18 December 2017

Lecture Judith Marsman - December 18, 2017






Date December 18, 2017 from 15.00 hr to 16.00 hr


Location: AZM - Greepzaal (Ruimte: 4.E2.020)


 Name invited speaker: Judith Marsman

Dunedin School of Medicine, NZ





Determining the function of genetic variants associated with abdominal aortic aneurysm




Moderators: Prof. Leon J.  Schurgers / Prof. Chris P. Reutelingsperger


Abdominal aortic aneurysm (AAA) affects 5-7% of the male population over the age of 65 and is a major cause of sudden death in elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is lacking. A recent meta-analysis of genome-wide association studies has identified four novel genetic variants specifically associated with AAA

1 . These variants are located in non-coding DNA, and their function is unclear. We aim to 1) determine which genes are regulated by AAA-associated genetic variants by identifying their long-distance chromatin interactions, and 2) determine how these variants alter gene expression. Using in vitro luciferase assays, we have identified variants that alter enhancer activity, indicating that they may dysregulate the expression of their target genes. Our ongoing work uses circular chromosome conformation capture to detect interactions anchored at these variants, with the aim of identifying which genes they contact. The results from this study are likely to uncover new biological mechanisms of action for AAA, which may lead to the development of AAA-specific medication.