Mammalian Genome

, Volume 22, Issue 1, pp 19–31

Leprosy as a genetic disease

Authors

  • Andrea Alter
    • Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of MedicineMcGill University
    • Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of Human GeneticsMcGill University
  • Audrey Grant
    • Laboratoire de Génétique des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale, U550
    • Faculté Médicine NeckerUniversité Paris René Descartes
  • Laurent Abel
    • Laboratoire de Génétique des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale, U550
    • Faculté Médicine NeckerUniversité Paris René Descartes
    • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller University
  • Alexandre Alcaïs
    • Laboratoire de Génétique des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale, U550
    • Faculté Médicine NeckerUniversité Paris René Descartes
    • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller University
    • Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of MedicineMcGill University
    • Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of Human GeneticsMcGill University
    • Montreal General Hospital Research Institute
Article

DOI: 10.1007/s00335-010-9287-1

Cite this article as:
Alter, A., Grant, A., Abel, L. et al. Mamm Genome (2011) 22: 19. doi:10.1007/s00335-010-9287-1

Abstract

Leprosy (Hansen’s disease) is a human infectious disease whose etiological agent, Mycobacterium leprae, was identified by G. H. A. Hansen in the 19th century. Despite the high efficacy of multidrug therapy (<0.1% annual relapse rate), transmission is persistent. In 2008, approximately 250,000 new cases were reported to the World Health Organization. Clinically, leprosy presents as either the paucibacillary (1–5 lesions) or the multibacillary (>5 lesions) subtype, highly reflective of a Th1 (cell-mediated) or Th2 (humoral) host immune response, respectively. Subsequent to Mycobacterium leprae exposure, epidemiological studies (e.g., twin studies and complex segregation analyses) maintain the importance of host genetics in susceptibility to leprosy. The results of genome-wide analyses (linkage and association) and candidate gene studies suggest an independent genetic control over both susceptibility to leprosy per se and development of clinical subtype. Moreover, the emergence of a shared genetic background between leprosy and several inflammatory/autoimmune diseases suggests that leprosy is a suitable model for studying the genetic architecture and subsequent pathogenesis of both infectious and inflammatory/autoimmune diseases. We provide the example of NOD2 (Crohn’s disease gene) and LTA (myocardial infarction gene) and the implication of a common genetic risk factor between these two diseases and leprosy. The value of leprosy as a model disease therefore extends far beyond this ancient disease to common afflictions of the 21st century.

Supplementary material

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Copyright information

© Springer Science+Business Media, LLC 2010