title: Single nucleotide polymorphisms in the interferon gamma gene are associated with distinct types of retinochoroidal scar lesions presumably caused by Toxoplasma gondii infection.
abstract: 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.
authors.affiliation: Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Brasil, Campos dos GoytacazesRJ, Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Campos dos Goytacazes, RJ, Brasil.
authors.forename: Ricardo Guerra
authors.initials: RG
authors.lastname: Peixe
authors.affiliation: Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Brasil, Campos dos GoytacazesRJ, Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Campos dos Goytacazes, RJ, Brasil.
authors.forename: Marcela Santana Bastos
authors.initials: MS
authors.lastname: Boechat
authors.affiliation: Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Brasil, Campos dos GoytacazesRJ, Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Campos dos Goytacazes, RJ, Brasil.
authors.forename: Alba Lucinia Peixoto
authors.initials: AL
authors.lastname: Rangel
authors.affiliation: Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Brasil, Campos dos GoytacazesRJ, Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Campos dos Goytacazes, RJ, Brasil.
authors.forename: Rhônia França Gomes
authors.initials: RF
authors.lastname: Rosa
authors.affiliation: Departamento de Genética, Universidade Federal do Paraná, Brasil, CuritibaPR, Departamento de Genética, Universidade Federal do Paraná, Curitiba, PR, Brasil.
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Petzl-Erler
authors.affiliation: Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Brasil, Campos dos GoytacazesRJ, Laboratório de Biologia do Reconhecer, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense, Campos dos Goytacazes, RJ, Brasil.
authors.forename: Lilian M G
authors.initials: LM
authors.lastname: Bahia-Oliveira
mesh_terms: D000328:Adult; D000953:Antigens, Protozoan / Q000276:immunology; D015862:Choroid Diseases / Q000469:parasitology*; D002921:Cicatrix / Q000469:parasitology*; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency / Q000276:immunology; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics* / Q000378:metabolism; D007963:Leukocytes, Mononuclear / Q000469:parasitology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012164:Retinal Diseases / Q000469:parasitology*; D012307:Risk Factors; D012720:Severity of Illness Index; D012959:Socioeconomic Factors; D014126:Toxoplasmosis, Ocular / Q000097:blood / Q000150:complications* / Q000276:immunology
chemical_list: D000953:Antigens, Protozoan; D007371:Interferon-gamma