An official website of the United States government
Publication Information
Affiliation
INSERM Avenir U763; AP-HP; Université Paris 7, Hôpital Robert Debré, Paris, France.
Authors
Annese V, Brant SR, Cavanaugh J, Cho J, Fowler EV, Hugot JP, IBD International Genetics Consortium, Jewell DP, Lappalainen M, Parkes M, Rioux JD, Satsangi J, Schreiber S, Silverberg MS, Vermeire S, Yang H, Zaccaria I
Studies
Citation
Hugot JP, Zaccaria I, Cavanaugh J, Yang H, Vermeire S, Lappalainen M, Schreiber S, Annese V, Jewell DP, Fowler EV, Brant SR, Silverberg MS, Cho J, Rioux JD, Satsangi J, Parkes M, IBD International Genetics Consortium. Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. Am J Gastroenterol 2007 Jun;102(6):1259-67. Epub 2007 Feb 23.Abstract
Crohn's disease (CD) has been associated with CARD15/NOD2 mutations in Caucasians. The R702W, G908R, and 1007fs mutations represent 82% of the mutated chromosomes. The relative risk of developing CD in homozygous or compound heterozygous people has been estimated as between 10 and 40 times that of the general population. This high risk may support the opinion that CARD15/NOD2 variants are strong CD risk factors at the individual and population levels.