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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
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Aneurysm I: Introduction01:30

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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...
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Thoracic Aorta01:15

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The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
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Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

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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...
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Human Genetics01:28

Human Genetics

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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.
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Related Experiment Video

Updated: Sep 19, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.

John DePaolo1, Diane T Smelser2, Dongchuan Guo3

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Summary
This summary is machine-generated.

Rare pathogenic variants in heritable thoracic aortic aneurysm and dissection (HTAAD) genes significantly increase TAAD risk in the general population. Polygenic risk scores may modify this risk, indicating complex genetic contributions to TAAD.

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Area of Science:

  • Genetics
  • Cardiovascular Diseases
  • Genomics

Background:

  • Thoracic aortic aneurysm and dissection (TAAD) poses severe health risks.
  • Eleven genes are known to cause heritable TAAD (HTAAD), but testing is limited without strong family history.
  • The prevalence and risk associated with rare variants in HTAAD genes, and the impact of common genetic variation, remain largely unknown.

Purpose of the Study:

  • To determine the prevalence of pathogenic or likely pathogenic (P/LP) variants in HTAAD genes within the general population.
  • To assess the association between P/LP HTAAD variants and TAAD risk.
  • To investigate whether polygenic risk scores for aortic diameter modify the risk conferred by rare HTAAD variants.

Main Methods:

  • Utilized data from the Penn Medicine Biobank (PMBB) and MyCode participants, linking electronic health records with biospecimen data.
  • Adjudicated P/LP HTAAD gene variants according to ACMG standards.
  • Employed logistic regression to determine TAAD risk associated with P/LP variants and analyzed the modifying effect of an ascending aortic diameter polygenic risk score (AscAoD PRS) on rare variant penetrance.

Main Results:

  • 0.2-0.3% of participants carried a P/LP HTAAD gene variant.
  • Carrying a P/LP HTAAD variant was associated with a 13.5-fold increased risk of TAAD diagnosis.
  • Increased AscAoD PRS was linked to higher TAAD risk, and this polygenic risk appeared to modify the penetrance of rare HTAAD variants.

Conclusions:

  • P/LP HTAAD gene variants significantly increase TAAD risk in the general population.
  • Polygenic risk, assessed via AscAoD PRS, may be a crucial modifier of rare variant risk for TAAD.
  • These findings highlight the importance of considering both rare and common genetic variations in TAAD risk assessment.