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Related Concept Videos

Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

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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...
55
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

34
Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
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Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

77
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...
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Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

32
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...
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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

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Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
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Related Experiment Video

Updated: Sep 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.

Fang Li1, Elise Flynn2,3, Philip Ha1

  • 1Cardiometabolic Genomics Program, Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center, 630 West 168th St, P&S 10-401, New York, NY 10032, USA.

European Heart Journal
|August 19, 2025
PubMed
Summary

Coronary artery disease risk alleles increase lipase A (LIPA) expression in macrophages, worsening atherosclerosis. This study links LIPA variants to monocyte/macrophage function and disease progression, providing mechanistic insights.

Keywords:
AtherosclerosisFunctional genomicsGWASLysosomal acid lipaseMacrophage

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Area of Science:

  • Genomics
  • Molecular Biology
  • Cardiovascular Disease Research

Background:

  • Genome-wide association studies identify LIPA as a coronary artery disease (CAD) risk locus.
  • Previous research prioritized LIPA as a likely causal gene, but functional evidence was lacking.
  • Understanding the variant-to-function relationship at the LIPA locus is crucial for mechanistic insights into CAD.

Purpose of the Study:

  • To establish the variant-to-function relationship at the LIPA locus.
  • To elucidate the causal variants, regulatory mechanisms, and target cell types involved.
  • To determine the causal impact of LIPA on atherosclerosis.

Main Methods:

  • Utilized post-genome-wide association study pipelines and molecular biology techniques (e.g., eQTL, Tri-HiC, CRISPRi).
  • Investigated enhancer-promoter interactions and transcription factor binding (PU.1).
  • Generated myeloid-specific Lipa overexpression mice (Ldlr-/-) to model atherosclerosis.

Main Results:

  • Coronary artery disease risk alleles increase LIPA expression and enzyme activity in monocytes/macrophages via enhanced PU.1 binding to an intronic enhancer.
  • Myeloid-specific Lipa overexpression in mice led to larger atherosclerotic lesions.
  • Observed altered macrophage function, increased lesional macrophage accumulation, and changes in specific gene pathways.

Conclusions:

  • Established a direct causal link between LIPA risk alleles and increased monocyte/macrophage LIPA.
  • Demonstrated that increased LIPA exacerbates atherosclerosis.
  • Bridged human functional genomic evidence with mechanistic understanding of CAD.