Related Experiment Video

Updated: May 4, 2026

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels
05:31

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels

Published on: August 7, 2017

9.6K

Identification of ATPAF1 as a novel candidate gene for asthma in children

Eric M Schauberger1, Susan L Ewart, Syed H Arshad

  • 1Michigan State University, East Lansing, MI, USA.

The Journal of Allergy and Clinical Immunology
|June 24, 2011
PubMed

Insights

Genetic variations in the ATPAF1 gene are linked to childhood asthma susceptibility across diverse ancestries. This finding aids in predicting and stratifying asthma risk in children.

Area of Science:

  • Genetics
  • Pediatrics
  • Respiratory Medicine

Background:

  • Childhood asthma is a prevalent condition with a complex genetic basis.
  • Identifying genetic factors is crucial for predicting asthma risk and stratifying patients.

Purpose of the Study:

  • To identify specific genes associated with asthma susceptibility in children.
  • To investigate the role of genetic variations in childhood asthma.

Main Methods:

  • A nested case-control genetic association study was performed on a birth cohort of European ancestry children.
  • Genome-wide genotyping of single nucleotide polymorphisms (SNPs) was conducted, followed by replication in diverse populations.
  • ATPAF1 gene expression was analyzed in bronchial biopsies.

Main Results:

  • A significant association was found between asthma and a cluster of SNPs and haplotypes within the ATPAF1 gene region, with genome-wide significance.
  • Associations were confirmed across multiple ancestries, including Caucasian, African American, and Hispanic populations.
  • Increased ATPAF1 gene expression was observed in asthmatic children's bronchial biopsies compared to controls.

Conclusions:

  • Genetic variations in the ATPAF1 gene contribute to asthma predisposition in children of various ancestries.
  • The ATPAF1 gene is a potential target for understanding and managing childhood asthma.
Abstract

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

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

Published on: June 21, 2018

9.2K
Acupuncture in a Rat Model of Asthma07:14

Acupuncture in a Rat Model of Asthma

Published on: August 25, 2020

5.8K

Related Concept Videos

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.
1.5K
Antiasthma Drugs: Leukotriene Modifiers01:19

Antiasthma Drugs: Leukotriene Modifiers

Leukotriene modifiers, or cysteinyl leukotriene receptor antagonists, are medications used to manage chronic asthma. These agents target specific inflammatory mediators produced during arachidonic acid metabolism, an essential process in generating inflammation in the body.
Leukotriene modifiers work through two distinct mechanisms:
2.2K
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...
3.6K
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:
4.7K
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...
112
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,...
49