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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus
Human Molecular Genetics, Volume 18, No. 19, Year 2009
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Description
Interleukin-18 (IL-18) is a proinflammatory cytokine that plays an important role in chronic inflammation and autoimmune disorders. In this study, we aimed to determine the potential role of the IL18 gene in SLE. To define the genetic association of the IL18 and SLE, we have genotyped nine SNPs in an independent set of Spanish cases and controls. The IL18 polymorphisms were genotyped by PCR, using a predeveloped TaqMan allele discrimination assay. Two SNPs were still significant after fine mapping of the IL18 gene. The SNP (rs360719) surviving correction for multiple tests was genotyped in two replication cohorts from Italy and Argentina. After the analysis, a significance with rs360719 C-allele remained across the sets and after the meta-analysis (Pooled OR 5 1.37, 95% CI 1.21-1.54, combined P 5 3.8E-07, Pc 5 1.16E-06). Quantitative real-time PCR was performed to assess IL18 mRNA expression in PBMC from subjects with different IL18 rs360719 genotypes. We tested the effect of the IL18 rs360719 polymorphism on the transcription of IL18 by electrophoretic mobility shift assay and western blot. We found a significant increase in the relative expression of IL18 mRNA in individuals carrying the rs360719 C-risk allele; in addition we show that the polymorphism creates a binding site for the transcriptional factor OCT-1. These findings suggest that the novel IL18 rs360719 variant may play an important role in determining the susceptibility to SLE and it could be a key factor in the expression of the IL18 gene. © The Author 2009. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Palomino-Morales, Rogelio Jesús
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Ortego-Centeno, Norberto
Spain, Granada
Hospital Universitario San Cecilio
González-Gay, Miguel Ángel
Spain, Lugo
Complejo Hospitalario Xeral Calde
Lõpez-Nevot, Miguel Ángel
Spain, Granada
Complejo Hospitalario Universitario de Granada
Sánchez-Román, Julio
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
de Rámon, Enrique
Unknown Affiliation
Gónzalez-Escribano, María Francisca
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
D’Alfonso, Sandra
Italy, Vercelli
Università Degli Studi Del Piemonte Orientale Amedeo Avogadro
Sebastiani, Gian Domenico
Italy, Rome
Azienda Ospedaliera San Camillo Forlanini
Alarcón-Riquelme, Marta Eugenia
Sweden, Uppsala
Uppsala Universitet
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Allievi, Alberto
Unknown Affiliation
Tate, Guillermo Alberto
Unknown Affiliation
Alvarellos, Alejandro J.
Argentina, Cordoba
Hospital Privado Centro Medico de Cordoba
Soriano, Enrique R.
Unknown Affiliation
Marcos, Juan Carlos
Argentina, La Plata
Hospital Interzonal General de Agudos de la Plata
Galeazzi, Mauro
Italy, Siena
Università Degli Studi Di Siena
Danieli, Maria Giovanna
Italy, Ancona
Università Politecnica Delle Marche
Statistics
Citations: 52
Authors: 18
Affiliations: 21
Identifiers
Doi:
10.1093/hmg/ddp301
ISSN:
14602083
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Quantitative
Systematic review