Open Access Highly Accessed Research article

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

Vanessa T Vaillancourt1, Martine Bordeleau2, Michel Laviolette2 and Catherine Laprise1*

Author Affiliations

1 Département des sciences fondamentales, Université du Québec à Chicoutimi, 555 boulevard de l’Université, Chicoutimi, Saguenay, Québec, G7H 2B1, Canada

2 Institut de cardiologie et de pneumologie de l’Hôpital Laval, Université Laval, 2725, chemin Sainte-Foy, Québec, G1V 4G5, Canada

For all author emails, please log on.

BMC Research Notes 2012, 5:630  doi:10.1186/1756-0500-5-630

Published: 13 November 2012



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.


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).


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.

Asthma; Atopy; Atopic asthma; Microarrays; Association study; Expression profile; AGC1; ADRA2A; IFI6; ADH1B