FURIN: A New Gene Linked to Aortic Aneurysms
Author Information
Author(s): Zongsheng He, Arne S. IJpma, Dianne Vreeken, Daphne Heijsman, Karen Rosier, Hence J.M. Verhagen, Jorg L. de Bruin, Hennie T. Brüggenwirth, Jolien W. Roos-Hesselink, Jos A. Bekkers, Danny Huylebroeck, John W.M. Creemers, Danielle Majoor-Krakauer
Primary Institution: Erasmus MC University Medical Center
Hypothesis
Is FURIN a genetic predisposition gene for aortic aneurysms affecting TGF-β signaling?
Conclusion
FURIN is identified as a frequent genetic predisposition for various types of aortic aneurysms by impairing TGF-β signaling.
Supporting Evidence
- FURIN variants were found in 3.7% of the aortic aneurysm patients studied.
- 72% of patients with FURIN variants had multiple aneurysms.
- Impaired TGF-β signaling was observed in patient-derived fibroblasts with FURIN variants.
- FURIN variants were linked to decreased levels of collagen and fibrillin in aortic tissue.
Takeaway
Scientists found a gene called FURIN that can make people more likely to have problems with their aorta, which is a big blood vessel in the body.
Methodology
Whole-exome sequencing was performed on 781 aortic aneurysm patients to identify rare FURIN variants.
Limitations
The study population size limited the identification of factors contributing to the polygenic effect of FURIN variants.
Participant Demographics
The study included 781 unrelated aortic aneurysm patients, with a mean age of 63 years at diagnosis.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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