Interferon-gamma gene polymorphisms associated with susceptibility to systemic lupus erythematosus

Kim, Kwang-Woo; Cho, Soo-Kyung; Sestak, Andrea L.; Namjou, Bahram; Kang, Changwon; Bae, Sang Cheol

doi:10.1136/ard.2009.117572

Cited by 80 publications

(73 citation statements)

References 17 publications

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“…Likewise, we hypothesized that IL8 rs2227307 and IL12B rs3212227 intronic polymorphisms affect alternative splicing of IL8 and IL12B mRNA and even alter mRNA expression, thereby dysregulating IL8-and IL12-mediated Th1 immune responses against fungal pathogens. In line with these arguments, a number of previous studies have reported associations of these polymorphisms with immune-related diseases (55,56) and infections (57)(58)(59)(60), including IA (45). In particular, we confirmed an association previously reported by Mezger (45).…”

Section: Discussionsupporting

confidence: 81%

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium

Lupiañez¹,

Canet

Carvalho

et al. 2016

Infect Immun

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pRecent studies suggest that immune-modulating single-nucleotide polymorphisms (SNPs) influence the risk of developing cancer-related infections. Here, we evaluated whether 36 SNPs within 14 immune-related genes are associated with the risk of invasive aspergillosis (IA) and whether genotyping of these variants might improve disease risk prediction. We conducted a case-control association study of 781 immunocompromised patients, 149 of whom were diagnosed with IA. Association analysis showed that the IL4R rs2107356 and IL8 rs2227307 SNPs (using dbSNP numbering) were associated with an increased risk of IA (IL4R rs2107356 odds ؊4 and P 50.000 permutation test ‫؍‬ 9.34 · 10 ؊5 ). These findings suggest that the IFN␥ rs2069705 SNP influences the risk of IA and that predictive models built with IFN␥, IL8, IL12p70, and VEGFA variants can used to predict disease risk and to implement risk-adapted prophylaxis or diagnostic strategies.

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Section: Discussionsupporting

confidence: 81%

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium

Lupiañez¹,

Canet

Carvalho

et al. 2016

Infect Immun

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“…This could imply that augmented IFNG expression might increase disease susceptibility. 13 Variants in some cytokines' genes are linked to modification of the risk in development of non-Hodgkin lymphoma (NHL), such as the influence of environmental factors like organochlorine exposure. Associations between studied exposures and NHL risk were limited to genotype including that of the IFNG gene (C-1615T) TT and IL4 (5 ′ -UTR, Ex1-168C>T) CC.…”

Section: Association With Human Diseasesmentioning

confidence: 99%

Cytokines of the Immune System

Dembić

2015

The Cytokines of the Immune System

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“…Dado que este polimorfismo ya había sido relacionado con la gravedad de otras enfermedades infecciosas (54,55), se cree que también tiene implicaciones en la malformación de megacariocitos y la diferenciación en plaquetas, predisponiendo a la trombocitopenia, como ocurre con otras fiebres hemorrágicas (56).…”

Section: Discussionunclassified

Variants in the TNFA, IL6 and IFNG genes are associated with the dengue severity in a sample from Colombian population

et al. 2017

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Introducción. La composición genética del huésped determina, entre otros aspectos, el perfil clínico del dengue, lo cual se debería al efecto de variantes en los genes que codifican citocinas proinflamatorias.Objetivo. Evaluar la asociación entre las variantes de tres polimorfismos en los genes candidatos TNFA, IL6 e IFNG con la gravedad del dengue en una población colombiana.Materiales y métodos. Se evaluaron los polimorfismos rs1800750, rs2069843 y rs2069705 de los genes TNFA, IL6 e IFNG, respectivamente, en 226 pacientes con dengue. Los genotipos se tipificaron usando la reacción en cadena de la polimerasa (PCR) y los polimorfismos de la longitud de los fragmentos de restricción (Restriction Fragment Length Polymorphism, RFLP). Para determinar el riesgo de diferentes fenotipos del dengue, se compararon las frecuencias alélicas con la prueba de ji al cuadrado, y los genotipos y los haplotipos, con regresión logística. Por último, los análisis se ajustaron utilizando datos de autoidentificación o del componente genético ancestral.Resultados. El alelo A del rs2069843, ajustado por autoidentificación, se asoció con casos de dengue hemorrágico en afrocolombianos. En la muestra completa, dicho polimorfismo, ajustado por componente genético ancestral, fue reproducible. Además, hubo asociaciones significativas entre las combinaciones alélicas GGT y GAC de los rs1800750, rs2069843 y rs2069705 en pacientes con dengue hemorrágico, con ajuste por componente genético ancestral y sin él. Además, la combinación alélica AGC produjo 58,03 pg/ml más de interleucina 6 que la GGC, independientemente de los componentes genéticos europeo, amerindio y africano.Conclusión. Las variantes de los polimorfismos GGT y GAC de los rs1800750, rs2069843 y rs2069705 en los genes TNFA, IL6 e IFNG, respectivamente, se correlacionaron con la gravedad del dengue en esta muestra de población colombiana.

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Interferon-gamma gene polymorphisms associated with susceptibility to systemic lupus erythematosus

Cited by 80 publications

References 17 publications

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium

Cytokines of the Immune System

Variants in the TNFA, IL6 and IFNG genes are associated with the dengue severity in a sample from Colombian population

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