Related Experiment Video
Updated: May 7, 2026
06:59
Quantification of Atherosclerosis in Mice
Published on: June 12, 2019
A variant in LDLR is associated with abdominal aortic aneurysm
Circulation. Cardiovascular Genetics
|September 19, 2013
Summary
Genetic analysis identified a significant association between the LDLR rs6511720 variant and abdominal aortic aneurysm (AAA). This finding may open new avenues for AAA prevention and treatment by exploring shared cardiovascular disease pathways.
Area of Science:
- Cardiovascular Genetics
- Complex Disease Genetics
Background:
- Abdominal aortic aneurysm (AAA) is a prevalent cardiovascular disease in older adults with significant heritability.
- Few genetic associations for AAA have been confirmed compared to other complex diseases.
- This study re-examines genome-wide data to identify and replicate suggestive AAA genetic associations.
Purpose of the Study:
- To reanalyze genome-wide association study data for abdominal aortic aneurysm (AAA).
- To identify and replicate genetic variants associated with AAA risk.
- To investigate the role of the Low-density lipoprotein receptor (LDLR) gene in AAA pathogenesis.
Main Methods:
- Conducted a genome-wide association study (GWAS) with 1830 AAA cases and 5435 controls.
- Performed in silico replication of eight suggestive associations in 1292 AAA cases and 30,503 controls.
- Conducted further replication of the top single-nucleotide polymorphism (SNP) in three independent cohorts totaling 2098 AAA cases and 3062 controls.
Main Results:
- Identified eight suggestive associations (P<1×10(-4)) in the initial GWAS.
- The LDLR rs6511720 A variant showed significant association after in silico replication (P<0.05).
- Replication studies confirmed LDLR rs6511720 association with AAA, reaching genome-wide significance (P=2.08×10(-10)).
Conclusions:
- The LDLR rs6511720 variant is significantly associated with abdominal aortic aneurysm (AAA).
- This genetic link is consistent with the variant's known effects on coronary artery disease.
- Shared genetic pathways between AAA and other cardiovascular diseases offer potential for new therapeutic and preventative strategies.
Related Concept Videos
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:30Atherosclerosis I: Introduction
Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
01:26Aneurysm III: Interprofessional Care
Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
01:30Peripheral Artery Disease I: Introduction
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
01:30Coronary Artery Disease I: Introduction
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...