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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression
Journal of Rheumatology, Volume 39, No. 1, Year 2012
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Description
Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology Copyright © 2012. All rights reserved.
Authors & Co-Authors
Dieudé, Philippe
France, Paris
Université Paris Cité
Vonk, Madelon C.
Netherlands, Nijmegen
Radboud University Medical Center
Beretta, Lorenzo
Italy, Bologna
Ospedale Maggiore
Carmona, Francisco David
Unknown Affiliation
Herrick, Ariane L.
United Kingdom, Salford
Salford Royal Nhs Foundation Trust
Hunzelmann, Nicolas
Germany, Koln
Universität zu Köln
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Kiener, Hans Peter
Austria, Vienna
Medizinische Universität Wien
Scorza, Raffaella
France, Paris
Université Paris Cité
Carreira-Delgado, Patricia E.
Spain, Madrid
Hospital Universitario 12 de Octubre
Ortego-Centeno, Norberto
Unknown Affiliation
González-Gay, Miguel Ángel
Unknown Affiliation
Airo’, Paolo
Italy, Brescia
Servizio Di Reumatologia e Immunologia Clinica
Coenen, Marieke J.H.
Netherlands, Nijmegen
Radboud University Medical Center
Martin, Javier
United Kingdom, Salford
Salford Royal Nhs Foundation Trust
Allanore, Yannick
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud University Medical Center
Statistics
Citations: 9
Authors: 17
Affiliations: 12
Identifiers
Doi:
10.3899/jrheum.110235
ISSN:
14992752
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Quantitative