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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
|January 17, 2016
Summary
Host genetics significantly influence leprosy. Research identifies specific gene variants linked to disease susceptibility and forms, with shared genes found in Crohn's and Parkinson's disease.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Leprosy (Hansen's disease) phenotypes are strongly influenced by host genetic factors.
- Decades of research, including familial, twin, and segregation studies, established a major gene effect on leprosy susceptibility.
Purpose of the Study:
- To review the genetic basis of leprosy phenotypes.
- To highlight recent advances in identifying leprosy susceptibility genes and their implications.
Main Methods:
- Review of familial aggregation, twin, and segregation analyses.
- Application of linkage, association, and genome-wide association studies (GWAS).
- Discussion of Next Generation Sequencing (NGS) for variant identification.
Main Results:
- Numerous HLA and non-HLA gene variants identified as risk factors for leprosy, its clinical forms, and reactions.
- Genome-wide association studies reveal shared leprosy susceptibility genes with Crohn's and Parkinson's disease.
- Next Generation Sequencing offers potential for identifying causal variants.
Conclusions:
- Host genetics play a critical role in leprosy development and presentation.
- Understanding genetic risk factors is crucial for developing new treatment and prevention strategies.
- Shared genetic pathways with other complex diseases offer new avenues for research.
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