Related Experiment Video
Updated: May 7, 2025
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
19.5K
Copy Number Variation in Asthma: An Integrative Review
Fernanda Mariano Garcia1, Valdemir Pereira de Sousa2, Priscila Pinto E Silva-Dos-Santos3,4,5
1Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil. f.marianogarcia@gmail.com.
Clinical Reviews in Allergy & Immunology
|January 4, 2025
Summary
Copy number variations (CNVs) are important genetic factors in asthma. This review highlights CNVs on chromosomes 6p and 17q, identifying potential biomarkers for asthma risk and treatment.
Area of Science:
- Genetics
- Pulmonology
- Bioinformatics
Background:
- Asthma is a complex respiratory disease influenced by genetic and environmental factors.
- Chronic airway inflammation and hyperresponsiveness are key features, but asthma's etiology is diverse, leading to varied phenotypes and endotypes.
- While single nucleotide polymorphisms (SNPs) have been extensively studied, the role of structural variations like copy number variations (CNVs) in asthma genetics remains underexplored.
Purpose of the Study:
- To conduct an integrative review of existing literature on copy number variations (CNVs) in asthma.
- To identify genes, pathways, and chromosomal locations associated with CNVs in asthma.
- To evaluate the contribution of CNVs to asthma risk, severity, control, and treatment response.
Main Methods:
- An integrative review of 16 observational studies (case-control, cohort, genotyped-proband/trio designs).
- Analysis of studies conducted across diverse global populations, ethnicities, and age groups.
- Focus on identifying CNV characteristics (location, size, class) and their genetic associations.
Main Results:
- Chromosomes 12 and 17 were most frequently studied.
- CNVs on 12 chromosomes were associated with asthma, predominantly deletions on chromosome 6p and 17q.
- These CNVs encompassed 30 coding genes and one pseudogene region; six genes were significant expression quantitative loci (eQTLs) in lung and blood tissues.
Conclusions:
- Copy number variations (CNVs) play a significant role in the genetic architecture of asthma.
- Specific CNVs, particularly on chromosomes 6p and 17q, are linked to asthma.
- Investigating CNVs could lead to novel biomarkers for asthma risk stratification and personalized treatment strategies.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
16.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
16.7K
01:26Asthma-II: Pathophysiology and Classification
2.6K
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:
2.6K
01:29Asthma-I: Introduction
2.6K
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...
2.6K
01:20Asthma: Pathogenesis and Management
224
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.
224
01:24Asthma-III: Symptoms and Complications
2.4K
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
2.4K
01:30Asthma-IV: Diagnostic and Management
2.4K
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:
2.4K