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Updated: Jul 10, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
SLC11A1 (formerly NRAMP1) polymorphisms associated with multidrug-resistant tuberculosis.
Kosuke Takahashi1, Yoshinori Hasegawa, Tomoji Abe
1Department of Medicine, Division of Respiratory Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan.
Tuberculosis (Edinburgh, Scotland)
|October 24, 2007
Summary
Genetic variations in the solute carrier family 11 member 1 gene (SLC11A1) are linked to multidrug-resistant tuberculosis (MDR-TB). These SLC11A1 polymorphisms may influence MDR-TB incidence and clinical tuberculosis features.
Area of Science:
- Genetics
- Infectious Diseases
- Immunology
Background:
- The solute carrier family 11 member 1 gene (SLC11A1), previously known as NRAMP1, is recognized as a host genetic factor influencing tuberculosis susceptibility.
- Understanding genetic predispositions is crucial for managing tuberculosis, particularly multidrug-resistant tuberculosis (MDR-TB).
Purpose of the Study:
- To investigate the association between SLC11A1 gene polymorphisms and the incidence of MDR-TB.
- To determine if SLC11A1 variations correlate with specific clinical manifestations of pulmonary tuberculosis.
Main Methods:
- Genotyping of four SLC11A1 polymorphisms (5'(GT)n, INT4, D543N, and 3'UTR) using polymerase chain reaction and restriction fragment-length polymorphism analysis.
- Analysis of clinical data from 95 pulmonary tuberculosis patients, including 10 MDR-TB cases, focusing on sputum culture conversion time, disease extent, and cavitation.
- Evaluation of prior treatment history and compliance in MDR-TB patients.
Main Results:
- SLC11A1 D543N and 3'UTR variations showed a significant association with MDR-TB incidence (OR=5.03, P=0.02).
- These variations were also linked to a longer time for sputum culture conversion (OR=3.86, P=0.02) and the presence of cavitary lesions (OR=5.04, P=0.02).
- Three MDR-TB patients with good treatment compliance carried at least one SLC11A1 genetic variation.
Conclusions:
- Genetic variations in SLC11A1, specifically D543N and 3'UTR, may play a role in the development of MDR-TB.
- These polymorphisms could influence key clinical features of pulmonary tuberculosis, including treatment outcomes and disease progression.
- Further research with larger MDR-TB cohorts is warranted to validate these preliminary findings.
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