Human Genetics

, Volume 128, Issue 5, pp 481–490

IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians

  • C. C. Cardoso
  • A. C. Pereira
  • V. N. Brito-de-Souza
  • I. M. Dias-Baptista
  • V. C. Maniero
  • J. Venturini
  • F. R. Vilani-Moreno
  • F. C. de Souza
  • M. Ribeiro-Alves
  • E. N. Sarno
  • A. G. Pacheco
  • M. O. Moraes
Original Investigation

DOI: 10.1007/s00439-010-0872-x

Cite this article as:
Cardoso, C.C., Pereira, A.C., Brito-de-Souza, V.N. et al. Hum Genet (2010) 128: 481. doi:10.1007/s00439-010-0872-x

Abstract

Leprosy is a chronic infectious disease caused by Mycobacterium leprae, a low virulence mycobacterium, and the outcome of disease is dependent on the host genetics for either susceptibility per se or severity. The IFNG gene codes for interferon-γ (IFN-γ), a cytokine that plays a key role in host defense against intracellular pathogens. Indeed, single nucleotide polymorphisms (SNPs) in IFNG have been evaluated in several genetic epidemiological studies, and the SNP +874T>A, the +874T allele, more specifically, has been associated with protection against infectious diseases, especially tuberculosis. Here, we evaluated the association of the IFNG locus with leprosy enrolling 2,125 Brazilian subjects. First, we conducted a case–control study with subjects recruited from the state of São Paulo, using the +874 T>A (rs2430561), +2109 A>G (rs1861494) and rs2069727 SNPs. Then, a second study including 1,370 individuals from Rio de Janeiro was conducted. Results of the case–control studies have shown a protective effect for +874T carriers (ORadjusted = 0.75; p = 0.005 for both studies combined), which was corroborated when these studies were compared with literature data. No association was found between the SNP +874T>A and the quantitative Mitsuda response. Nevertheless, the spontaneous IFN-γ release by peripheral blood mononuclear cells was higher among +874T carriers. The results shown here along with a previously reported meta-analysis of tuberculosis studies indicate that the SNP +874T>A plays a role in resistance to mycobacterial diseases.

Supplementary material

439_2010_872_MOESM1_ESM.doc (116 kb)
Supplementary material 1 (DOC 116 kb)

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • C. C. Cardoso
    • 1
  • A. C. Pereira
    • 2
  • V. N. Brito-de-Souza
    • 2
  • I. M. Dias-Baptista
    • 2
  • V. C. Maniero
    • 1
  • J. Venturini
    • 2
    • 3
  • F. R. Vilani-Moreno
    • 2
  • F. C. de Souza
    • 2
  • M. Ribeiro-Alves
    • 1
  • E. N. Sarno
    • 1
  • A. G. Pacheco
    • 4
  • M. O. Moraes
    • 1
  1. 1.Laboratório de HanseníaseInstituto Oswaldo Cruz, FIOCRUZRio de JaneiroBrazil
  2. 2.Instituto Lauro de Souza LimaBauruBrazil
  3. 3.Tropical Diseases Area, Botucatu Medical SchoolSao Paulo State University, UNESPBotucatuBrazil
  4. 4.Programa de Computação CientíficaPROCC, FIOCRUZRio de JaneiroBrazil

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