Volume 8 Supplement 1

5th European Workshop on Immune-Mediated Inflammatory Diseases

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

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


Published: 25 November 2010


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


© Broen et al; licensee BioMed Central Ltd. 2010

This article is published under license to BioMed Central Ltd.