PURPOSE: The NOD2 gene is known to have a strong association with Crohn's disease, but different trends were reported in occurrence of NOD2 variants in distinct ethnicities. The aim of this study was to assess all exonic sequences of the NOD2 gene in Iranian Crohn's disease patients and healthy controls to identify any existing variation and evaluate their association with Crohn's disease. METHODS: A total of 90 non-related Crohn's disease patients and 120 sex- and age-matched healthy controls of Iranian origin were enrolled in this study. The participants were referred to a tertiary center in a 2-year period (2006-2008). The exonic regions of the NOD2 gene were amplified by polymerase chain reaction and evaluated by direct sequencing. RESULTS: A total of 21 sequence variations were identified among all exonic regions of the NOD2 gene, of which eight had an allele frequency of more than 5%. Eight new mutations (one in exon 2 and seven in exon 4) were observed. The three main variants (R702W, G908R, and 1007fs) showed allele frequencies of 13.3%, 2.2%, and 1.7%, respectively. Three new variations (P371T, A794P, and Q908H) and R702W mutation were significantly more frequent in Crohn's disease patients compared to controls. CONCLUSIONS: Eight novel mutations were identified in the NOD2 exons, but the pathophysiological importance of these variants remains unclear. Iranian patients with their different genetic reservoirs may demonstrate some novel characteristics for disease susceptibility.
PURPOSE: The NOD2 gene is known to have a strong association with Crohn's disease, but different trends were reported in occurrence of NOD2 variants in distinct ethnicities. The aim of this study was to assess all exonic sequences of the NOD2 gene in Iranian Crohn's diseasepatients and healthy controls to identify any existing variation and evaluate their association with Crohn's disease. METHODS: A total of 90 non-related Crohn's diseasepatients and 120 sex- and age-matched healthy controls of Iranian origin were enrolled in this study. The participants were referred to a tertiary center in a 2-year period (2006-2008). The exonic regions of the NOD2 gene were amplified by polymerase chain reaction and evaluated by direct sequencing. RESULTS: A total of 21 sequence variations were identified among all exonic regions of the NOD2 gene, of which eight had an allele frequency of more than 5%. Eight new mutations (one in exon 2 and seven in exon 4) were observed. The three main variants (R702W, G908R, and 1007fs) showed allele frequencies of 13.3%, 2.2%, and 1.7%, respectively. Three new variations (P371T, A794P, and Q908H) and R702W mutation were significantly more frequent in Crohn's diseasepatients compared to controls. CONCLUSIONS: Eight novel mutations were identified in the NOD2 exons, but the pathophysiological importance of these variants remains unclear. Iranian patients with their different genetic reservoirs may demonstrate some novel characteristics for disease susceptibility.
Authors: J P Hugot; P Laurent-Puig; C Gower-Rousseau; J M Olson; J C Lee; L Beaugerie; I Naom; J L Dupas; A Van Gossum; M Orholm; C Bonaiti-Pellie; J Weissenbach; C G Mathew; J E Lennard-Jones; A Cortot; J F Colombel; G Thomas Journal: Nature Date: 1996-02-29 Impact factor: 49.962
Authors: Stephen E Girardin; Ivo G Boneca; Jérôme Viala; Mathias Chamaillard; Agnès Labigne; Gilles Thomas; Dana J Philpott; Philippe J Sansonetti Journal: J Biol Chem Date: 2003-01-13 Impact factor: 5.157
Authors: Iqbal Siddique; Abu S Mustafa; Islam Khan; Ali H Ziyab; Munira Altarrah; Riyas Sulaiman; Numeer Kadungothayil; Faraz Shaheed Journal: Saudi J Gastroenterol Date: 2021 Jul-Aug Impact factor: 2.485
Authors: Jiun-Sheng Chen; Fulan Hu; Subra Kugathasan; Lynn B Jorde; David Nix; Ann Rutherford; Lee Denson; W Scott Watkins; Sampath Prahalad; Chad Huff; Stephen L Guthery Journal: G3 (Bethesda) Date: 2018-08-30 Impact factor: 3.154