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Gene Review:

IBD2 - inflammatory bowel disease 2

Homo sapiens

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Disease relevance of IBD2

The strongest linkage evidence in this study was for the subset of extensive ulcerative colitis in the region of IBD2 (lod 3.27; p < 0.001) [1].
One of the potential susceptibility loci for inflammatory bowel disease (IBD2) was localized at 12q13-14 in the vicinity of the deoxyribonucleic acid marker D12S83 by linkage analysis [2].
CONCLUSIONS: American families, particularly Ashkenazim, have significant evidence for the Crohn's disease susceptibility locus, IBD1, on chromosome 16, but not for IBD2 on chromosome 12 [3].

High impact information on IBD2

Identification of multiple candidate genes for IBD susceptibility using high-density transcript mapping in the IBD2 locus on chromosome 12q [4].
BACKGROUND & AIMS: Two European genome-wide screens for inflammatory bowel disease have identified two significant regions of linkage on chromosomes 16 (IBD1) and 12 (IBD2) and two regions with suggestive levels of significance (chromosomes 3p and 7q) [3].
In the present study, we genotyped 581 relative pairs with inflammatory bowel disease (252 from CD-only families, 138 from UC-only families, and 191 from mixed families containing cases of both CD and UC), using 12 markers spanning the IBD2 locus [5].
The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease [5].
A candidate susceptibility gene for IBD2 in this region is the AVIL gene [2].

Biological context of IBD2

No evidence of sex-specific linkage was found in the IBD1 or IBD2 candidate regions of chromosomes 16 and 12 [6].
Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus [1].
We have evaluated AVIL as a candidate susceptibility gene for IBD2 in 24 unrelated patients with evidence of linkage to chromosome 12, as well as in 91 individuals from 19 affected IBD families for putative single nucleotide polymorphisms [2].

Other interactions of IBD2

Evidence is also given for potential interactions between CARD15and IBD2/IBD5 [7].
Absence of an association of the IBD2 locus gene keratin 8 and inflammatory bowel disease in a large genetic association study [8].

References

Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus. Achkar, J.P., Dassopoulos, T., Silverberg, M.S., Tuvlin, J.A., Duerr, R.H., Brant, S.R., Siminovitch, K., Reddy, D., Datta, L.W., Bayless, T.M., Zhang, L., Barmada, M.M., Rioux, J.D., Steinhart, A.H., McLeod, R.S., Griffiths, A.M., Cohen, Z., Yang, H., Bromfield, G.P., Schumm, P., Hanauer, S.B., Cho, J.H., Nicolae, D.L. Am. J. Gastroenterol. (2006) [Pubmed]
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Tümer, Z., Croucher, P.J., Jensen, L.R., Hampe, J., Hansen, C., Kalscheuer, V., Ropers, H.H., Tommerup, N., Schreiber, S. Gene (2002) [Pubmed]
American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12. Brant, S.R., Fu, Y., Fields, C.T., Baltazar, R., Ravenhill, G., Pickles, M.R., Rohal, P.M., Mann, J., Kirschner, B.S., Jabs, E.W., Bayless, T.M., Hanauer, S.B., Cho, J.H. Gastroenterology (1998) [Pubmed]
Identification of multiple candidate genes for IBD susceptibility using high-density transcript mapping in the IBD2 locus on chromosome 12q. Hamlin, P.J., Komolmit, P., Bransfield, K., Jones, P.F., Smith, N.R., Aldersley, M.A., Howdle, P.D., Markham, A.F., Robinson, P.A. Gastroenterology (1999) [Pubmed]
The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease. Parkes, M., Barmada, M.M., Satsangi, J., Weeks, D.E., Jewell, D.P., Duerr, R.H. Am. J. Hum. Genet. (2000) [Pubmed]
Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6. Fisher, S.A., Hampe, J., Macpherson, A.J., Forbes, A., Lennard-Jones, J.E., Schreiber, S., Curran, M.E., Mathew, C.G., Lewis, C.M. Eur. J. Hum. Genet. (2002) [Pubmed]
Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers. Crawford, N.P., Colliver, D.W., Funke, A.A., Young, M.N., Kelley, S., Cobbs, G.A., Petras, R.E., Galandiuk, S. Hum. Mutat. (2005) [Pubmed]
Absence of an association of the IBD2 locus gene keratin 8 and inflammatory bowel disease in a large genetic association study. de Jong, D.J., Drenth, J.P. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. (2004) [Pubmed]

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