Role of the IBD5 susceptibility locus in the inflammatory bowel diseases.
The field of inflammatory bowel disease genetics plays a leading role in the genetics of complex traits. One of the first genetic loci for a complex trait to be identified by genome-wide linkage scans and confirmed by multiple studies was IBD1 for Crohn's disease. Shortly after this initial success, a second susceptibility locus, the IBD5 risk haplotype, was discovered and unequivocally replicated. In this review, we examine the genetics and potential functional implications of the IBD5 locus on disease susceptibility, prognosis, classification, and treatment. In addition, we discuss the challenges faced when the region identified by association contains multiple genes that are not easily separated by recombination-the primary tool of the human geneticist.
Montreal Heart Institute, Université de Montréal, Montréal, Canada.
Claudia
C
Reinhard
John D
JD
Rioux
D002895:Chromosomes, Human, Pair 5; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D019901:Locus Control Region / Q000235:genetics*; D008297:Male; D053473:Nod2 Signaling Adaptor Protein; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein