title: Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients.
abstract: BACKGROUND
  Recently, the two single nucleotide polymorphisms, rs7927894 on chromosome 11q13.5 and rs877776 within the region of the hornerin gene, were identified as novel susceptibility variants for atopic dermatitis in the first genome wide association study in atopic dermatitis.
  
  
  OBJECTIVE
  The aim of our study was to evaluate the influence of these two genetic variants on atopic dermatitis and disease-related phenotypes in the Austrian population.
  
  
  METHODS
  275 atopic dermatitis patients and 243 controls were genotyped for the two variants rs7927894 and rs877776 by using Taqman based allelic discrimination assays.
  
  
  RESULTS
  When comparing patients with controls we found a significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis (OR: 1.71; CI 1.14-2.59; p=0.010). Subgroup analysis revealed no significant association of rs7927894 with early age of onset of the disease, concomitant asthma and allergic rhinoconjunctivitis, total serum IgE levels and family history of atopy. The analysis of the rs877776 variant showed neither a relevant difference in the allelic distribution between patients and controls nor a statistically significant association with any of the analyzed atopic dermatitis phenotypes.
  
  
  CONCLUSIONS
  In summary our data show a statistically significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis but not with other disease-related phenotypes. Therefore, we assume that the rs7927894 single nucleotide polymorphism selectively influences eczema development. More investigations in distinct study populations are needed to assess the role of this interesting polymorphism in atopic dermatitis.
authors.affiliation: Department of Dermatology, DIAID, Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Waehringer Guertel 18-20 1090 Vienna, Austria. elli.greisenegger@meduniwien.ac.at
authors.forename: Elli K
authors.initials: EK
authors.lastname: Greisenegger
authors.forename: Friedrich
authors.initials: F
authors.lastname: Zimprich
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
authors.forename: Andreas
authors.initials: A
authors.lastname: Gleiss
authors.forename: Tamara
authors.initials: T
authors.lastname: Kopp
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001249:Asthma / Q000150:complications / Q000235:genetics; D001317:Austria; D002135:Calcium-Binding Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000145:classification / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012221:Rhinitis, Allergic, Perennial / Q000150:complications / Q000235:genetics; D055815:Young Adult
chemical_list: D002135:Calcium-Binding Proteins; C503908:HRNR protein, human; D007381:Intermediate Filament Proteins; D007073:Immunoglobulin E
keywords: atopic dermatitis; chromosome 11q13.5; genetic association; polymorphism