title: Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort.
abstract: Asthma is a chronic pulmonary disorder that is characterized by airway inflammation and bronchial hyperreactivity. Several genetic loci have been associated with asthma, and some of these associations have been replicated in independent studies. However, larger population-based replication studies for the association of short tandem repeat (STR) polymorphisms with asthma are limited. In this study, we investigated the association of STR polymorphisms in genes encoding mast cell chymase (CMA1), uteroglobin (UGB), tumor necrosis factor-α (TNF-α) and interleukin-4 (IL-4) with asthma and atopic phenotypes in the large population-based Swiss Cohort Study SAPALDIA. Our results show that the STR polymorphism in the CMA1 gene is associated with asthma and that this association is even stronger with atopic asthma. Similarly, we observed a weak association of the IL-4 2-allele with asthma that tended to be stronger for atopic asthma than for nonatopic asthma. This minor IL-4 2-allele was also associated with higher IgE levels, with a higher risk for a positive skin prick test and with a trend for a higher risk for bronchial hyperresponsiveness. These results support previous findings suggesting a role for CMA1 and IL-4 in atopic asthma and for IL-4 in atopy in general.
authors.affiliation: Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich and Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. martin.hersberger@kispi.uzh.ch
authors.forename: Martin
authors.initials: M
authors.lastname: Hersberger
authors.forename: Gian-Andri
authors.initials: GA
authors.lastname: Thun
authors.forename: Medea
authors.initials: M
authors.lastname: Imboden
authors.forename: Anita
authors.initials: A
authors.lastname: Brandstätter
authors.forename: Vanessa
authors.initials: V
authors.lastname: Waechter
authors.forename: Monika
authors.initials: M
authors.lastname: Summerer
authors.forename: Peter
authors.initials: P
authors.lastname: Schmid-Grendelmeier
authors.forename: Andreas
authors.initials: A
authors.lastname: Bircher
authors.forename: Lucia
authors.initials: L
authors.lastname: Rohrer
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Berger
authors.forename: Erich W
authors.initials: EW
authors.lastname: Russi
authors.forename: Thierry
authors.initials: T
authors.lastname: Rochat
authors.forename: Florian
authors.initials: F
authors.lastname: Kronenberg
authors.forename: Nicole
authors.initials: N
authors.lastname: Probst-Hensch
mesh_terms: D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000097:blood / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D016535:Bronchial Hyperreactivity; D053818:Chymases / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D015847:Interleukin-4 / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D012882:Skin Tests; D013557:Switzerland; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics; D014598:Uteroglobin / Q000235:genetics
chemical_list: D014409:Tumor Necrosis Factor-alpha; D015847:Interleukin-4; D007073:Immunoglobulin E; D014598:Uteroglobin; C509226:CMA1 protein, human; D053818:Chymases