The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study
<p>Abstract</p> <p>Background</p> <p>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-...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2011-02-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/12/24 |
| _version_ | 1818866044851191808 |
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| author | Stolk Jan MacNee William Keatings Vera Donnelly Seamas C Millar Ann B Morgan Kevin Rabinovich Roberto Roca Josep Guetta-Baranes Tamar Alsaegh Aiman Lotya Juzer Daly Leslie Chappell Sally L Hiemstra Pieter S Miniati Massimo Monti Simonetta O'Connor Clare M Kalsheker Noor |
| author_facet | Stolk Jan MacNee William Keatings Vera Donnelly Seamas C Millar Ann B Morgan Kevin Rabinovich Roberto Roca Josep Guetta-Baranes Tamar Alsaegh Aiman Lotya Juzer Daly Leslie Chappell Sally L Hiemstra Pieter S Miniati Massimo Monti Simonetta O'Connor Clare M Kalsheker Noor |
| author_sort | Stolk Jan |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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 <it>IREB2</it>. A meta-analysis has implicated transforming growth factor beta-1 (<it>TGFbeta1</it>) as a contributor to disease susceptibility.</p> <p>Methods</p> <p>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 <it>IREB2 </it>gene, and for four SNPs in the <it>TGFbeta1 </it>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.</p> <p>Results</p> <p>Our data replicate the association of <it>IREB2 </it>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 <it>TGFbeta1</it>.</p> <p>Conclusions</p> <p>These studies have therefore confirmed that the <it>IREB2 </it>locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.</p> |
| first_indexed | 2024-12-19T10:57:11Z |
| format | Article |
| id | doaj.art-a08c334c903840eb8ee4a27d1a78f1aa |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T10:57:11Z |
| publishDate | 2011-02-01 |
| publisher | BMC |
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| series | BMC Medical Genetics |
| spelling | doaj.art-a08c334c903840eb8ee4a27d1a78f1aa2022-12-21T20:24:45ZengBMCBMC Medical Genetics1471-23502011-02-011212410.1186/1471-2350-12-24The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control studyStolk JanMacNee WilliamKeatings VeraDonnelly Seamas CMillar Ann BMorgan KevinRabinovich RobertoRoca JosepGuetta-Baranes TamarAlsaegh AimanLotya JuzerDaly LeslieChappell Sally LHiemstra Pieter SMiniati MassimoMonti SimonettaO'Connor Clare MKalsheker Noor<p>Abstract</p> <p>Background</p> <p>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 <it>IREB2</it>. A meta-analysis has implicated transforming growth factor beta-1 (<it>TGFbeta1</it>) as a contributor to disease susceptibility.</p> <p>Methods</p> <p>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 <it>IREB2 </it>gene, and for four SNPs in the <it>TGFbeta1 </it>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.</p> <p>Results</p> <p>Our data replicate the association of <it>IREB2 </it>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 <it>TGFbeta1</it>.</p> <p>Conclusions</p> <p>These studies have therefore confirmed that the <it>IREB2 </it>locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.</p>http://www.biomedcentral.com/1471-2350/12/24 |
| spellingShingle | Stolk Jan MacNee William Keatings Vera Donnelly Seamas C Millar Ann B Morgan Kevin Rabinovich Roberto Roca Josep Guetta-Baranes Tamar Alsaegh Aiman Lotya Juzer Daly Leslie Chappell Sally L Hiemstra Pieter S Miniati Massimo Monti Simonetta O'Connor Clare M Kalsheker Noor The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study BMC Medical Genetics |
| title | The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study |
| title_full | The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study |
| title_fullStr | The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study |
| title_full_unstemmed | The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study |
| title_short | The role of <it>IREB2 </it>and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study |
| title_sort | role of it ireb2 it and transforming growth factor beta 1 genetic variants in copd a replication case control study |
| url | http://www.biomedcentral.com/1471-2350/12/24 |
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