IFNG +874 T>A Single Nucleotide Polymorphism is Associated with Leprosy Among Brazilians

Overview

Journal Hum Genet

Specialty Genetics

Date 2010 Aug 18

PMID 20714752

Citations 34

Authors

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

Affiliations

Soon will be listed here.

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 (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-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.

Citing Articles

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Li X, Ma Y, Li G, Jin G, Xu L, Li Y Front Immunol. 2024; 15:1298749.

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Association of CD209 (DC-SIGN) rs735240 SNV with paucibacillary leprosy in the Brazilian population and its functional effects.

Germano G, Braga A, Camargo R, Ballalai P, Bezerra O, Manta F Mem Inst Oswaldo Cruz. 2022; 117:e220014.

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Associations Between the Purinergic Receptor P2X7 and Leprosy Disease.

Souza R, Louvain de Souza T, Dos Santos Ferreira C, Nascimento L, Nahn Jr E, Peixoto-Rangel A Front Genet. 2021; 12:730991.

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A Study on the Impact of Genetic Polymorphisms of Cytokines TNFα, IFNγ and IL10 in South Indian Leprosy Patients.

Kolla V, Sultana S, Davala S, Valluri V Indian J Dermatol. 2021; 66(2):138-144.

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