Related Experiment Video
Updated: Jul 11, 2026

Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
Candidate gene association studies in abdominal aortic aneurysm disease: a review and meta-analysis
A R Thompson1, F Drenos, H Hafez
1Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free & University College London Medical School, 5 University Street, London WC1E 6JF, UK.
Background:
Candidate gene analysis has been frequently used in attempts to understand the pathological processes involved in many aspects of AAA disease.
Methods:
This paper sets out a systems approach to reviewing AAA candidate gene analysis studies, whilst, explaining the key principles and design limitations of this universally applied technique. In addition we have performed a meta-analysis of six gene polymorphisms (ACE I/D, MTHFR+677C>T, MMP9-1562C>T, Il-1Beta/3953C>T, eNOS 4a/4b & TIMP1/+434C>T) reported in multiple case control studies.
Results And Conclusions:
Three of these polymorphisms were associated with a significant risk of AAA, ACE RR 1.33 [95% CI 1.20-1.48], MTHFR RR 1.14 [1.08-1.21] and MMP9 RR 1.09 [1.01-1.18]. These differences have been previously reported as equivocal, within a context of contradictory studies and as such this meta-analysis provides new evidence for their involvement in AAA disease. The plausibility of these findings is discussed within the context of a systems approach to the pathology of AAA disease.
More Related Videos
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
Coronary Artery Disease I: Introduction

