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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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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
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Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Angina manifests as chest pain, tightness, or squeezing discomfort typically located behind the breastbone. It can radiate to the neck, jaw, shoulders, and inner aspects of the upper arms, most commonly the left arm. Patients may experience shortness of breath, fatigue, profuse sweating, dizziness, indigestion, heartburn, palpitations, anxiety, and vomiting as accompanying symptoms. This pain often lasts a few minutes and is triggered by physical exertion, emotional stress, heavy meals, or cold...
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Gene scanning and heart attack risk.

Andreas S Barth1, Gordon F Tomaselli1

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PubMed
Summary

Coronary artery disease (CAD) genetic risk is linked to genes affecting cholesterol metabolism and pathways involved in atherosclerosis. Systems genetics approaches may clarify the interplay between genetic predisposition and environmental factors in CAD.

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Coronary artery diseaseFunctional genomicsGeneGenome-wide association studies

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Area of Science:

  • Genomics
  • Cardiovascular Research
  • Systems Genetics

Background:

  • Coronary heart disease is a leading cause of mortality globally.
  • Genome-wide association studies (GWAS) have identified numerous genetic loci associated with coronary artery disease (CAD) and acute myocardial infarction (AMI).
  • The precise mechanisms by which most single nucleotide polymorphisms (SNPs) confer risk remain largely unknown.

Purpose of the Study:

  • To perform functional analysis of candidate genes associated with CAD/AMI-SNPs.
  • To explore the pathways enriched in genes linked to CAD and AMI.
  • To highlight the potential of systems genetics in understanding CAD etiology.

Main Methods:

  • Functional analysis using Gene Ontology and KEGG pathways.
  • Analysis of candidate genes identified through GWAS for CAD/AMI-SNPs.
  • Integration of genetic risk with gene expression, metabolomic, and proteomic data for network studies.

Main Results:

  • Genes regulating cholesterol metabolism showed the strongest enrichment.
  • Significant enrichment was observed in pathways crucial for AMI, including focal adhesion, extracellular matrix interaction, TGF-β signaling, apoptosis, vascular smooth muscle contraction, angiogenesis, calcium ion binding, and transcription factors.
  • Candidate genes associated with CAD/AMI-SNPs highlight key biological processes.

Conclusions:

  • Functional analysis reveals that cholesterol metabolism is a primary pathway implicated in CAD genetic risk.
  • Multiple pathways critical to atherosclerotic plaque development and AMI pathogenesis are genetically influenced.
  • A systems genetics approach integrating diverse data types is promising for elucidating complex CAD etiology.