Related Experiment Video
Updated: Feb 23, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.8K
Genetic analysis of asthma exacerbations
Wayne H Anderson1, Beena T Koshy, Lingkang Huang
1GlaxoSmithKline, Research Triangle Park, NC 27709, USA
Summary
This study investigated genetic markers for asthma exacerbations but could not confirm previous findings in less severe cases. Further research may reveal similar genetic pathways involved in asthma. Keywords: asthma exacerbations, genetic markers, asthma research.
Area of Science:
- Genetics
- Pulmonology
- Pharmacogenomics
Background:
- Identifying genetic susceptibility markers for asthma exacerbations is crucial for improving patient management and guiding drug development.
- Previous studies have linked specific genetic markers to severe asthma exacerbations.
Purpose of the Study:
- To determine if genetic markers associated with severe asthma exacerbations are also linked to less severe events.
- To identify novel genetic markers for asthma exacerbations using candidate genes and whole-genome scanning.
Main Methods:
- A meta-analysis was performed on data from 199 patients and 502 controls across four clinical trials.
- Genotyping of 51 markers in 17 genes and a whole-genome scan were conducted.
- Admixture analysis was used to characterize ancestral groups.
Main Results:
- Several variants in the IL4R gene showed a genetic effect, including rs1805011 (P < .0006).
- Three markers in the IFNB1 gene were associated with exacerbations in African Americans (P < .002).
- Whole-genome scan identified genes related to mast cell mediator release; however, previously reported associations were not confirmed due to not meeting significance thresholds.
Conclusions:
- Previously reported associations between genetic markers and asthma exacerbations could not be confirmed in this cohort with less severe asthma.
- Despite the lack of confirmation, the findings suggest the involvement of similar genetic pathways in asthma exacerbations.
Related Concept Videos
01:20Asthma: Pathogenesis and Management
1.5K
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 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
01:26Asthma-II: Pathophysiology and Classification
4.6K
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:
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:
4.6K
01:29Asthma-I: Introduction
3.6K
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
01:30Asthma-IV: Diagnostic and Management
3.2K
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:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
3.2K
02:32Exon Recombination
4.2K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
4.2K
01:24Asthma-III: Symptoms and Complications
3.4K
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
Classification of Asthma
3.4K