Published in:
Open Access
01-11-2010 | Poster presentation
Variants of PBEF predispose to systemic sclerosis and pulmonary arterial hypertension development
Authors:
JCA Broen, P Gourh, M C Vonk, L Beretta, F Niederer, B Rueda, L Geurts-van Bon, C Brouwer, R Hesselstrand, A Herrick, J Worthington, N Hunzelman, C Denton, C Fonseca, G Riemekasten, H Kiener, R Scorza, C P Simeon, V Fonollosa, P Carreira, N Ortego-Centeno, M A Gonzalez-Gay, P Airò, MJH Coenen, M Mayes, D Kyburz, F C Arnett, J Martin, TRDJ Radstake
Published in:
Journal of Translational Medicine
|
Special Issue 1/2010
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Excerpt
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. …
