title: CARD15 mutations in patients with Crohn's disease in a homogeneous Spanish population.
abstract: OBJECTIVE
  Three mutations in CARD15 have been repeatedly shown to be involved in Crohn's disease susceptibility, mainly in Caucasian individuals. However, those findings were not replicated in all populations studied so far. In this work, we studied the role of CARD15 mutations in a relatively homogeneous population from the Northwest of Spain, Galicia.
  
  
  METHODS
  One hundred and sixty-five patients with Crohn's disease and a similar number of healthy controls were recruited from a single center in Galicia. All individuals were genotyped for the three main Crohn's disease associated CARD15 variants (R702W, G908R, and 1007fs). Association analyses were performed to study the influence of those mutations on Crohn's disease overall and on clinical subphenotypes.
  
  
  RESULTS
  The allele frequencies of CARD15 variants were lower in this population than in most of the European populations studied so far. G908R and 1007fs were significantly associated with overall susceptibility to Crohn's disease. However, these associations were lost after stratification to clinical subgroups, probably due to the small number of cases in these subgroups. Significant associations were found between G908R and 1007fs and the behavior of Crohn's disease, but they were due to the influence of years of disease on the behavior of the disease rather than being the result of a direct effect of these mutations on disease behavior.
  
  
  CONCLUSIONS
  The CARD15 variants G908R and 1007fs, but not R702W, are associated with susceptibility to Crohn's disease in Galicia. Interestingly, the frequency of these mutations appears to be lower than in other Caucasian populations studied so far.
authors.affiliation: Laboratory of Immunogenetics and Department of Gastroenterology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
authors.forename: Manuel
authors.initials: M
authors.lastname: Barreiro
authors.forename: J Enrique
authors.initials: JE
authors.lastname: Domínguez-Muñoz
authors.forename: Aurelio
authors.initials: A
authors.lastname: Lorenzo
authors.forename: Carlos
authors.initials: C
authors.lastname: Zapata
authors.forename: A Salvador
authors.initials: AS
authors.lastname: Peña
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D010641:Phenotype; D013030:Spain
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein