title: NOD2 sequencing in Iranian children with Crohn's disease.
abstract: Crohn's disease (CD) is a chronic inflammatory disease of the gastrointestinal tract. Although the exact etiology of disease is still unknown, mutations in the CARD15/NOD2 gene have been reported in association with CD in several studies. This study was performed to determine whether the CARD15/NOD2 gene confers susceptibility to Iranian pediatric patients with CD. All 12 coding exons of the CARD15/NOD2 gene were sequenced in 16 enrolled pediatric onset CD patients. Sequencing of the CARD15/NOD2 gene showed no mutation. However, two patients harbored polymorphisms within this gene. A heterozygous single nucleotide polymorphism rs3135500 C > Y in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags. The other 5-year-old boy with moderate to severe CD and a history of perianal fissures and oral candidiasis harbored heterozygous single nucleotide polymorphisms in exons 4.1 and 12.1. The results of the present study show that the CARD15/NOD2 mutations in Iranian patients with pediatric onset CD are not responsible for the pathogenesis of disease.
authors.affiliation: Department of Pediatric Gastroenterology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Motamed
authors.forename: M
authors.initials: M
authors.lastname: Najafi
authors.forename: M
authors.initials: M
authors.lastname: Taghvaei
authors.forename: K
authors.initials: K
authors.lastname: Moazzami
authors.forename: F
authors.initials: F
authors.lastname: Farahmand
authors.forename: A
authors.initials: A
authors.lastname: Khodadad
authors.forename: G-H
authors.initials: GH
authors.lastname: Fallahi
authors.forename: N
authors.initials: N
authors.lastname: Parvaneh
authors.forename: G-R
authors.initials: GR
authors.lastname: Khatami
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D002648:Child; D003424:Crohn Disease / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D017422:Sequence Analysis, DNA / Q000706:statistics & numerical data
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein