Related Experiment Video
Updated: Sep 20, 2026

Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
Genetic linkage of candidate genes in families with abdominal aortic aneurysms?
C J van Vlijmen-van Keulen1, A C Vahl, R C M Hennekam
1Institute for Cardiovascular Research, Department of Vascular Surgery, VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands.
Objectives:
to examine possible involvement of several candidate genes in the aetiology of familial abdominal aortic aneurysm (AAA).
Design:
after reviewing the literature on the genetics of familial AAA, betaine homocysteine methyltransferase (BHMT), collagen type Ialpha2 (COL1A2) and cathepsin H (CTSH), were selected as potential candidate genes, which influence structure, strength, elasticity and mechanical resistance of the aortic wall.
Materials:
forty-eight families with 110 family members and AAA were included in the affected sib-pair analysis. One large family of three generations was analysed separately because in this family also other clinical symptoms were involved.
Methods:
genetic linkage analysis was performed with DNA markers in the region of BHMT, COL1A2 and CTSH.
Results:
In the overall sib-pair analysis, the LOD scores for BHMT, COL1A2 and CTSH were 0.7, 0.2 and -0.7, whereas in the large family these numbers were -0.6, -2.2 and -2.7, respectively.
Conclusions:
none of the candidate genes selected showed a suggestive linkage with AAA. Exclusion of the COL1A2 and CTSH genes was possible in the large family that was analysed separately.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Aneurysm I: Introduction
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Aneurysm III: Interprofessional Care
Pharmacogenomics: Identification of New Drug Targets
Pedigree Analysis
