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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...
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 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 III: Clinical Manifestations01:13

Asthma III: Clinical Manifestations

Asthma presents with a characteristic pattern of episodic respiratory symptoms that reflect underlying airway inflammation, bronchoconstriction, and mucus hypersecretion. Although severity varies among individuals, certain clinical manifestations are considered hallmarks of the disorder and often guide diagnosis and assessment.Respiratory SymptomsA persistent cough is one of the most common early features of asthma. It is frequently dry and tends to worsen at night or in the early morning,...
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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Related Experiment Video

Updated: May 8, 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

Genome-wide expression quantitative trait loci analysis in asthma.

Yohan Bossé1

  • 1Centre de recherche de l'Institut universitaire de cardiologie et de pneumologie de Québec, Laval University, Québec, Canada. yohan.bosse@crhl.ulaval.ca

Current Opinion in Allergy and Clinical Immunology
|August 16, 2013
PubMed
Summary

Expression quantitative trait loci (eQTL) mapping studies are crucial for identifying disease susceptibility genes. These studies refine genome-wide association study (GWAS) findings, particularly for asthma, by analyzing gene expression patterns.

Related Experiment Videos

Last Updated: May 8, 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:

  • Genomics and Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Genome-wide association studies (GWAS) identify genetic loci associated with diseases.
  • Expression quantitative trait loci (eQTL) mapping is a key next step to understand gene function and disease mechanisms.
  • eQTL studies link genetic variants to gene expression levels.

Purpose of the Study:

  • To review emerging concepts in the genetics of gene expression.
  • To evaluate the empirical value of eQTL mapping in refining asthma susceptibility loci identified by GWAS.
  • To highlight the role of eQTLs in understanding disease-associated genetic variants.

Main Methods:

  • Review of existing literature on eQTL mapping studies.
  • Analysis of eQTL data in disease-relevant tissues and cell types.
  • Integration of eQTL findings with GWAS data for asthma.

Main Results:

  • eQTL mapping reveals cis and trans control of gene expression.
  • eQTLs demonstrate cell type and tissue specificity, as well as pleiotropy.
  • Recent eQTL studies in asthma-relevant tissues help interpret GWAS loci, including the 17q21 locus.

Conclusions:

  • The full potential of eQTL mapping is beginning to be realized.
  • Advances in sequencing and bioinformatics will accelerate progress in integrative genomics.
  • Developing robust eQTL datasets for asthma-relevant tissues is an immediate challenge.