Laboratorio de Inmunología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara. Sierra Mojada 950, Guadalajara 44340, Jalisco, México.
Centro de Investigación en Inmunología y Dermatología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara. Sierra Mojada 950, Guadalajara 44340, Jalisco, México.
J Infect Dev Ctries. 2024 May 30;18(5):770-778. doi: 10.3855/jidc.17658.
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).
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.
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.
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.
已有研究表明，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（SNPs）可能与瘤型麻风（LL）的发病机制有关。为了进一步在墨西哥人群中探索这些结果，我们比较了 133 例 LL 患者和 198 例健康对照者中 TNFα 基因-308 G>A（rs1800629）、TNFRS1A 基因-383 A>C（rs2234649）和 TNFSR1B 基因+196 T>G（rs1061622）的多态性频率。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术进行基因分型。使用 χ2 检验进行统计分析，置信区间为 95%。计算了比值比（OR），并对所有对照者和患者进行了 Hardy-Weinberg 平衡验证。
与对照组相比，我们发现 TNFSR1-383 A>C 基因型与瘤型麻风的发病风险相关（OR=1.71，95%CI：1.08-2.69，p=0.02）。此外，在显性模型中，它也与 LL 的发病风险相关（AC+CC 与 AA 相比，OR：1.65，95%CI：1.05-2.057，p=0.02）。在麻风病患者和健康人群中，TNFα-308 G>A 和 TNFSR2+196 T>G 的 SNP 也观察到相似的基因型和等位基因频率。
TNFSR1-383 A>C 可能是识别高危人群的潜在标志物。然而，需要使用来自不同种族人群的更大样本进行进一步的研究。
