title: Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.
abstract: OBJECTIVE
  To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn's disease (CD).
  
  
  METHODS
  A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn's disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C-->T, and SLC22A5 -207G-->C mutations was performed by direct sequencing of the specific regions of these genes.
  
  
  RESULTS
  At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profile was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls.
  
  
  CONCLUSIONS
  The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD.
authors.affiliation: Department of Medical Genetics and Child Development, University of Pecs, H-7624 Pecs, Szigeti 12, Hungary.
authors.forename: Judit
authors.initials: J
authors.lastname: Bene
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.forename: Gábor
authors.initials: G
authors.lastname: Talián
authors.forename: Katalin
authors.initials: K
authors.lastname: Komlósi
authors.forename: Beáta
authors.initials: B
authors.lastname: Gasztonyi
authors.forename: Beáta
authors.initials: B
authors.lastname: Tari
authors.forename: Agnes
authors.initials: A
authors.lastname: Várkonyi
authors.forename: Gyula
authors.initials: G
authors.lastname: Mózsik
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D006814:Hungary; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D027701:Organic Cation Transport Proteins; C109807:SLC22A4 protein, human; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters