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ACE DD genotype: a predisposing factor for abdominal aortic aneurysm.

C Fatini¹, G Pratesi, F Sofi

¹Department of Clinical and Surgical Critical Care, Thrombosis Centre, Degenerative and Neoplastic Diseases to Develop Novel Therapies, Azienda Ospedaliero-Universitaria Careggi, University of Florence, Florence, Italy.

European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery

|February 8, 2005

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The angiotensin converting enzyme (ACE) DD genotype is linked to abdominal aortic aneurysm (AAA) development. This genetic factor increases susceptibility to AAA, highlighting its role in vascular disease.

Area of Science:

Cardiovascular Genetics
Vascular Biology
Molecular Epidemiology

Background:

Abdominal aortic aneurysm (AAA) is a life-threatening condition with complex genetic and environmental factors.
Polymorphisms in the renin-angiotensin system genes are implicated in cardiovascular diseases.

Purpose of the Study:

To investigate the association between angiotensin converting enzyme (ACE) I/D and angiotensin II receptor (AT1R) A1166C gene polymorphisms and the risk of developing abdominal aortic aneurysm (AAA).

Main Methods:

A case-control study was conducted with 250 patients undergoing AAA repair and 250 age- and sex-matched healthy controls.
ACE and AT1R polymorphisms were analyzed using PCR-RFLP.
Genotype distributions were assessed for Hardy-Weinberg equilibrium.

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Main Results:

The ACE I/D polymorphism showed a significant difference in genotype distribution and allele frequency between AAA patients and controls.
The ACE DD genotype was significantly associated with an increased predisposition to AAA (OR=1.9, p<0.0001).
Multivariate analysis confirmed the ACE DD genotype as an independent risk factor for AAA (OR=2.4, p=0.003).

Conclusions:

The ACE DD genotype is a significant susceptibility factor for abdominal aortic aneurysm.
These findings contribute to understanding the genetic underpinnings of AAA.
Targeting the renin-angiotensin system may offer therapeutic avenues for AAA prevention or treatment.