This article is part of the supplement: 5th European Workshop on Immune-Mediated Inflammatory Diseases

Open Access Open Badges Poster presentation

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

JCA Broen1*, P Dieude2, M C Vonk1, L Beretta3, B Rueda4, A Herrick5, J Worthington5, N Hunzelmann6, G Riemekasten7, H Kiener8, R Scorza3, C P Simeon9, V Fonollosa9, P Carreira10, N Ortego-Centeno11, M A Gonzalez-Gay12, P Airò13, MJH Coenen14, A Aliprantis15, J Martin4, Y Allanore16 and TRDJ Radstake1

  • * Corresponding author: JCA Broen

  • † Equal contributors

Author Affiliations

1 Dept. of Rheumatology, Radboud University Nijmegen Medical Center, The Netherlands

2 Université Diderot Paris 7, Service de Rhumatologie, Hospital Bichat Claude Bernard, Paris, France

3 Referral Center for Systemic Autoimmune Diseases, University of Milan, Italy

4 Instituto de Parasitología y Biomedicina, CSIC, Granada, Spain

5 Rheumatic Diseases Centre, University of Manchester, Salford Royal NHS Foundation Trust, UK

6 Dept. of Dermatology, University of Cologne, Germany

7 Dept. of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz institute

8 Dept. of Internal Medicine, Division of Rheumatology, University of Vienna, Austria

9 Servicio de Medicina Interna, Hospital Vall d’Hebron, Barcelona, Spain

10 Servicio de Reumatologia, Hospital 12 de Octubre, Madrid, Spain

11 Servicio de Medicina Interna, Hospital Xeral-Calde, Lugo, Spain

12 Servicio de Reumatologia, Hospital Marques de Valdecillas, Santander, Spain

13 Servizio di Reumatologia ed Immunologia Clinica, Spedali Civili, Brescia, Italia

14 Dept. of Human Genetics, Radboud University Nijmegen Medical Center, The Netherlands

15 Dept. of Immunology and Infectious Diseases, Harvard School of Public Health, Boston, MA, USA

16 Université Paris Descartes, INSERM U781, Hôpital Necker, Paris, France and Université Paris Descartes, Service de Rhumatologie A, Hôpital Cochin, Paris, France

For all author emails, please log on.

Journal of Translational Medicine 2010, 8(Suppl 1):P47  doi:10.1186/1479-5876-8-S1-P47

The electronic version of this article is the complete one and can be found online at:

Published:25 November 2010

© 2010 Broen et al; licensee BioMed Central Ltd.


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.