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Related Concept Videos

Aneurysm I: Introduction01:30

Aneurysm 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...
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm 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...
Abdominal Aorta01:25

Abdominal Aorta

Once the aorta traverses the diaphragmatic plane at the aortic hiatus, it is known as the abdominal aorta. This anatomical structure is positioned leftward of the spinal column, encased within a cocoon of adipose tissue behind the peritoneal cavity. It terminates at the L4 vertebra, where it splits into the common iliac arteries. Prior to this bifurcation, the abdominal aorta gives rise to several vital branches.
The celiac trunk, a singular artery, divides into the left gastric artery, which...
Aneurysm III: Interprofessional Care01:26

Aneurysm 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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
06:08

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Published on: March 8, 2019

Genes and abdominal aortic aneurysm.

Irene Hinterseher1, Gerard Tromp, Helena Kuivaniemi

  • 1Geisinger Health System, The Sigfried and Janet Weis Center for Research, 100 North Academy Avenue, Danville, PA 17822-2610, USA.

Annals of Vascular Surgery
|December 15, 2010
PubMed
Summary
This summary is machine-generated.

Genetic studies reveal single nucleotide polymorphisms (SNPs) linked to abdominal aortic aneurysm (AAA). While some associations require replication, ANRIL and DAB2IP show strong evidence for AAA genetic risk.

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Molecular Biology

Background:

  • Abdominal aortic aneurysm (AAA) is a complex disease with significant genetic influences.
  • Numerous genetic association studies using single nucleotide polymorphisms (SNPs) have investigated AAA risk factors over the past two decades.
  • Many previous studies lacked the statistical power and reproducibility needed for definitive conclusions.

Purpose of the Study:

  • To review genetic association studies on abdominal aortic aneurysm (AAA).
  • To identify genetic variants and genes robustly associated with AAA risk.
  • To highlight the need for functional studies to elucidate AAA pathogenesis.

Main Methods:

  • Review of candidate gene studies and single nucleotide polymorphism (SNP) investigations.
  • Analysis of unbiased approaches including family-based DNA linkage and genome-wide association studies (GWAS).
  • Assessment of replication and statistical power in reported genetic association studies.

Main Results:

  • Previous SNP studies in AAA reported associations in extracellular matrix, cardiovascular, immune, and signaling pathway genes, with limited replication.
  • Genome-wide association studies (GWAS) identified potential AAA-associated SNPs, including a variant in contactin-3, though replication failed.
  • SNPs in the CDKN2BAS (ANRIL) and DAB2IP genes demonstrated the strongest replicated evidence for contributing to AAA genetic risk.

Conclusions:

  • Genetic factors play a crucial role in abdominal aortic aneurysm (AAA) development.
  • Replication and large, well-characterized cohorts are essential for validating genetic associations in AAA.
  • Further functional studies are necessary to understand the mechanistic role of ANRIL and DAB2IP in AAA pathogenesis.