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AIM:An insertion mutation at nucleotide 3020(3020insC)in the Caspase recruitment domain gene(CARD15),originally reported as NOD2,is strongly associated withCrohn’s disease.The C-insertion mutation at nucleotide3020(3020inC)in the leucine-rich repeat(LRR)regionresults in a frameshift in the 10~(th)LRR followed by apremature stop codon.This truncation mutation isresponsible for the inability to activate nuclear factor(NF)-κBin response to bacterial lipopolysaccharide(LPS).Thepresent study aimed to genotype NOD2/CARD15 gene3020insC frameshift mutation in Chinese patients withinflammatory bowel disease.METHODS:We genotyped an insertion polymorphismaffecting the leucine-rich region of the protein product bythe allele specific PCR in 74 unrelated patients withulcerative colitis of Hart nationality in Hubei Province ofChina,15 patients with Crohn’s disease and 172 healthyindividuals.RESULTS:No significant differences were found in thegenotype and allele frequencies of the C-insertion mutationof NOD2 gene among patients with Crohn’s disease andulcerative colitis and healthy controls.CONCLUSION:NOD2 gene 3020insC frameshift mutationis not a major contributor to the susceptibility to both Crohn’sdisease and ulcerative colitis in Chinese Han patients.
AIM: An insertion mutation at nucleotide 3020 (3020insC) in the Caspase recruitment domain gene (CARD15), originally reported as NOD2, is strongly associated with Crohn’s disease. The C-insertion mutation at nucleotide 3020 (3020inC) in the leucine-rich repeat ) regionresults in a frameshift in the 10 ~ (th) LRR followed by apremature stop codon. This truncation mutation isresponsible for the inability to activate nuclear factor (NF) -κBin response to bacterial lipopolysaccharide (LPS) .present study aimed at genotype NOD2 / CARD15 gene3020insC frameshift mutation in Chinese patients withinflammatory bowel disease. METHODS: We genotyped an insertion polymorphism in the leucine-rich region of the protein product by the allele specific PCR in 74 unrelated patients with ulcerative colitis of Hart nationality in Hubei Province of China, 15 patients with Crohn’s disease and 172 healthy in patients .RESULTS: No significant differences were found in the genotype and allele frequencies of the C-insertion mutatio nof NOD2 gene among patients with Crohn’s disease and ulcerative colitis and healthy controls. CONCLUSION: NOD2 gene 3020insC frameshift mutation not not major contributor to the susceptibility to both Crohn’s disease and ulcerative colitis in Han patients.