A polymorphism in the FAM13A gene confers protection against tuberculosis in Brazilian workers exposed to silica.

IF 2.9 4区医学 Q2 RESPIRATORY SYSTEM

Jornal Brasileiro De Pneumologia Pub Date : 2025-06-13 eCollection Date: 2025-01-01 DOI:10.36416/1806-3756/e20240327

Marcos César Santos de Castro, Angela Santos Ferreira Nani, Kaio Cezar Rodrigues Salum, Lucas de Carvalho Costa, Valéria Barbosa Moreira, Hermano Albuquerque de Castro, Patrícia Canto Ribeiro, Walter Costa, Cícero Brasileiro de Mello, Fabiana Barzotto Kohlrausch

{"title":"A polymorphism in the FAM13A gene confers protection against tuberculosis in Brazilian workers exposed to silica.","authors":"Marcos César Santos de Castro, Angela Santos Ferreira Nani, Kaio Cezar Rodrigues Salum, Lucas de Carvalho Costa, Valéria Barbosa Moreira, Hermano Albuquerque de Castro, Patrícia Canto Ribeiro, Walter Costa, Cícero Brasileiro de Mello, Fabiana Barzotto Kohlrausch","doi":"10.36416/1806-3756/e20240327","DOIUrl":null,"url":null,"abstract":"Objective: 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.Methods: Nine polymorphisms were genotyped using Polymerase Chain Reaction (PCR) in a sample of 143 patients with silicosis in Rio de Janeiro (RJ), Brazil.Results: 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.Conclusion: 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.","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"51 2","pages":"e20240327"},"PeriodicalIF":2.9000,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jornal Brasileiro De Pneumologia","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.36416/1806-3756/e20240327","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: 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.

Methods: Nine polymorphisms were genotyped using Polymerase Chain Reaction (PCR) in a sample of 143 patients with silicosis in Rio de Janeiro (RJ), Brazil.

Results: 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.

Conclusion: 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.

查看原文本刊更多论文

FAM13A基因的多态性可以保护接触二氧化硅的巴西工人免受肺结核的侵害。

目的：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）确认为全球性流行病。结核病是与矽肺相关的主要传染病，研究表明，与健康人相比，患病风险增加。我们进行了一项关联研究，以评估ACE、FAM13A、FAS、FASLG、IL1RN、NOS2、TGFB1和TNF基因多态性对结核病易感性的影响。方法：采用聚合酶链反应（PCR）对巴西巴西里约热内卢市143例矽肺患者的9个多态性进行基因分型。结果：70例（49%）患者既往确诊结核，其中单纯性矽肺25例（35.7%），合并矽肺45例（64.3%）。FAM13A中rs2609255的TG基因型显示出对TB的保护作用(OR=0.46；95% ci: 0.22-0.98；p=0.040)与GG基因型比较，也与两种组合纯合基因型（TT+GG）比较(OR=0.43；95% ci: 0.20-0.90；p = 0.024)。包括独立临床变量在内的Logistic回归分析证实了TG基因型的保护作用。结论：本研究提示FAM13A基因rs2609255多态性可能与矽肺患者结核病风险有关。鉴于对矽肺患者遗传多态性和结核易感性的研究有限，需要进一步的研究来验证这些发现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Jornal Brasileiro De Pneumologia RESPIRATORY SYSTEM-

CiteScore

3.50

自引率

14.80%

发文量

118

审稿时长

20 weeks

期刊介绍： The Brazilian Journal of Pulmonology publishes scientific articles that contribute to the improvement of knowledge in the field of the lung diseases and related areas.