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Genetic susceptibility in tuberculosis
Jae-Joon Yim1, Paramasivam Selvaraj
1Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine and Lung Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Respirology (Carlton, Vic.)
|March 5, 2010
Summary
Host genetics significantly influence tuberculosis (TB) susceptibility. Research identifies numerous genes, like human leucocyte antigen and pattern recognition receptors, linked to TB risk across diverse populations.
Area of Science:
- Immunogenetics
- Tuberculosis Research
- Human Genetics
Background:
- Host genetic factors play a crucial role in determining individual susceptibility to tuberculosis (TB).
- Extensive research using case-control, candidate gene, and genome-wide linkage studies has explored these genetic influences.
- Previous studies have identified numerous candidate genes associated with differential TB susceptibility across various ethnic groups.
Purpose of the Study:
- To review and synthesize the current understanding of host genetic factors influencing tuberculosis susceptibility.
- To highlight key genes and genetic variations implicated in TB risk.
- To discuss the heterogeneity in findings and potential explanations like host-pathogen and gene-environment interactions.
Main Methods:
- Review of existing literature on host genetics and tuberculosis.
- Analysis of findings from case-control, candidate gene, and genome-wide linkage studies.
- Identification and categorization of significant genetic loci and polymorphisms associated with TB.
Main Results:
- Several gene families, including human leucocyte antigen (HLA) alleles, cytokines, chemokines, pattern recognition receptors (e.g., Toll-like receptors, mannose binding lectin), solute carrier family 11A member 1, and purinergic P2X7 receptor, are associated with TB susceptibility.
- Significant heterogeneity in genetic associations has been observed across different ethnic populations.
- Host-pathogen interactions, gene-environment interactions, and evolutionary selection pressures are proposed explanations for this heterogeneity.
Conclusions:
- Host genetic factors are integral to understanding tuberculosis susceptibility.
- While genetic discoveries have not yet directly impacted TB prevention and treatment, they provide a foundation for future translational research.
- Future research directions may involve integrating genetic findings with environmental and pathogen factors for a more comprehensive approach to TB control.
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