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Link between genotype and clinical features of Crohn’s disease

17 May 2002   |   By Dr Alison Stewart   |   Research article

Last year, three different single-nucleotide mutations in a gene known as NOD2 were shown to be associated with an increased risk of Crohn’s disease, a chronic inflammatory disease of the intestine (see item in May 2001 newsletter). In a further study, one of the three research groups that independently reported this finding has investigated whether specific mutant alleles of NOD2 (now renamed CARD15) are associated with different clinical features of the disease [Hampe, J. et al (2002) Lancet 359, 1661-1665]. Looking at both retrospective and prospectively ascertained cohorts of patients, they found that CARD15 haplotypes containing the SNP13 mutation were associated with an increased risk of disease in the ileum (p=0.006), while haplotypes containing any of the three mutant alleles seemed to increase the risk of right colon disease (p

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