Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Asthma-II: Pathophysiology and Classification01:26

Asthma-II: Pathophysiology and Classification

2.8K
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:
2.8K
Asthma-I: Introduction01:29

Asthma-I: Introduction

2.7K
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...
2.7K
Asthma: Pathogenesis and Management01:20

Asthma: Pathogenesis and Management

512
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.
512
Asthma-IV: Diagnostic and Management01:30

Asthma-IV: Diagnostic and Management

2.6K
The diagnosis and management of asthma are comprehensive, encompassing clinical assessments, lung function tests, and pharmacological interventions. Here's an overview:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
2.6K
Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs01:25

Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs

396
Asthma is a chronic respiratory condition for which new therapeutic avenues, including anti-inflammatory drugs like mast cell stabilizers and anti-IgE treatments, continue to be developed.
Mast cell stabilizers, such as cromolyn (also known as sodium cromoglycate) and nedocromil (Tilade), are effective drugs in asthma management. These stabilizers hinder histamine release by skillfully obstructing the activation of mast cells and other cellular entities. Notably, they navigate this task without...
396
Asthma-III: Symptoms and Complications01:24

Asthma-III: Symptoms and Complications

2.6K
Asthma, a common chronic respiratory condition, is classified considering the frequency and severity of symptoms alongside lung function impairment. Understanding this classification is essential for appropriate treatment and management. Here's a detailed look at the classification of asthma and its clinical features and complications:
Classification of Asthma
2.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Scientific Integrity Is Threatened by Image Duplications.

American journal of respiratory cell and molecular biology·2020
Same author

Allergy protection at farms-just a myth?

Immunity, inflammation and disease·2020
Same author

We are still confused but on a higher level.

Allergy·2019
Same author

Comments on Filipiak-Pittroff et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology·2018
Same author

Linking vitamin D, the microbiome and allergy.

Allergy·2016

Related Experiment Video

Updated: Aug 18, 2025

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

10.2K

Exome variants associated with asthma and allergy.

Matthias Wjst1,2

  • 1Institute of Lung Health and Immunity (LHI), Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, München, Germany. wjst@helmholtz-muenchen.de.

Scientific Reports
|December 5, 2022
PubMed
Summary

Researchers analyzed exome data from over 281,000 individuals to identify rare genetic variants associated with asthma and allergies. This study reveals new potential drug targets for allergic diseases.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K

Related Experiment Videos

Last Updated: Aug 18, 2025

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

10.2K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K

Area of Science:

  • Genetics
  • Immunology
  • Bioinformatics

Background:

  • The genetic underpinnings of asthma and allergy susceptibility, particularly concerning rare variants, remain largely uncharacterized.
  • Previous studies have primarily focused on common variants, leaving a gap in understanding the role of rare genetic variations in allergic diseases.

Purpose of the Study:

  • To identify and characterize rare genetic variants associated with asthma, allergic rhinitis, and atopic dermatitis using a large-scale exome sequencing dataset.
  • To compare newly identified variants and genes with those previously discovered through genome-wide association studies (GWAS) and other sequencing approaches.
  • To pinpoint novel pharmacological targets within identified genes for potential therapeutic interventions in allergic diseases.

Main Methods:

  • Secondary analysis of exome sequencing data from 281,104 UK Biobank participants.
  • Identification and tabulation of variants of interest (VOI) significantly associated with asthma, allergic rhinitis, and atopic dermatitis.
  • Annotation of shared genes and comparison with existing genetic association study findings.

Main Results:

  • 354 variants of interest (VOI) were significantly associated with the studied allergic conditions.
  • These VOI predominantly cluster in chromosomal regions 6 and 17, with 321 unique VOI identified in 122 unique genes after filtering.
  • A substantial proportion (85%) of previously identified genes via common GWAS SNPs were not replicated, highlighting the distinct contribution of rare variants. Key implicated pathways include interferon-gamma and IL-33 signaling.

Conclusions:

  • This study identifies numerous rare variants and genes linked to asthma and allergic diseases, many of which are novel.
  • Genes involved in interferon-gamma and IL-33 signaling pathways are crucial in allergic disease pathogenesis.
  • Identified genes, including ST2/IL1RL1, TLR1, and IL13, represent promising new targets for developing personalized pharmacotherapies for allergic conditions.