ArticleClinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology2013
Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility.
Article in Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America.Scientific reports · 2018Trial
- Copy Number Variation in Asthma: An Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- Asthma-Genomic Advances Toward Risk Prediction.Clinics in chest medicine · 2024Review
- IL-9 aggravates SARS-CoV-2 infection and exacerbates associated airway inflammation.Nature communications · 2023Article
- Mouse Strain-Dependent Difference Toward theFrontiers in immunology · 2020Article
- Differential bronchial epithelial response regulated by ΔNp63: a functional understanding of the epithelial shedding found in asthma.Laboratory investigation; a journal of technical methods and pathology · 2019Article
- Genomic Predictors of Asthma Phenotypes and Treatment Response.Frontiers in pediatrics · 2019Review
- Pediatric asthma and autism-genomic perspectives.Clinical and translational medicine · 2015Article
- Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.Allergy, asthma & immunology research · 2015Article
- Copy number variation in the horse genome.PLoS genetics · 2014Article
- Copy number variation in CCND1 gene is implicated in the pathogenesis of sporadic parathyroid carcinoma.World journal of surgery · 2014Article
- Alpha-tryptase gene variation is associated with levels of circulating IgE and lung function in asthma.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2014Article
- Pulmonary sequestration in children: a clinical analysis of 48 cases.International journal of clinical and experimental medicine · 2014Article
- Intermediary quantitative traits--an alternative in the identification of disease genes in asthma?Genes and immunity · 2014Article
- Copy number variation genotyping using family information.BMC bioinformatics · 2013Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundGenetic studies have identified numerous genes reproducibly associated with asthma, yet these studies have focussed almost entirely on single nucleotide polymorphisms (SNPs), and virtually ignored another highly prevalent form of genetic variation: Copy Number Variants (CNVs).
objectiveTo survey the prevalence of CNVs in genes previously associated with asthma, and to assess whether CNVs represent the functional asthma-susceptibility variants at these loci.
methodsWe genotyped 383 asthmatic trios participating in the Childhood Asthma Management Program (CAMP) using a competitive genomic hybridization (CGH) array designed to interrogate 20 092 CNVs. To ensure comprehensive assessment of all potential asthma candidate genes, we purposely used liberal asthma gene inclusion criteria, resulting in consideration of 270 candidate genes previously implicated in asthma. We performed statistical testing using FBAT-CNV.
resultsCopy number variation in asthma candidate genes was prevalent, with 21% of tested genes residing near or within one of 69 CNVs. In six instances, the complete candidate gene sequence resides within the CNV boundaries. On average, asthmatic probands carried six asthma-candidate CNVs (range 1-29). However, the vast majority of identified CNVs were of rare frequency (< 5%) and were not statistically associated with asthma. Modest evidence for association with asthma was observed for 2 CNVs near NOS1 and SERPINA3. Linkage disequilibrium analysis suggests that CNV effects are unlikely to explain previously detected SNP associations with asthma. CONCLUSIONS AND CLINICAL RELEVANCE: Although a substantial proportion of asthma-susceptibility genes harbour polymorphic CNVs, the majority of these variants do not confer increased asthma risk. The lack of linkage disequilibrium (LD) between CNVs and asthma-associated SNPs suggests that these CNVs are unlikely to represent the functional variant responsible for most known asthma associations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.