2007
DOI: 10.1038/nature06014
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Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

Abstract: Asthma is caused by a combination of poorly understood genetic and environmental factors. We have systematically mapped the effects of single nucleotide polymorphisms (SNPs) on the presence of childhood onset asthma by genome-wide association. We characterized more than 317,000 SNPs in DNA from 994 patients with childhood onset asthma and 1,243 non-asthmatics, using family and case-referent panels. Here we show multiple markers on chromosome 17q21 to be strongly and reproducibly associated with childhood onset… Show more

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Cited by 1,460 publications
(1,514 citation statements)
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References 21 publications
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“…). Genetic predisposition has also linked asthma and ER stress via the ORMLD3 gene which encodes a protein that modulates function of the sarcoendoplasmic reticulum Ca 2+ ATPase pump (SERCA) that regulates ER vs cytosolic Ca 2+ concentrations, and thereby modulates protein folding and Ca 2+ ‐signalling 12, 88, 89. Studies of ER stress in the human disease are rather limited but there is evidence of ER stress in both cells sampled by bronchiolar lavage and in peripheral blood leucocytes 90.…”
Section: Oxidative and Er Stress In Chronic Inflammatory And Mucopurumentioning
confidence: 99%
“…). Genetic predisposition has also linked asthma and ER stress via the ORMLD3 gene which encodes a protein that modulates function of the sarcoendoplasmic reticulum Ca 2+ ATPase pump (SERCA) that regulates ER vs cytosolic Ca 2+ concentrations, and thereby modulates protein folding and Ca 2+ ‐signalling 12, 88, 89. Studies of ER stress in the human disease are rather limited but there is evidence of ER stress in both cells sampled by bronchiolar lavage and in peripheral blood leucocytes 90.…”
Section: Oxidative and Er Stress In Chronic Inflammatory And Mucopurumentioning
confidence: 99%
“…10 A single GWAS 171 has been performed on age-of-asthma onset in asthmatic children and led to the identification 172 of two loci, not found by the previous asthma GWASs; these loci on chromosomes 3p26 and 173 11q24 were associated with an earlier onset of childhood asthma. 11 Moreover, the effect of 174 9 17q12-q21 genetic variants, identified by the first GWAS of asthma, 12 was found to be 175 restricted to early-onset asthma. 13,14 …”
mentioning
confidence: 99%
“…The need for patient cohorts with intermediate phenotypes Organizing genomic sequencing and genome-wide activity data into coherent functional units represented by networks will help to reveal Advances in mapping DNA loci related to human diseases and genomewide profiling of mRNA transcript abundances have occurred on an unprecedented scale (11,22,(32)(33)(34). Of particular interest is the identification of RNA molecules that mediate the flow of information from DNA to disease, because RNA is transcribed directly from a DNA template and is thus the most proximal non-DNA species of all molecules in the cell.…”
Section: New Medicinementioning
confidence: 99%
“…(B) A risk triangle for any given CCD that represents inherited (that is, genetic) risk factors, from the common ones (which are context-independent) to the increasingly individual ones (which are context-dependent). The genetics of gene expression cohorts (GGE) will help us interpret data from GWAS by identifying genes whose corresponding RNA levels associate with genetic loci that also associate with disease (22,23,32,(36)(37)(38); gene expression profiles can also be used to infer causal relationships between molecular traits (up to networks) and disease states (30,(39)(40)(41). The triangle represents the inherited risk for a given CCD in a given individual.…”
Section: New Medicinementioning
confidence: 99%