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Influence of Genetic Polymorphism Towards Pulmonary Tuberculosis Susceptibility
Murugesan Harishankar1, Paramasivam Selvaraj1, Ramalingam Bethunaickan1
1Department of Immunology, National Institute of Research in Tuberculosis, Chennai, India.
Host genetic factors influence tuberculosis (TB) susceptibility. Genome-wide association studies (GWAS) identify specific gene variants, like HLA-DRB1, linked to TB risk across diverse ethnic groups, aiding disease prediction.
Area of Science:
- Immunogenetics
- Human Genetics
- Infectious Disease Epidemiology
Background:
- Tuberculosis (TB) remains a significant global health threat.
- Host genetic factors play a crucial role in modulating immune responses and influencing susceptibility or resistance to TB.
- Previous studies have implicated various genetic markers, including human leukocyte antigen (HLA) and non-HLA genes, in TB development.
Purpose of the Study:
- To review and summarize recent findings on genetic variants associated with susceptibility and resistance to tuberculosis.
- To highlight the role of host genetics in understanding TB pathogenesis and ethnic-specific variations.
Main Methods:
- Review of case-control studies, candidate-gene studies, family studies, and genome-wide association studies (GWAS).
- Analysis of meta-analysis findings, particularly focusing on HLA alleles and specific gene associations.
- Examination of genetic markers in diverse ethnic populations worldwide.
Main Results:
- Meta-analyses confirm the association of HLA-DRB1 alleles with TB susceptibility, especially in Asian populations.
- GWAS studies have identified associations between TB and genes such as ASAP1, AGMO, FOXP1, UBLCP1, and SNP rs932347C/T in various ethnic groups.
- Ethnic-specific associations for certain genetic variants, like HLA-DR2, are observed, indicating population-dependent genetic influences on TB risk.
Conclusions:
- Host genetic factors, including specific HLA and non-HLA gene variants, are significantly associated with tuberculosis susceptibility and resistance.
- These genetic variations can influence immune responses and disease outcomes, with notable ethnic-specific patterns.
- Continued research into host genetics offers potential for improved TB risk prediction and personalized therapeutic strategies.
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