Abstract

Background The factors that predispose to pulmonary tuberculosis (PTB) are not fully understood. Previous studies have shown that cytokine gene polymorphisms were associated with PTB. Objectives In this study, we have investigated the relationship between ILB, IL6, and TNFα polymorphisms and a predisposition to Mycobacterium tuberculosis (MTB) infection and PTB. Methods A total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HCS) were included in this study. Logistic regression analyses under allelic, homozygous, and heterozygous models were used to calculate P values, odds ratios (ORs), and 95% confidence intervals (CIs) for assessing the association between single nucleotide polymorphisms (SNPs) and disease risk, adjusting for sex and age. Genotyping was conducted using the improved multiplex ligase detection reaction (iMLDR) method. Results When comparing PTB patients with LTBI subjects, significant associations with disease development were observed for SNPs of IL6 and TNFα. When comparing LTBI subjects with HCS, IL1B polymorphisms were significantly associated with LIBI. Haplotype analyses suggested that the CGG haplotype of IL1B was associated with an increased risk of PTB (P = 0.039, OR = 1.34, 95% CI: 1.01–1.76), while the TTGCG haplotype of TNFα was a protective factor against PTB (P = 0.039, OR = 0.66, 95% CI: 0.44–0.98). Conclusion Our study demonstrated that IL1B variants were related to LTBI and IL6 and TNFα variants were associated with PTB.

Highlights

  • Tuberculosis (TB) is still a major cause of mortality and morbidity in developing countries

  • Most previous studies focused on the association between gene polymorphisms and TB using control subjects including latent TB infection (LTBI) and no TB infection individuals

  • Previous studies have revealed that high levels of IL1B were detected in alveolar macrophages from pulmonary tuberculosis (PTB) patients and these levels were related to significant tissue necrosis in lung lesions of PTB cases with a large cavity [25]

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Summary

Introduction

Tuberculosis (TB) is still a major cause of mortality and morbidity in developing countries. In 90% of subjects infected with MTB (LTBI), the ensuing immune response arrests further the development of TB disease. Previous studies have shown that cytokine gene polymorphisms were associated with PTB. We have investigated the relationship between ILB, IL6, and TNFα polymorphisms and a predisposition to Mycobacterium tuberculosis (MTB) infection and PTB. A total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HCS) were included in this study. When comparing PTB patients with LTBI subjects, significant associations with disease development were observed for SNPs of IL6 and TNFα. When comparing LTBI subjects with HCS, IL1B polymorphisms were significantly associated with LIBI. Our study demonstrated that IL1B variants were related to LTBI and IL6 and TNFα variants were associated with PTB

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