1479-5876-8-S1-P47 1479-5876 Poster presentation <p>Polymorphisms in the interleukin 4, interleukin 13 and corresponding receptor genes are not associated with Systemic Sclerosis and do not influence gene expression</p> Broen JCA Dieude P Vonk C M Beretta L Rueda B Herrick A Worthington J Hunzelmann N Riemekasten G Kiener H Scorza R Simeon P C Fonollosa V Carreira P Ortego-Centeno N Gonzalez-Gay A M Airò P Coenen MJH Aliprantis A Martin J Allanore Y Radstake TRDJ

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

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

 Journal of Translational Medicine <p>5th European Workshop on Immune-Mediated Inflammatory Diseases</p> Ricardo Pujol-Borrell and Dominique L Baeten Meeting abstracts - A single PDF containing all abstracts in this Supplement is available here. http://www.biomedcentral.com/content/pdf/1479-5876-8-S1-info.pdf <p>5th European Workshop on Immune-Mediated Inflammatory Diseases</p> Sitges-Barcelona, Spain 1-3 December 2010 http://www.ewimid.com/ 1479-5876 2010 8 Suppl 1 P47 http://www.translational-medicine.com/content/8/S1/P47 10.1186/1479-5876-8-S1-P47 25 11 2010 2010 Broen et al; licensee BioMed Central Ltd.

Aim

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.

Results

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.

Conclusions

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