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Background <p>Tuberculosis (TB) affects around 10 million people globally every year. The death rate from TB disease is substantial (almost 50%) if treatment is not received. In 2023, Sudan’s tuberculosis incidence is estimated at 134 cases per 100,000 population, with a 95% confidence interval of 125 to 145 cases per 100,000. The current tuberculosis mortality rate in Sudan is estimated at 25.0 deaths per 100,000 individuals. Several previous studies established an association between different cytokine genetic variants and TB across different ethnic groups. To our knowledge, no published studies have investigated the association between TGFβ1 polymorphisms (such as −509&#xa0;C/T or T869C) and tuberculosis susceptibility in the Sudanese population.</p> Method <p>A case-control study was conducted at Abu Anja Chest Hospital, Omdurman, Khartoum State, Sudan, between February 2018 and February 2021. A total of 200 EDTA blood samples were collected from patients newly diagnosed with pulmonary tuberculosis, and 200 EDTA blood samples from healthy controls. DNA extraction was done using the guanidine chloride method. Genotyping was performed using PCR-RFLP to investigate the influence of the TGF-β1 <i>C-509T</i> and TGF-β1 <i>T869C</i> polymorphisms on the susceptibility of Sudanese patients to pulmonary tuberculosis infection. Version 20.0 of IBM SPSS was used to analyze the data. (IBM Corp., Armonk, NY).</p> Result <p>The mutant and heterozygous genotypes in the TGF-β1-509&#xa0;C/T polymorphism were associated with a nearly threefold increased risk of TB development in the Sudanese population (P-value &lt; 0.001, OR 2.688, 95% CI <i>1.638–4.411).</i> No statistically significant differences in genotype or allele frequencies of the TGF-β1 <i>T869C</i> gene were observed between patients and controls.</p> Conclusion <p>The presence of even a single mutant allele (C) in this locus, 509T in TGFβ1, confers a significant risk of developing TB in Sudanese ethnics.</p> Clinical trial number <p>Not applicable. This article is extracted from my Ph.D. thesis entitled: The Role of Host Cytokine Genetic Polymorphism in Susceptibility to <i>Mycobacterium Tuberculosis</i> Infection.</p>

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The role of TGF-β1 C-509T and TGF-β1 T869C polymorphisms in susceptibility to tuberculosis infection in a Sudanese population: a case-control study

  • 期刊论文

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  • 发表日期：

    2025年11月29日

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  • Salma A. Moharrum,
  • Naser Eldin Bilal,
  • Najwa A. Mhmoud

摘要

Background

Tuberculosis (TB) affects around 10 million people globally every year. The death rate from TB disease is substantial (almost 50%) if treatment is not received. In 2023, Sudan’s tuberculosis incidence is estimated at 134 cases per 100,000 population, with a 95% confidence interval of 125 to 145 cases per 100,000. The current tuberculosis mortality rate in Sudan is estimated at 25.0 deaths per 100,000 individuals. Several previous studies established an association between different cytokine genetic variants and TB across different ethnic groups. To our knowledge, no published studies have investigated the association between TGFβ1 polymorphisms (such as −509 C/T or T869C) and tuberculosis susceptibility in the Sudanese population.

Method

A case-control study was conducted at Abu Anja Chest Hospital, Omdurman, Khartoum State, Sudan, between February 2018 and February 2021. A total of 200 EDTA blood samples were collected from patients newly diagnosed with pulmonary tuberculosis, and 200 EDTA blood samples from healthy controls. DNA extraction was done using the guanidine chloride method. Genotyping was performed using PCR-RFLP to investigate the influence of the TGF-β1 C-509T and TGF-β1 T869C polymorphisms on the susceptibility of Sudanese patients to pulmonary tuberculosis infection. Version 20.0 of IBM SPSS was used to analyze the data. (IBM Corp., Armonk, NY).

Result

The mutant and heterozygous genotypes in the TGF-β1-509 C/T polymorphism were associated with a nearly threefold increased risk of TB development in the Sudanese population (P-value < 0.001, OR 2.688, 95% CI 1.638–4.411). No statistically significant differences in genotype or allele frequencies of the TGF-β1 T869C gene were observed between patients and controls.

Conclusion

The presence of even a single mutant allele (C) in this locus, 509T in TGFβ1, confers a significant risk of developing TB in Sudanese ethnics.

Clinical trial number

Not applicable. This article is extracted from my Ph.D. thesis entitled: The Role of Host Cytokine Genetic Polymorphism in Susceptibility to Mycobacterium Tuberculosis Infection.