PT  - JOURNAL ARTICLE
AU  - Jasper C.A. Broen
AU  - Phillipe Dieude
AU  - Madelon C. Vonk
AU  - Lorenzo Beretta
AU  - Francisco D. Carmona
AU  - Ariane Herrick
AU  - Jane Worthington
AU  - Nicholas Hunzelmann
AU  - Gabriela Riemekasten
AU  - Hans Kiener
AU  - Rafaella Scorza
AU  - Carmen P. Simeon
AU  - Vicent Fonollosa
AU  - Patricia Carreira
AU  - Norberto Ortego-Centeno
AU  - Miguel A. Gonzalez-Gay
AU  - Paolo Airo
AU  - Marieke J. Coenen
AU  - Kelly Tsang
AU  - Antonios O. Aliprantis
AU  - Javier Martin
AU  - Yannick Allanore
AU  - Timothy R.D.J. Radstake
TI  - Polymorphisms in the Interleukin 4, Interleukin 13, and Corresponding Receptor Genes Are Not Associated with Systemic Sclerosis and Do Not Influence Gene Expression
AID  - 10.3899/jrheum.110235
DP  - 2011 Nov 01
TA  - The Journal of Rheumatology
PG  - jrheum.110235
4099  - http://www.jrheum.org/content/early/2011/10/28/jrheum.110235.short
4100  - http://www.jrheum.org/content/early/2011/10/28/jrheum.110235.full
AB  - 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.