Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.

2.50
Hdl Handle:
http://hdl.handle.net/2336/47635
Title:
Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.
Authors:
Hakonarson, H; Bjornsdottir, U S; Ostermann, E; Arnason, T; Adalsteinsdottir, A E; Halapi, E; Shkolny, D; Kristjansson, K; Gudnadottir, S A; Frigge, M L; Gislason, D; Gislason, T; Kong, A; Gulcher, J; Stefansson, K
Citation:
Am. J. Respir. Crit. Care Med. 2001, 164(11):2036-44
Issue Date:
1-Dec-2001
Abstract:
Numerous asthma and atopy loci have been reported in studies demonstrating associations of the asthma-related phenotypes atopy, elevated IgE levels, and bronchial hyperresponsiveness with alleles of microsatellite markers and single-nucleotide polymorphisms (SNPs) within specific cytokine/chemokine and IgE-regulating genes. Although the studies reporting these observations are compelling, most of them lack statistical power. We assessed the nature, pattern, and frequency of SNPs in 24 candidate genes in Iceland and looked for associations with asthma and atopy. We identified 42 SNPs with an average minor allele frequency of 20.3% (asthma) and 20.7% (control). Twenty SNPs (48%) were within coding sequences and 90% of those led to a predicted change in protein sequence. No differences were detected in the allelic frequencies of SNPs in any of these candidate genes between control subjects and the patients with atopic asthma. Moreover, linkage analysis that included 269 patients with atopic asthma uncovered no evidence of linkage to markers associated with these genes. We conclude that this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://ajrccm.atsjournals.org/cgi/content/abstract/164/11/2036

Full metadata record

DC FieldValue Language
dc.contributor.authorHakonarson, H-
dc.contributor.authorBjornsdottir, U S-
dc.contributor.authorOstermann, E-
dc.contributor.authorArnason, T-
dc.contributor.authorAdalsteinsdottir, A E-
dc.contributor.authorHalapi, E-
dc.contributor.authorShkolny, D-
dc.contributor.authorKristjansson, K-
dc.contributor.authorGudnadottir, S A-
dc.contributor.authorFrigge, M L-
dc.contributor.authorGislason, D-
dc.contributor.authorGislason, T-
dc.contributor.authorKong, A-
dc.contributor.authorGulcher, J-
dc.contributor.authorStefansson, K-
dc.date.accessioned2009-01-16T15:40:48Z-
dc.date.available2009-01-16T15:40:48Z-
dc.date.issued2001-12-01-
dc.date.submitted2009-01-16-
dc.identifier.citationAm. J. Respir. Crit. Care Med. 2001, 164(11):2036-44en
dc.identifier.issn1073-449X-
dc.identifier.pmid11739132-
dc.identifier.urihttp://hdl.handle.net/2336/47635-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractNumerous asthma and atopy loci have been reported in studies demonstrating associations of the asthma-related phenotypes atopy, elevated IgE levels, and bronchial hyperresponsiveness with alleles of microsatellite markers and single-nucleotide polymorphisms (SNPs) within specific cytokine/chemokine and IgE-regulating genes. Although the studies reporting these observations are compelling, most of them lack statistical power. We assessed the nature, pattern, and frequency of SNPs in 24 candidate genes in Iceland and looked for associations with asthma and atopy. We identified 42 SNPs with an average minor allele frequency of 20.3% (asthma) and 20.7% (control). Twenty SNPs (48%) were within coding sequences and 90% of those led to a predicted change in protein sequence. No differences were detected in the allelic frequencies of SNPs in any of these candidate genes between control subjects and the patients with atopic asthma. Moreover, linkage analysis that included 269 patients with atopic asthma uncovered no evidence of linkage to markers associated with these genes. We conclude that this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.en
dc.language.isoenen
dc.publisherAmerican Thoracic Societyen
dc.relation.urlhttp://ajrccm.atsjournals.org/cgi/content/abstract/164/11/2036en
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAsthmaen
dc.subject.meshBronchial Hyperreactivityen
dc.subject.meshCase-Control Studiesen
dc.subject.meshChilden
dc.subject.meshCluster Analysisen
dc.subject.meshFemaleen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenotypeen
dc.subject.meshHumansen
dc.subject.meshHypersensitivity, Immediateen
dc.subject.meshIcelanden
dc.subject.meshImmunoglobulin Een
dc.subject.meshLinkage (Genetics)en
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshPhenotypeen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshSkin Testsen
dc.titleAllelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.en
dc.typeArticleen
dc.contributor.departmentdeCODE Genetics, Inc., Reykjavik, Iceland. hakonh@decode.isen
dc.identifier.journalAmerican journal of respiratory and critical care medicineen

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