和患者的Hardy-Weinberg平衡。
结果：我们发现TNFSR1-383A>C基因型与麻风病患者与对照组相比的麻风病风险之间存在关联（OR=1.71，CI：1.08-2.69，p=0.02）。此外，在主导模型(AC+CCvsAA，OR：1.65，95%CI：1.05-2.057，p=0.02）。在麻风病患者和健康受试者之间观察到SNPTNFA-308G>A和TNFSR2196T>G的相似基因型和等位基因频率。
结论：TNFSR1-383A>C可能是鉴定高危人群的潜在标记。然而,额外的研究，使用不同种族人群的更大样本，是必需的。
方法：使用基于聚合酶链反应的限制性片段长度多态性（PCR-RFLP）技术进行基因分型。统计学分析采用χ2检验,在95%置信区间内。计算赔率比（OR），并验证所有对照受试者和患者的Hardy-Weinberg平衡。
结果：我们发现TNFSR1-383A>C基因型与麻风病患者与对照组相比的麻风病风险之间存在关联（OR=1.71，CI：1.08-2.69，p=0.02）。此外，在主导模型(AC+CCvsAA，OR：1.65，95%CI：1.05-2.057，p=0.02）。在麻风病患者和健康受试者之间观察到SNPTNFA-308G>A和TNFSR2196T>G的相似基因型和等位基因频率。
结论：TNFSR1-383A>C可能是鉴定高危人群的潜在标记。然而,额外的研究，使用不同种族人群的更大样本，是必需的。
