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Related Concept Videos

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...
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Pharmacogenomics: Identification of New Drug Targets

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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DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Blood pressure measurement is a fundamental clinical procedure, providing crucial data for assessing cardiovascular health. Among the various sites for this measurement, the brachial and popliteal arteries are predominantly utilized due to their accessibility and the reliability of their readings. This lesson delves into the anatomical significance, methodology, and considerations of measuring blood pressure at these locations.
The Brachial Artery: Primary Site for Blood Pressure Measurement
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Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
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Updated: May 27, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

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Published on: January 9, 2020

Blood pressure loci identified with a gene-centric array.

Toby Johnson1, Tom R Gaunt, Stephen J Newhouse

  • 1Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK. t.johnson@qmul.ac.uk

American Journal of Human Genetics
|November 22, 2011
PubMed
Summary

Researchers identified new genetic variants linked to high blood pressure (BP) using a targeted genotyping array. This study expands understanding of BP heritability and identifies potential gene targets for future cardiovascular disease research.

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Human Physiology

Background:

  • Elevated blood pressure (BP) is a primary risk factor for cardiovascular disease.
  • Prior genetic studies identified 47 variants associated with BP, explaining minimal heritability.
  • A need exists to discover additional genetic loci influencing BP phenotypes.

Purpose of the Study:

  • To identify novel genetic variants associated with blood pressure.
  • To increase the understanding of genetic contributions to BP regulation.
  • To explore potential gene regulatory mechanisms influencing BP.

Main Methods:

  • Utilized a bespoke gene-centric array for genotyping in a discovery sample of 25,118 individuals.
  • Conducted follow-up genotyping in an additional 59,349 individuals for associated SNPs.
  • Employed a weighting scheme for meta-analysis of extreme and population samples.

Main Results:

  • Identified and replicated SNPs at LSP1/TNNT3 and MTHFR-NPPB, independent of prior findings.
  • Replicated previously reported SNPs at AGT and ATP2B1.
  • Discovered significant associations at four additional loci: NPR3, HFE, NOS3, and SOX6.

Conclusions:

  • The study successfully identified multiple novel genetic loci associated with blood pressure.
  • The findings contribute to a more comprehensive understanding of BP heritability.
  • Investigated gene regulatory mechanisms at MTHFR and NOS3, providing targets for future research.