Zongsheng He, Arne S IJpma, Dianne Vreeken, Daphne Heijsman, Karen Rosier, Hence J M Verhagen, Jorg de Bruin, Hennie T Brüggenwirth, Jolien W Roos-Hesselink, Jos A Bekkers, Danny Huylebroeck, Heleen van Beusekom, John W M Creemers, Danielle Majoor-Krakauer
AIM: Aortic aneurysms (AA) frequently involve dysregulation of transforming growth factor β (TGF-β)-signaling in the aorta. Here, FURIN was tested as aneurysm predisposition gene given its role as proprotein convertase in pro-TGF-β maturation. METHODS AND RESULTS: Rare FURIN variants were detected by whole-exome sequencing of 781 unrelated aortic aneurysm patients and affected relatives. Thirteen rare heterozygous FURIN variants occurred in 3.7% (29) unrelated index AA patients, of which 72% had multiple aneurysms or a dissection...
April 18, 2024: Cardiovascular Research