Markers of aneurysm formation and progression
Research type
Research Study
Full title
Markers of the susceptibility to aneurysm formation and progression
IRAS ID
163467
Contact name
Alberto Smith
Contact email
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
An arterial aneurysm (AA) is a ballooning of a blood vessel that carries blood from the heart to the tissues around the body. This is a common condition, with rupture of AA, accounting for 1-2% of all deaths in the UK each year.
Familial predisposition is a strong risk factor in the development of aneurysms. Between 15-20% of patients with abdominal aortic aneurysms (AAA) and over 20% with thoracic aneurysms (TAA) inherit this condition, with approximately 7-fold increase in the prevalence of (AAA) in the brothers of affected individuals and an 18-fold increase in brothers aged over 60 years. Patients with a family history tend to present younger and have a greater rate of rupture.
Genetic studies of aneurysmal disease have focused primarily on common genetic risk factors in the population through the application of genome-wide association studies (GWAS) that compare the profiles of known sequences in the molecules that make up the DNA of affected individuals with that of the normal population. Although GWAS data reveals interesting biological information, the size of the effect of identified common variants are modest and have very little predictive value. It is clear from our population studies that there must be rare variants, which produce stronger effects that explain the heritability of aneurysms.
The aim of this study is to use innovative gene sequencing technologies to identify novel gene variants that predispose to aneurysmal disease. Finding such variants in subjects with aneurysmal disease, in conjunction with identification of circulating biomarkers of disease, would provide useful prognostic information in first-degree relatives before an aneurysm develops and might highlight putative targets for medical therapy.REC name
London - Westminster Research Ethics Committee
REC reference
15/LO/0625
Date of REC Opinion
15 Jun 2015
REC opinion
Further Information Favourable Opinion