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

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dc.contributor.authorCardoso, C. C.
dc.contributor.authorPereira, A. C.
dc.contributor.authorBrito-de-Souza, V. N.
dc.contributor.authorDias-Baptista, I. M.
dc.contributor.authorManiero, V. C.
dc.contributor.authorVenturini, J. [UNESP]
dc.contributor.authorVilani-Moreno, F. R.
dc.contributor.authorSouza, F. C.
dc.contributor.authorRibeiro-Alves, M.
dc.contributor.authorSarno, E. N.
dc.contributor.authorPacheco, A. G.
dc.contributor.authorMoraes, M. O.
dc.contributor.institutionFiocruz MS
dc.contributor.institutionInst Lauro Souza Lima
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T15:32:15Z
dc.date.available2014-05-20T15:32:15Z
dc.date.issued2010-11-01
dc.description.abstractLeprosy 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-gamma (IFN-gamma), 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 So 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 (OR(adjusted) = 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-gamma 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.en
dc.description.affiliationFiocruz MS, Inst Oswaldo Cruz, Lab Hanseniase, BR-21040360 Rio de Janeiro, RJ, Brazil
dc.description.affiliationInst Lauro Souza Lima, São Paulo, Brazil
dc.description.affiliationSão Paulo State Univ, UNESP, Botucatu Med Sch, Botucatu, SP, Brazil
dc.description.affiliationFiocruz MS, PROCC, Programa Comp Cient, Rio de Janeiro, Brazil
dc.description.affiliationUnespSão Paulo State Univ, UNESP, Botucatu Med Sch, Botucatu, SP, Brazil
dc.format.extent481-490
dc.identifierhttp://dx.doi.org/10.1007/s00439-010-0872-x
dc.identifier.citationHuman Genetics. New York: Springer, v. 128, n. 5, p. 481-490, 2010.
dc.identifier.doi10.1007/s00439-010-0872-x
dc.identifier.issn0340-6717
dc.identifier.urihttp://hdl.handle.net/11449/41204
dc.identifier.wosWOS:000283094100002
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofHuman Genetics
dc.relation.ispartofjcr3.930
dc.relation.ispartofsjr2,740
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.titleIFNG +874 T > A single nucleotide polymorphism is associated with leprosy among Braziliansen
dc.typeArtigo
dcterms.licensehttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dcterms.rightsHolderSpringer
unesp.author.orcid0000-0003-3095-1774[11]
unesp.author.orcid0000-0003-2653-0037[12]
unesp.author.orcid0000-0003-0129-2159[10]
unesp.author.orcid0000-0002-4963-769X[3]
unesp.author.orcid0000-0002-8663-3364[9]
unesp.author.orcid0000-0003-0035-2439[6]

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