Investigating the role of EMILIN1 Loss-of-Function variant (rs756288970) in aortic aneurysms and arterial tortuosity using FinnGen imaging and clinical data
04.12.2025
This project investigates the role of a rare genetic variants in the EMILIN1 gene in the development of aortic aneurysms and changes in arterial structure. EMILIN1 is important for maintaining the elasticity and stability of blood vessels. Using data from the FinnGen study, we will assess whether carriers of this variant show signs of vascular abnormalities, such as enlarged aorta or arterial tortuosity, based on imaging records and clinical data. The results could provide new insights into the genetic causes of aortic disease and help identify individuals at risk earlier.
