Frequency of CARD15 polymorphisms in patients with Crohn's disease from Toledo, Spain: genotype-phenotype correlation.
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.
De Diego
Carles
C
Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain. cadedi@sescam.jccm.es
Alcántara
Mariano
M
Valle
Julio
J
Pérez-Grueso
María José
MJ
Muñoz-Rosas
Concepción
C
Carrobles
José María
JM
Martínez-Castro
Pedro
P
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
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein