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  • Poster presentation
  • Open Access

Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with Systemic Sclerosis and do not influence gene expression

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Contributed equally
Journal of Translational Medicine20108 (Suppl 1) :P47

  • Published:


  • Gene Expression
  • Dendritic Cell
  • Receptor Gene
  • Gene Expression Level
  • Systemic Sclerosis


Polymorphisms in the interleukin 4 (IL4), interleukin 13 (IL13) and their corresponding receptors have previously been found associated with systemic sclerosis (SSc). In this study we aim to validate these previous observations and scrutinize their effects on gene expression.

Patients and methods

We genotyped a cohort consisting of 1902 systemic sclerosis patients and 1503 healthy controls, derived from France, The Netherlands, Spain, United Kingdom, Italy and Germany. Taqman assays were used for genotyping three SNPs correlating with IL-4 and receptor; interleukin 4 alpha receptor Q576R (rs1801275), interleukin 4 RI75V (rs1805010), and −590C/T (rs2243250). In the Il-13 gene the following SNPs were genotyped; R130Q (rs20541), (-1112C/T), rs1800925 and rs6646259 (base 43163:G/A). In addition, we investigated the effect of these polymorphisms on corresponding gene expression with RT-PCR in B cells, T cells, plasmacytoid dendritic cells, monocytes and myeloid dendritic cells.


None of these polymorphisms was found to be enriched in the SSc population or in any SSc clinical subtype. In addition, we did not observe an effect on expression levels in the cell subtypes.


Our data show that these polymorphisms do not play a role in SSc and do not influence gene expression levels.


Authors’ Affiliations

Dept. of Rheumatology, Radboud University Nijmegen Medical Center, The Netherlands
Université Diderot Paris 7, Service de Rhumatologie, Hospital Bichat Claude Bernard, Paris, France
Referral Center for Systemic Autoimmune Diseases, University of Milan, Italy
Instituto de Parasitología y Biomedicina, CSIC, Granada, Spain
Rheumatic Diseases Centre, University of Manchester, Salford Royal NHS Foundation Trust, UK
Dept. of Dermatology, University of Cologne, Germany
Dept. of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz institute, Germany
Dept. of Internal Medicine, Division of Rheumatology, University of Vienna, Austria
Servicio de Medicina Interna, Hospital Vall d’Hebron, Barcelona, Spain
Servicio de Reumatologia, Hospital 12 de Octubre, Madrid, Spain
Servicio de Medicina Interna, Hospital Xeral-Calde, Lugo, Spain
Servicio de Reumatologia, Hospital Marques de Valdecillas, Santander, Spain
Servizio di Reumatologia ed Immunologia Clinica, Spedali Civili, Brescia, Italia
Dept. of Human Genetics, Radboud University Nijmegen Medical Center, The Netherlands
Dept. of Immunology and Infectious Diseases, Harvard School of Public Health, Boston, MA, USA
Université Paris Descartes, INSERM U781, Hôpital Necker, Paris, France and Université Paris Descartes, Service de Rhumatologie A, Hôpital Cochin, Paris, France


© Broen et al; licensee BioMed Central Ltd. 2010

This article is published under license to BioMed Central Ltd.