AUTHOR=Goos Tinne , Verleden Stijn E. , De Sadeleer Laurens J. , Van Herck Anke , Sacreas Annelore , Vanstapel Arno , Kaes Janne , Geudens Vincent , Aelbrecht Celine , Ruttens David , Lambrechts Diether , Vermeer Sascha , Ceulemans Laurens J. , Van Raemdonck Dirk E. , Godinas Laurent , Yserbyt Jonas , Vanaudenaerde Bart M. , Verleden Geert M. , Vos Robin , Wuyts Wim A.
TITLE=The MUC5B Promoter Polymorphism is Not Associated With Non-ILD Chronic Respiratory Diseases or Post-transplant Outcome
JOURNAL=Transplant International
VOLUME=35
YEAR=2022
URL=https://www.frontierspartnerships.org/journals/transplant-international/articles/10.3389/ti.2022.10159
DOI=10.3389/ti.2022.10159
ISSN=1432-2277
ABSTRACT=
The MUC5B promoter polymorphism (rs35705950) has been associated with interstitial lung disease (ILD) and with prolonged pre-transplant survival in idiopathic pulmonary fibrosis (IPF), but no information is available regarding its prevalence in other respiratory diseases and its influence on post-transplant outcome. We included the Leuven lung transplantation cohort between 1991 and 2015 (n = 801). We assessed the minor allele frequency (MAF) of the MUC5B variant in the entire study cohort and investigated the influence of recipient MUC5B promoter polymorphism on post-transplant outcome in patients who were transplanted after 2004. MUC5B was successfully genotyped in 746 patients. The MAF was significantly higher in ILD (17.6%) compared to chronic obstructive pulmonary disease (COPD)/emphysema (9.3%), cystic fibrosis (CF)/bronchiectasis (BRECT) (7.5%) and pulmonary hypertension (PHT) (7.4%) (p < 0.001). No association was observed between rs35705950 and chronic lung allograft dysfunction (CLAD)/graft loss in the ILD population [CLAD: HR 1.37 95% CI (0.70–2.68); graft loss: HR 1.02 95% CI (0.55–1.89)], nor the entire study cohort [CLAD: HR 0.96 95% CI (0.69–1.34); graft loss: HR 0.97 95% CI (0.70-1.35)]. The MUC5B promoter polymorphism is a very specific predictive factor for the presence of pulmonary fibrosis as it is only associated with pulmonary fibrosis and not with other chronic respiratory diseases. While the MUC5B promoter variant is associated with better pre-transplant survival among IPF patients, recipient MUC5B promoter variant does not play a role in post-transplant outcome.