Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
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POSTER PRESENTATION
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Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development JCA Broen1*†, P Gourh2†, M C Vonk1†, L Beretta3, F Niederer4, B Rueda5, L Geurts-van Bon1, C Brouwer1, R Hesselstrand6, A Herrick7, J Worthington7, N Hunzelman8, C Denton9, C Fonseca9, G Riemekasten10, H Kiener11, R Scorza3, C P Simeon12, V Fonollosa12, P Carreira13, N Ortego-Centeno14, M A Gonzalez-Gay15, P Airò16, MJH Coenen17, M Mayes2, D Kyburz4, F C Arnett2†, J Martin5†, TRDJ Radstake1† From 5th European Workshop on Immune-Mediated Inflammatory Diseases Sitges-Barcelona, Spain. 1-3 December 2010 Aim Pre B-cell colony-enhancing factor (PBEF) is intricately involved in inflammation and fibrosis, functional polymorphisms of PBEF have been previously shown to influence PBEF expression and pulmonary damage. Systemic sclerosis (SSc) is a disease in which inflammation, fibrosis and pulmonary deterioration are prominent hallmarks. Therefore we here investigate the role of the PBEF -1001T>G and PBEF -1543C>T polymorphisms in the genetic predisposition to systemic sclerosis (SSc) susceptibility and pulmonary involvement. Patients and methods We genotyped DNA from 2737 SSc patients and 1913 matched healthy controls, both from 8 different ethnic populations. Genotyping was performed using custom Taqman 5´allelic discrimination assays. In addition, PBEF serum expression levels were measured by ELISA and correlated with genotypes. Results In two separate populations and in a meta-analysis, the combined PBEF -1543CC -1001TT genotype, hence carrying no minor alleles, was found associated with SSc susceptibility (P=0.009 OR 1.20 (95% CI 1.05-
† Contributed equally 1 Dept. of Rheumatology, Radboud University Nijmegen Medical Center, The Netherlands Full list of author information is available at the end of the article
1.37). In addition, these subjects showed an increased decline in forced vital capacity (FVC) over 15 years follow-up (P=0.02) (HR 1.64, 95%CI: 1.02-2.64) and a higher PBEF serum concentration (P
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