The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study

Hdl Handle:
http://hdl.handle.net/10147/123939
Title:
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study
Authors:
Chappell, Sally L; Daly, Leslie; Lotya, Juzer; Alsaegh, Aiman; Guetta-Baranes, Tamar; Roca, Josep; Rabinovich, Roberto; Morgan, Kevin; Millar, Ann B; Donnelly, Seamus C; Keatings, Vera; MacNee, William; Stolk, Jan; Hiemstra, Pieter S; Miniati, Massimo; Monti, Simonetta; O'Connor, Clare M; Kalsheker, Noor
Citation:
BMC Medical Genetics. 2011 Feb 14;12(1):24
Issue Date:
14-Feb-2011
URI:
http://hdl.handle.net/10147/123939
Abstract:
Abstract Background Genetic factors are known to contribute to COPD susceptibility and these factors are not fully understood. Conflicting results have been reported for many genetic studies of candidate genes based on their role in the disease. Genome-wide association studies in combination with expression profiling have identified a number of new candidates including IREB2. A meta-analysis has implicated transforming growth factor beta-1 (TGFbeta1) as a contributor to disease susceptibility. Methods We have examined previously reported associations in both genes in a collection of 1017 white COPD patients and 912 non-diseased smoking controls. Genotype information was obtained for seven SNPs in the IREB2 gene, and for four SNPs in the TGFbeta1 gene. Allele and genotype frequencies were compared between COPD cases and controls, and odds ratios were calculated. The analysis was adjusted for age, sex, smoking and centre, including interactions of age, sex and smoking with centre. Results Our data replicate the association of IREB2 SNPs in association with COPD for SNP rs2568494, rs2656069 and rs12593229 with respective adjusted p-values of 0.0018, 0.0039 and 0.0053. No significant associations were identified for TGFbeta1. Conclusions These studies have therefore confirmed that the IREB2 locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.
Item Type:
Journal Article

Full metadata record

DC FieldValue Language
dc.contributor.authorChappell, Sally L-
dc.contributor.authorDaly, Leslie-
dc.contributor.authorLotya, Juzer-
dc.contributor.authorAlsaegh, Aiman-
dc.contributor.authorGuetta-Baranes, Tamar-
dc.contributor.authorRoca, Josep-
dc.contributor.authorRabinovich, Roberto-
dc.contributor.authorMorgan, Kevin-
dc.contributor.authorMillar, Ann B-
dc.contributor.authorDonnelly, Seamus C-
dc.contributor.authorKeatings, Vera-
dc.contributor.authorMacNee, William-
dc.contributor.authorStolk, Jan-
dc.contributor.authorHiemstra, Pieter S-
dc.contributor.authorMiniati, Massimo-
dc.contributor.authorMonti, Simonetta-
dc.contributor.authorO'Connor, Clare M-
dc.contributor.authorKalsheker, Noor-
dc.date.accessioned2011-03-08T12:32:37Z-
dc.date.available2011-03-08T12:32:37Z-
dc.date.issued2011-02-14-
dc.identifierhttp://dx.doi.org/10.1186/1471-2350-12-24-
dc.identifier.citationBMC Medical Genetics. 2011 Feb 14;12(1):24-
dc.identifier.urihttp://hdl.handle.net/10147/123939-
dc.description.abstractAbstract Background Genetic factors are known to contribute to COPD susceptibility and these factors are not fully understood. Conflicting results have been reported for many genetic studies of candidate genes based on their role in the disease. Genome-wide association studies in combination with expression profiling have identified a number of new candidates including IREB2. A meta-analysis has implicated transforming growth factor beta-1 (TGFbeta1) as a contributor to disease susceptibility. Methods We have examined previously reported associations in both genes in a collection of 1017 white COPD patients and 912 non-diseased smoking controls. Genotype information was obtained for seven SNPs in the IREB2 gene, and for four SNPs in the TGFbeta1 gene. Allele and genotype frequencies were compared between COPD cases and controls, and odds ratios were calculated. The analysis was adjusted for age, sex, smoking and centre, including interactions of age, sex and smoking with centre. Results Our data replicate the association of IREB2 SNPs in association with COPD for SNP rs2568494, rs2656069 and rs12593229 with respective adjusted p-values of 0.0018, 0.0039 and 0.0053. No significant associations were identified for TGFbeta1. Conclusions These studies have therefore confirmed that the IREB2 locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.-
dc.titleThe role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study-
dc.typeJournal Article-
dc.language.rfc3066en-
dc.rights.holderChappell et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2011-03-02T17:19:08Z-
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