Interferon-gamma receptor-1 gene promoter polymorphisms and susceptibility to leprosy in children of a single family

Am J Trop Med Hyg. 2011 Apr;84(4):627-9. doi: 10.4269/ajtmh.2011.10-0515.

Abstract

The autosomal recessive disorder, because of a single mutation in interferon-γ receptor-1(IFNGR1) at position -56, was found to be associated with susceptibility to leprosy in children of the same family. The existence of such heterozygous carriers might explain the crucial role of IFNGR1 in the host defense against intracellular pathogens such as Mycobacterium leprae. The single nucleotide polymorphisms (SNPs) in major candidate genes, i.e., natural resistance-associated macrophage protein 1 (NRAMP1), vitamin D receptor (VDR), tumor necrosis factor-alpha (TNF-α), interleukin-10 (IL-10), interleukin-12-receptor 1 (IL-12R1), were not found to be associated with this disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Clofazimine / therapeutic use
  • Family
  • Genetic Predisposition to Disease*
  • Humans
  • Interferon gamma Receptor
  • Leprostatic Agents / therapeutic use
  • Leprosy / genetics*
  • Male
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*
  • Receptors, Interferon / genetics*
  • Rifampin / therapeutic use

Substances

  • Leprostatic Agents
  • Receptors, Interferon
  • Clofazimine
  • Rifampin