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Related Concept Videos

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...
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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...
Asthma I: Introduction01:28

Asthma I: Introduction

Asthma is a chronic inflammatory disorder of the airways characterized by variable airflow obstruction and heightened bronchial responsiveness to a wide range of triggers. The underlying inflammation leads to airway swelling, mucus hypersecretion, and smooth muscle constriction, all of which narrow the airway lumen and impede airflow. Clinically, asthma presents with recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing, symptoms that typically vary in intensity and...
Asthma-II: Pathophysiology and Classification01:26

Asthma-II: Pathophysiology and Classification

Asthma is a prevalent chronic respiratory condition marked by inflammation and hyperresponsiveness of the airways. Its pathophysiology involves complex interactions among inflammatory pathways, immune responses, and neural mechanisms.
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Asthma: Pathogenesis and Management01:20

Asthma: Pathogenesis and Management

Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Asthma-I: Introduction01:29

Asthma-I: Introduction

Asthma is a chronic respiratory ailment that requires careful management due to its varying symptoms and influencing factors. It is characterized by airway inflammation, bronchial hyperresponsiveness, and reversible airflow obstruction, leading to symptoms like wheezing, shortness of breath, chest tightness, and coughing. The symptom frequency and intensity may vary considerably over time. It is also linked to immune system responses to allergens and irritants, highlighting the complex...

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Updated: May 11, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Genetic polymorphisms and associated susceptibility to asthma.

Michael E March1, Patrick Ma Sleiman, Hakon Hakonarson

  • 1Center for Applied Genomics, Abramson Research Center of the Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia.

International Journal of General Medicine
|May 3, 2013
PubMed
Summary

Genetic research on asthma and allergies has identified over 100 gene loci. Genome-wide association studies confirm some genes and find new ones, but replication issues remain for these complex diseases.

Keywords:
allergenallergyenvironmental irritantgenome-wide association studyhigh-throughput next-generation sequencing

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Area of Science:

  • Genetics
  • Immunology
  • Environmental Health

Background:

  • Asthma and allergic diseases are complex common conditions resulting from gene-environment interactions.
  • Numerous candidate-gene studies have implicated over 100 genetic loci in asthma and allergy pathogenesis.
  • Traditional linkage analyses have identified a limited number of disease-associated genes.

Purpose of the Study:

  • To review the progress and challenges in genetic research for asthma and allergic diseases.
  • To highlight the contributions of candidate-gene studies and genome-wide association studies (GWA).
  • To discuss future directions in genetic discovery for complex diseases.

Main Methods:

  • Review of candidate-gene association studies.
  • Analysis of genome-wide association (GWA) studies targeting asthma and allergy phenotypes.
  • Discussion of traditional linkage analyses and emerging next-generation sequencing approaches.

Main Results:

  • Candidate-gene studies have identified a substantial number of loci associated with asthma and allergy.
  • GWA studies have validated some candidate genes and discovered novel susceptibility loci.
  • Replication of findings remains a significant challenge, and much heritability is yet to be explained.

Conclusions:

  • Genetic research has advanced the understanding of asthma and allergy pathogenesis.
  • GWA studies have been instrumental in identifying new susceptibility genes.
  • Future research will likely leverage next-generation sequencing for comprehensive genetic analysis, necessitating advanced data handling.