Western 墨西哥患者中 TNFA、TNFRSF1A 和 TNFRSF1B 基因多态性与瘤型麻风的关联。

Association of polymorphisms in the TNFA, TNFRSF1A and TNFRSF1B genes with lepromatous leprosy in Western Mexican patients.

机构信息

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.

出版信息

J Infect Dev Ctries. 2024 May 30;18(5):770-778. doi: 10.3855/jidc.17658.

DOI:10.3855/jidc.17658

PMID:38865403

Abstract

INTRODUCTION

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).

METHODOLOGY

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

简介

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。

方法

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。

结果

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。