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PubMed ID:
17319929
Public Release Type:
Journal
Publication Year: 2007
Affiliation: INSERM Avenir U763; AP-HP; Université Paris 7, Hôpital Robert Debré, Paris, France.
DOI:
https://doi.org/10.1111/j.1572-0241.2007.01149.x
Authors:
Jewell DP,
Fowler EV,
Brant SR,
Silverberg MS,
Cho J,
Rioux JD,
Satsangi J,
Parkes M,
IBD International Genetics Consortium,
Yang H,
Cavanaugh J,
Zaccaria I,
Hugot JP,
Vermeire S,
Schreiber S,
Annese V,
Lappalainen M
Studies:
Inflammatory Bowel Disease Genetics
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.
