Single nucleotide polymorphisms in the interferon gamma gene are associated with distinct types of retinochoroidal scar lesions presumably caused by Toxoplasma gondii infection

The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ gene (IFNG) with different types of retinal scar lesions presumably caused by toxoplasmosis were investigated in a cross-sectional population-based genetic study. Ten SNPs were investigated and after Bonferroni corre...

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Published in:	Memórias do Instituto Oswaldo Cruz Vol. 109; no. 1; pp. 99 - 107
Main Authors:	Peixe, Ricardo Guerra, Boechat, Marcela Santana Bastos, Rangel, Alba Lucinia Peixoto, Rosa, Rhônia França Gomes, Petzl-Erler, Maria Luiza, Bahia-Oliveira, Lilian MG
Format:	Journal Article
Language:	English
Published:	Brazil Fundação Oswaldo Cruz, Fiocruz 01-02-2014 Instituto Oswaldo Cruz, Ministério da Saúde Fundação Oswaldo Cruz (FIOCRUZ)
Subjects:	Adult Antigens, Protozoan - immunology Choroid Diseases - parasitology Cicatrix - parasitology Cross-Sectional Studies Female Gene Frequency - immunology Genetic Association Studies Genotype Humans IFN- γ - Toxoplasma gondii IFN-γ Interferon-gamma - genetics Interferon-gamma - secretion Leukocytes, Mononuclear - parasitology Male Middle Aged PARASITOLOGY Phenotype Polymorphism, Single Nucleotide - genetics Retinal Diseases - parasitology retinochoroiditis Risk Factors Severity of Illness Index single-nucleotide polymorphisms Socioeconomic Factors Toxoplasma gondii Toxoplasmosis, Ocular - blood Toxoplasmosis, Ocular - complications Toxoplasmosis, Ocular - immunology TROPICAL MEDICINE uveitis IFN- γ - Toxoplasma gondii retinochoroiditis uveitis single-nucleotide polymorphisms
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Summary:	The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ gene (IFNG) with different types of retinal scar lesions presumably caused by toxoplasmosis were investigated in a cross-sectional population-based genetic study. Ten SNPs were investigated and after Bonferroni correction, only the associations between SNPs rs2069718 and rs3181035 with retinal/retinochoroidal scar lesions type A (most severe scar lesions) and C (least severe scar lesions), respectively, remained significant. The associations of two different IFNG SNPs with two different types of retinal lesions attributable to toxoplasmosis support the hypothesis that different inflammatory mechanisms underlie the development of these lesions. The in vitro analysis of IFN-γ secretion by peripheral blood mononuclear cells stimulated with Toxoplasma gondii antigens was also investigated. The association between SNP rs2069718 and type A scar lesions revealed that differential IFN-γ levels are correlated with distinct genotypes. However, no correlation was observed with IFN-γ secretion levels and the SNP rs3181035, which was significantly associated with type C scar lesions. Our findings strongly suggest that immunogenetic studies of individuals with congenital or postnatally acquired infection are needed to better understand the role of IFN-γ and its polymorphisms in the pathogenesis of ocular toxoplasmosis.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Financial support: FAPERJ (E-26/110.869/2009, E-26/111.305/2010, E-26/111.816/2013)
ISSN:	1678-8060 0074-0276 1678-8060 0074-0276
DOI:	10.1590/0074-0276140539