Castro Marcos César Santos de, Nani Angela Santos Ferreira, Salum Kaio Cezar Rodrigues, Costa Lucas de Carvalho, Moreira Valéria Barbosa, Castro Hermano Albuquerque de, Ribeiro Patrícia Canto, Costa Walter, Mello Cícero Brasileiro de, Kohlrausch Fabiana Barzotto
. Programa de Pós-graduação em Ciências e Biotecnologia, Universidade Federal Fluminense, Niterói (RJ), Brasil.
. Departamento de Medicina Clínica, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói (RJ), Brasil.
J Bras Pneumol. 2025 Jun 13;51(2):e20240327. doi: 10.36416/1806-3756/e20240327. eCollection 2025.
Tuberculosis (TB) is an infectious disease caused by the bacillus Mycobacterium tuberculosis, which was recognized by the World Health Organization (WHO) as a global epidemic in 1993. TB is the leading infectious disease associated with silicosis, with studies showing an increased risk when compared to healthy individuals. We conducted an association study to evaluate the influence of polymorphisms in the ACE, FAM13A, FAS, FASLG, IL1RN, NOS2, TGFB1, and TNF genes on TB susceptibility.
Nine polymorphisms were genotyped using Polymerase Chain Reaction (PCR) in a sample of 143 patients with silicosis in Rio de Janeiro (RJ), Brazil.
Seventy (49%) patients had a confirmed prior diagnosis of TB, of whom 25 (35.7%) had simple silicosis and 45 (64.3%) had complicated silicosis. The TG genotype of rs2609255 in FAM13A showed a protective effect against TB (OR=0.46; 95% CI: 0.22-0.98; p=0.040) compared to the GG genotype, and also when compared to the two combined homozygous genotypes (TT+GG) (OR=0.43; 95% CI: 0.20-0.90; p=0.024). Logistic regression analysis, including independent clinical variables, confirmed the protective effect of the TG genotype.
This study suggests that the rs2609255 polymorphism in FAM13A may play a role in TB risk among patients with silicosis. Given the limited research on genetic polymorphisms and TB susceptibility in silicosis patients, further studies are needed to validate these findings.
结核病（TB）是由结核分枝杆菌引起的一种传染病，1993年被世界卫生组织（WHO）认定为全球流行病。结核病是与矽肺相关的主要传染病，研究表明与健康个体相比，矽肺患者患结核病的风险增加。我们进行了一项关联研究，以评估血管紧张素转换酶（ACE）、家族性地中海热13A（FAM13A）、凋亡相关因子（FAS）、FAS配体（FASLG）、白细胞介素1受体拮抗剂（IL1RN）、一氧化氮合酶2（NOS2）、转化生长因子β1（TGFB1）和肿瘤坏死因子（TNF）基因多态性对结核病易感性的影响。
在巴西里约热内卢（RJ）的143例矽肺患者样本中，使用聚合酶链反应（PCR）对9种多态性进行基因分型。
70例（49%）患者先前确诊患有结核病，其中25例（35.7%）患有单纯矽肺，45例（64.3%）患有复杂矽肺。与GG基因型相比，FAM13A基因中rs2609255的TG基因型对结核病具有保护作用（OR = 0.46；95%置信区间：0.22 - 0.98；p = 0.040），与两种纯合基因型（TT + GG）组合相比时也是如此（OR = 0.43；95%置信区间：0.20 - 0.90；p = 0.024）。包括独立临床变量的逻辑回归分析证实了TG基因型的保护作用。
本研究表明，FAM13A基因中的rs2609255多态性可能在矽肺患者的结核病风险中起作用。鉴于对矽肺患者基因多态性与结核病易感性的研究有限，需要进一步研究来验证这些发现。
