Common NOD2/CARD15 alleles and other EXON4 mutations in 527 hungarian patients with Crohn's disease: Genotype-phenotype associations
L Lakatos, PL Lakatos, F Szalay, C Willheim-Polli, Z Tulassay, T Molnar, W Reinisch, C Österreicher, J Papp · Zeitschrift für Gastroenterologie · 2004 · Heft 05
Bibliografische Angaben
Zusammenfassung
Background: Mutations of NOD2/CARD15 gene were identified as genetic markers in Crohn's disease (CD). Our aim was to determine the presence of common NOD2 mutation in 3 cohorts of Hungarian CD patients. Patients and methods: 527 patients with CD (m/f: 265/262, age: 37.1 (SD 7.6)yrs) and 200 healthy subjects were investigated. DNA was screened for possible mutations by denaturing HPLC (WAVE-systems, UK) using published primers for SNP's 8,12, and 13. Mutations were confirmed by direct sequencing on ABI-Prism310 (Perkin Elmer, USA). Results: NOD2/CARD15 mutations were found in 185 (35.1%) patients. SNP8 (10.8% vs.…
