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

Vaillancourt Vanessa T, Bordeleau Martine, Laviolette Michel et Laprise Catherine. (2012). From expression pattern to genetic association in asthma and asthma-related phenotypes. BMC Research Notes, 5, p. 630.

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Background : 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.

Results : 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 (AGC1) is associated with atopy (p=0.0003) and atopic asthma (p=0.0001), the rs1247653 in the interferon alpha-inducible protein 6 (IFI6), the rs1119529 in adrenergic, alpha-2A-, receptor (ADRA2A) and the rs13103321 in the alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), are associated with asthma (p=0.019; 0.01 and 0.002 respectively).

Conclusion : 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.

Type de document:Article publié dans une revue avec comité d'évaluation
Pages:p. 630
Version évaluée par les pairs:Oui
Sujets:Sciences de la santé > Sciences médicales > Biologie moléculaire
Sciences de la santé > Sciences médicales > Génétique
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:Asthma, Atopy, Atopic asthma, Microarrays, Association study, Expression profile, AGC1, ADRA2A, IFI6, ADH1B, asthme, atopie, asthme allergique, microréseau, étude d'association, profil d'expression
Informations complémentaires:This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Déposé le:28 août 2015 16:01
Dernière modification:29 janv. 2020 15:46
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