Genotyping of the Abdominal Aortic Aneurysm–Express Biobank Study

We are happy to announce that we received a BBMRI-NL complementation grant of €50,000 for our proposal entitled Genotyping of the Abdominal Aortic Aneurysm–Express Biobank Study in collaboration with Gerard Pasterkamp.

Executive summary

Currently we have 325 patients included in the Abdominal Aortic Aneurysm (AAA) Express Biobank Study(1). Of these patients we have obtained vascular tissue during open AAA surgery. In addition we performed immunohistological analyses, stored blood and tissue material, recorded baseline clinical data, and followed the patients for 3 years. All patients gave written informed consent. Our goal for the AAA Biobank Study is to couple genomic variation to vascular aneurysm gene and protein expression, and histological and clinical data. The purpose of this complementation project is to collect genotypes of the AAA Biobank Study. We have ongoing collaboration with academia (e.g. Karolinska Institute, UMC Utrecht, Bristol University, Cambridge, UMC Groningen, AMC) and pharmaceutical partners. By collecting genotype data we are adding value to a rich resource for the biomedical research community.

Genome-wide association studies (GWAS) have pointed to common variants associated with AAA(2), but less common functional variation in coding regions of the genome is also important. Therefore we aim to genotype our cohort with the Illumina HumanCoreExome which provides genome-wide coverage for common variation and interrogates rare funcational coding variation.

The AAA Biobank Study is a unique cohort of cardiovascular patients undergoing open AAA surgery with extensive clinical, biochemical, biomolecular, histological and clinical follow–up data (3 years). There is a good track record in the field of aneurysm research, evident from the ongoing collaborations with academia and pharmaceutical partners. This complementation effort would add value to an already rich biobank resource, providing the BBMRI-stakeholders with a unique strategic edge.

1) Hurks R., et al. Aneurysm-express: human abdominal aortic aneurysm wall expression in relation to heterogeneity and vascular events - rationale and design. Eur Surg Res. 2010;45(1):34-40. doi: 10.1159/000318160. PMID: 20720431.

2) Singh T.P., et al. Systematic review of genome-wide association studies of abdominal aortic aneurysm. Atherosclerosis. 2021 Jun;327:39-48. doi: 10.1016/j.atherosclerosis.2021.05.001. PMID: 34038762.