From expression pattern to genetic association in asthma and asthma-related phenotypes

<p>Abstract</p> <p>Background</p> <p>Asthma is a complex disease characterized by hyperresponsiveness, obstruction and inflammation of the airways. To date, several studies using different approaches as candidate genes approach, genome wide association studies, linkage...

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Main Authors: Vaillancourt Vanessa T, Bordeleau Martine, Laviolette Michel, Laprise Catherine
Format: Article
Language:English
Published: BMC 2012-11-01
Series:BMC Research Notes
Subjects:
Online Access:http://www.biomedcentral.com/1756-0500/5/630
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author Vaillancourt Vanessa T
Bordeleau Martine
Laviolette Michel
Laprise Catherine
author_facet Vaillancourt Vanessa T
Bordeleau Martine
Laviolette Michel
Laprise Catherine
author_sort Vaillancourt Vanessa T
collection DOAJ
description <p>Abstract</p> <p>Background</p> <p>Asthma is a complex disease characterized by hyperresponsiveness, obstruction and inflammation of the airways. To date, several studies using different approaches as candidate genes approach, genome wide association studies, linkage analysis and genomic expression leaded to the identification of over 300 genes involved in asthma pathophysiology. Combining results from two studies of genomic expression, this study aims to perform an association analysis between genes differently expressed in bronchial biopsies of asthmatics compared to controls and asthma-related phenotypes using the same French-Canadian Caucasian population.</p> <p>Results</p> <p>Before correction, 31 of the 85 genes selected were associated with at least one asthma-related phenotype. We found four genes that survived the correction for multiple testing. The rs11630178 in aggrecan gene (<it>AGC1)</it> is associated with atopy (p=0.0003) and atopic asthma (p=0.0001), the rs1247653 in the interferon alpha-inducible protein 6 <it>(IFI6)</it>, the rs1119529 in adrenergic, alpha-2A-, receptor (<it>ADRA2A)</it> and the rs13103321 in the alcohol dehydrogenase 1B (class I), beta polypeptide (<it>ADH1B),</it> are associated with asthma (p=0.019; 0.01 and 0.002 respectively).</p> <p>Conclusion</p> <p>To our knowledge, this is the first time those genes are associated with asthma and related traits. Consequently, our study confirms that genetic and expression studies are complementary to identify new candidate genes and to investigate their role to improve the comprehension of the complexity of asthma pathophysiology.</p>
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spelling doaj.art-e04681ecfb034e9991a63728eff0c5652022-12-22T01:20:42ZengBMCBMC Research Notes1756-05002012-11-015163010.1186/1756-0500-5-630From expression pattern to genetic association in asthma and asthma-related phenotypesVaillancourt Vanessa TBordeleau MartineLaviolette MichelLaprise Catherine<p>Abstract</p> <p>Background</p> <p>Asthma is a complex disease characterized by hyperresponsiveness, obstruction and inflammation of the airways. To date, several studies using different approaches as candidate genes approach, genome wide association studies, linkage analysis and genomic expression leaded to the identification of over 300 genes involved in asthma pathophysiology. Combining results from two studies of genomic expression, this study aims to perform an association analysis between genes differently expressed in bronchial biopsies of asthmatics compared to controls and asthma-related phenotypes using the same French-Canadian Caucasian population.</p> <p>Results</p> <p>Before correction, 31 of the 85 genes selected were associated with at least one asthma-related phenotype. We found four genes that survived the correction for multiple testing. The rs11630178 in aggrecan gene (<it>AGC1)</it> is associated with atopy (p=0.0003) and atopic asthma (p=0.0001), the rs1247653 in the interferon alpha-inducible protein 6 <it>(IFI6)</it>, the rs1119529 in adrenergic, alpha-2A-, receptor (<it>ADRA2A)</it> and the rs13103321 in the alcohol dehydrogenase 1B (class I), beta polypeptide (<it>ADH1B),</it> are associated with asthma (p=0.019; 0.01 and 0.002 respectively).</p> <p>Conclusion</p> <p>To our knowledge, this is the first time those genes are associated with asthma and related traits. Consequently, our study confirms that genetic and expression studies are complementary to identify new candidate genes and to investigate their role to improve the comprehension of the complexity of asthma pathophysiology.</p>http://www.biomedcentral.com/1756-0500/5/630AsthmaAtopyAtopic asthmaMicroarraysAssociation studyExpression profile<it>AGC1</it><it>ADRA2A</it><it>IFI6</it><it>ADH1B</it>
spellingShingle Vaillancourt Vanessa T
Bordeleau Martine
Laviolette Michel
Laprise Catherine
From expression pattern to genetic association in asthma and asthma-related phenotypes
BMC Research Notes
Asthma
Atopy
Atopic asthma
Microarrays
Association study
Expression profile
<it>AGC1</it>
<it>ADRA2A</it>
<it>IFI6</it>
<it>ADH1B</it>
title From expression pattern to genetic association in asthma and asthma-related phenotypes
title_full From expression pattern to genetic association in asthma and asthma-related phenotypes
title_fullStr From expression pattern to genetic association in asthma and asthma-related phenotypes
title_full_unstemmed From expression pattern to genetic association in asthma and asthma-related phenotypes
title_short From expression pattern to genetic association in asthma and asthma-related phenotypes
title_sort from expression pattern to genetic association in asthma and asthma related phenotypes
topic Asthma
Atopy
Atopic asthma
Microarrays
Association study
Expression profile
<it>AGC1</it>
<it>ADRA2A</it>
<it>IFI6</it>
<it>ADH1B</it>
url http://www.biomedcentral.com/1756-0500/5/630
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