title: Frequency of CARD15 polymorphisms in patients with Crohn's disease from Toledo, Spain: genotype-phenotype correlation.
abstract: Crohn's disease (CD) presents a complex multifactorial etiology with genetic and environmental factors contributing to the disorder. Epidemiological studies have shown that three major CARD15 polymorphisms, R702W, G908R, and 1007fs, are associated with CD. We studied the frequencies of these three polymorphisms in patients from Toledo, Spain, and compared them with the frequencies found in studies of other populations. A total of 183 patients with CD and 172 healthy controls from Toledo, Spain, were included in this study. All of these individuals were genotyped for the three CARD15 polymorphisms R702W, G908R, and 1007fs. Frequencies were analyzed to identify any genotype-phenotype associations. The control population exhibited frequencies of CARD15 polymorphisms similar to the results of previous studies, 3.4%, 1.1%, and 2.0% for the R702W, G908R, and 1007fs polymorphisms, respectively, whereas CD patients had allele frequencies of 7.6%, 3.0%, and 4.6%, respectively. Significant associations were found between the presence of R702W and patients carrying two susceptibility variants with early age of onset and stricturing pattern.
authors.affiliation: Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain. cadedi@sescam.jccm.es
authors.forename: Carles
authors.initials: C
authors.lastname: De Diego
authors.forename: Mariano
authors.initials: M
authors.lastname: Alcántara
authors.forename: Julio
authors.initials: J
authors.lastname: Valle
authors.forename: María José
authors.initials: MJ
authors.lastname: Pérez-Grueso
authors.forename: Concepción
authors.initials: C
authors.lastname: Muñoz-Rosas
authors.forename: José María
authors.initials: JM
authors.lastname: Carrobles
authors.forename: Pedro
authors.initials: P
authors.lastname: Martínez-Castro
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D013030:Spain / Q000453:epidemiology
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein