Advances in genetics of IBD: the NOD2/CARD15 gene

Abstract

During the last few years, significant advances have been
achieved in the understanding of the pathogenesis of inflammatory
bowel diseases (IBD). By gaining new insights, paradigms
that seemed to be a safe basis of our knowledge on
IBD genetics have recently become doubtful. This review discusses
and summarizes recent developments in IBD genetics.
Genetic factors play an important role in the pathogenesis
of IBD, including both ulcerative colitis (UC) and Crohn’s
disease (CD). IBD, are characterized by an abnormal mucosal
immune response to enteric flora in genetically susceptible
individuals. It seems that they comprise complex
genetic disorders with multiple contributing genes. Recent
linkage studies have implicated several genomic regions as
likely to containing IBD susceptibility genes, some observed
uniquely in CD or UC, and others common to both disorders.
The best replicated linkage region, IBD1 (16q12), contains
the CD susceptibility gene, NOD2/CARD15.
Key words: IBD, NOD2/CARD15 gene, genetics, Crohn’s
disease, ulcerative colitis.