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Approved Research

Genetics of aortic aneurysms

Principal Investigator: Dr Arne IJpma
Approved Research ID: 87873
Approval date: August 9th 2022

Lay summary

Aortic aneurysms resulting from a weakening of the aorta wall is caused by both genetic changes in aneurysm genes and risk factors such as aging, gender, smoking, and hypertension. At present, all known aneurysm genes explain less than 5% of aorta aneurysms. Finding novel genetic predispositions for aneurysms may therefor help to identify risk profiles for patients and their relatives, both male and female. With our research we want to identify which genes are contributing to the development of  aortic aneurysms. Our aim is to identify novel aortic aneurysm genes through analysis of sequencing data.  We have genetic information (DNA sequencing) for 1059 aorta aneurysm patients.  We want to use a selection of the UK biobank as a control population for our aorta aneurysm cohort. This allows to perform a 'burden' analysis which will generate a set of genes with increased risk for developing aortic aneurysms. The project will have a duration of 36 months.  By generating the risk profile for increased risk for aortic aneurysms, this research will have a significant impact on the clinical management of aneurysm patients and their relatives as it will improve the identification of family members at high risk for development of an aneurysm.