Mammalian Genome

, Volume 22, Issue 1–2, pp 19–31 | Cite as

Leprosy as a genetic disease

  • Andrea Alter
  • Audrey Grant
  • Laurent Abel
  • Alexandre Alcaïs
  • Erwin Schurr


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.


Human Leukocyte Antigen Leprosy Human Leukocyte Antigen Class Mycobacterium Avium Subspecies Paratuberculosis Wellcome Trust Case Control Consortium 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



A. Alcaïs was supported the Agence Nationale de la Recherche (ANR) of the Ministere Francais de l’Education Nationale de la Recherche et de la Technologie. A. Grant was supported in part by the Fondation pour la Recherche Médicale (FRM). Work in the laboratories of the authors was supported by grants from the Canadian Institutes of Health Research and MAGRALEPRE from the l’Ordre de Malte. E. Schurr is a Chercheur National du Fonds de la Recherche en Santé du Québec and an International Research Scholar of the Howard Hughes Medical Institute.

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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Andrea Alter
    • 1
    • 2
  • Audrey Grant
    • 3
    • 4
  • Laurent Abel
    • 3
    • 4
    • 5
  • Alexandre Alcaïs
    • 3
    • 4
    • 5
  • Erwin Schurr
    • 1
    • 2
    • 6
  1. 1.Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of MedicineMcGill UniversityMontrealCanada
  2. 2.Research Institute of the McGill University Health Centre, McGill Centre for the Study of Host Resistance, Department of Human GeneticsMcGill UniversityMontrealCanada
  3. 3.Laboratoire de Génétique des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale, U550ParisFrance
  4. 4.Faculté Médicine NeckerUniversité Paris René DescartesParisFrance
  5. 5.St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  6. 6.Montreal General Hospital Research InstituteMontrealCanada

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