title: From expression pattern to genetic association in asthma and asthma-related phenotypes.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Département des sciences fondamentales, Université du Québec à Chicoutimi, 555 boulevard de l'Université, Chicoutimi, Saguenay, Québec, G7H 2B1, Canada.
authors.forename: Vanessa T
authors.initials: VT
authors.lastname: Vaillancourt
authors.forename: Martine
authors.initials: M
authors.lastname: Bordeleau
authors.forename: Michel
authors.initials: M
authors.lastname: Laviolette
authors.forename: Catherine
authors.initials: C
authors.lastname: Laprise
mesh_terms: D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000235:genetics*; D002170:Canada; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D055815:Young Adult