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Genetics of leprosy: expected and unexpected developments and perspectives
Monica E D Sauer1, Heloisa Salomão1, Geovana B Ramos1
1Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifical Catholic University of Paraná, Curitiba, Paraná, Brazil.
Clinics in Dermatology
|November 30, 2014
Summary
Host genetics significantly influence leprosy susceptibility and its clinical forms. Genome-wide studies reveal shared genetic factors with other diseases, paving the way for new therapeutic targets.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Leprosy phenotypes are strongly influenced by host genetic factors.
- Decades of research, including familial, twin, and segregation analyses, established a major gene effect on leprosy susceptibility.
Purpose of the Study:
- To review the genetic basis of leprosy phenotypes.
- To highlight advancements in identifying leprosy susceptibility genes.
- To discuss future directions in genetic research for leprosy treatment and prevention.
Main Methods:
- Review of evidence from familial aggregation, twin studies, Complex Segregation Analysis.
- Application of linkage and association analyses, including candidate gene studies and genome-wide scans.
- Utilization of hypothesis-free strategies like Genome-Wide Association Studies (GWAS).
Main Results:
- Multiple gene variants within and outside the leukocyte antigen complex are associated with leprosy risk and clinical forms.
- GWAS revealed shared leprosy susceptibility genes with Crohn's and Parkinson's diseases.
- Next Generation Sequencing (NGS) offers potential for identifying causative variants.
Conclusions:
- Host genetics play a crucial role in leprosy.
- Genetic discoveries are uncovering shared pathways with other complex diseases.
- Identifying specific causative variants and their functional effects is key for developing novel interventions for leprosy.
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