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Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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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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Related Experiment Video

Updated: May 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

EPAS1 and VEGFA Polymorphisms Modulate COPD Susceptibility in a High-Altitude Population: A Case-Control Study.

Lin Lin1, Yi Zhang1, Xiang Fu1

  • 1Institute of Public Health, Gansu University of Chinese Medicine, Lanzhou, Gansu, People's Republic of China.

International Journal of Chronic Obstructive Pulmonary Disease
|May 28, 2026
PubMed
Summary

Genetic variations in EPAS1 and VEGFA influence Chronic Obstructive Pulmonary Disease (COPD) risk in high-altitude populations. Specific EPAS1 and VEGFA polymorphisms are linked to COPD susceptibility in these unique environmental conditions.

Keywords:
EPAS1VEGFAchronic obstructive pulmonary diseasegene polymorphismhigh altitude

Related Experiment Videos

Last Updated: May 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Environmental Health
  • Pulmonology

Background:

  • Chronic Obstructive Pulmonary Disease (COPD) development is influenced by genetic and environmental factors.
  • High-altitude persistent hypoxia is a significant environmental stressor impacting COPD.
  • EPAS1 gene expression and its target VEGFA under hypoxia are key but not fully understood.

Purpose of the Study:

  • To investigate the association between EPAS1 and VEGFA gene polymorphisms and COPD susceptibility in high-altitude populations.
  • To evaluate specific SNP associations in Tibetan and Han Chinese populations.

Main Methods:

  • A case-control study was conducted in Gansu Province.
  • EPAS1 gene polymorphisms (rs4953354, rs6743991, rs7589861, rs13419896) were analyzed in 517 COPD patients and 580 controls.
  • VEGFA gene polymorphisms (rs10434, rs2010963, rs3025020, rs833070) were analyzed in 397 patients and 807 controls from Tibetan and Han populations.

Main Results:

  • EPAS1 rs4953354 A>G polymorphism was associated with decreased COPD risk (OR=0.680 for AG vs AA).
  • In Han Chinese, VEGFA rs2010963 C>G and rs3025020 C>T increased COPD risk (e.g., OR=1.670 for rs2010963 CG+GG vs CC).
  • In Tibetans, VEGFA rs3025020 C>T was associated with decreased COPD risk (OR=0.571 for CT+TT vs CC).

Conclusions:

  • EPAS1 and VEGFA gene polymorphisms are significantly associated with COPD susceptibility in high-altitude dwellers.
  • These findings highlight the role of specific genetic variations in COPD pathogenesis under hypoxic conditions.
  • Population-specific effects of VEGFA polymorphisms were observed in Han and Tibetan groups.