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Genetics of Leprosy

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Leprosy and Buruli Ulcer

Abstract

The description of host genetic risk factors improves our understanding of the biological mechanisms involved in the pathogenesis of infectious diseases. Typically, exposure to a pathogen is necessary but not sufficient to explain susceptibility to infection. This is particularly clear in leprosy, where Mycobacterium leprae presents low strain diversity, which does not explain the clinical heterogeneity of leprosy endophenotypes. This chapter explores the evidence supporting the contribution of HLA-linked and non-HLA genes in host susceptibility to leprosy as an infection per se, its clinical forms, and the occurrence of leprosy reactions. The chapter also discusses the prospective impact of recently developed methodologies for genetic analysis such as genome-wide sequencing and artificial intelligence-based bioinformatic tools. The chapter advances in the dissection of the genetic component controlling leprosy susceptibility, focusing on the description of the functional variants underlying the genetic associations. Finally, the latest developments on the genetics of Buruli ulcer—a disease for which the impact of host genetics is only beginning to be explored—are presented and discussed.

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Authors and Affiliations

  1. Graduate Program in Health Sciences, Pontifical Catholic University of Paraná, Curitiba, Paraná, Brazil

    Marcelo Távora Mira & Priscila Verchai Uaska Sartori

  2. Research Institute of the McGill University Health Centre, Montreal, QC, Canada

    Vinicius Medeiros Fava

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  1. Marcelo Távora Mira
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  2. Vinicius Medeiros Fava
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  3. Priscila Verchai Uaska Sartori
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Correspondence to Marcelo Távora Mira .

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Editors and Affiliations

  1. Departamento de Dermatología, Universidad Técnica Particular de Loja, Loja, Ecuador

    Enrico Nunzi

  2. Dermatoloy Unit & Scientific Coordinator, Galliera Hospital, Genova, Italy

    Cesare Massone

  3. Mycobacteriology Department, Institute of Tropical Medicine Antwerp, Antwerpen, Belgium

    Françoise Portaels

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Mira, M.T., Fava, V.M., Sartori, P.V.U. (2022). Genetics of Leprosy. In: Nunzi, E., Massone, C., Portaels, F. (eds) Leprosy and Buruli Ulcer. Springer, Cham. https://doi.org/10.1007/978-3-030-89704-8_3

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