Genetics of leprosy: Expected-and unexpected-developments and perspectives

Clinics in Dermatology
Monica E D SauerMarcelo T Mira

Abstract

A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and complex segregation analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several HLA and non-HLA gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms, and leprosy reactions. In addition, powerful, hypothesis-free strategies such as genome-wide association studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's disease. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing-that allows, for the first time, the cost- and time-effective sequencing of a complete human genome-hold the promise to reveal such variants; thus, strategies can be developed to study ...Continue Reading

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Citations

Jan 17, 2016·Clinics in Dermatology·Andrzej Grzybowski, Marcos Virmond
Dec 28, 2016·Annals of Human Genetics·Maribel Aguilar-MedinaRosalío Ramos-Payán
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Oct 17, 2017·JBI Database of Systematic Reviews and Implementation Reports·Silvana Margarida Benevides FerreiraCassia Baldini Soares
Nov 27, 2020·International Reviews of Immunology·Luis Alberto Ribeiro FroesMirian Nacagami Sotto
Apr 2, 2020·Journal of the American Academy of Dermatology·Mayra B C MaymoneCory A Dunnick

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