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Gene Review:

IBD3 - inflammatory bowel disease 3

Homo sapiens

Duerr, R.H. et al., Ahmad, T. et al., Fisher, S.A. et al., Barmada, M.M. et al., Lantermann, A. et al., et al.

Ahmad, Marshall, Jewell, van Heel, Udalova, De Silva, McGovern, Kinouchi, Hull, Lench, Cardon, Carey, Jewell, Kwiatkowski, Dechairo, Dimon, van Heel, Mackay, Edwards, Scambler, Jewell, Cardon, Lench, Carey, Duerr, Barmada, Zhang, Pfützer, Weeks, Fisher, Hampe, Macpherson, Forbes, Lennard-Jones, Schreiber, Curran, Mathew, Lewis,

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Disease relevance of IBD3

Tumour necrosis factor-alpha (TNF) expression is increased in inflammatory bowel disease (IBD), and TNF maps to the IBD3 susceptibility locus [1].
IBD1 and IBD3 determine location of Crohn's disease in the Spanish population [2].
We also find confirmatory evidence for linkage between the IBD3 locus and Crohn's disease (lod = 2.26 at D6S2439) but not ulcerative colitis or inflammatory bowel disease [3].

High impact information on IBD3

Other IBD genomic regions include IBD2 on chromosome 12q (observed more in UC), and IBD3, containing the major histocompatibility complex region [4].
Recent genome scans and replication studies have identified replicated linkage between CD and a locus on chromosome 16 (the IBD1 locus), replicated linkage between IBD (especially UC) and a locus on chromosome 12q (the IBD2 locus), and replicated linkage between IBD (especially CD) and a locus on chromosome 6p (the IBD3 locus) [5].
The donor and recipient had several haplotype mismatches in HLA class III genes at the IBD3 locus [6].
The major histocompatibility region on chromosome 6p, referred to as IBD3, showed evidence of male-specific linkage with a maximum LOD score of 5.9 in both CD and UC male-affected families [7].
Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3) [8].

Biological context of IBD3

Genetic linkage analysis has identified and replicated several genomic regions as locations for susceptibility genes, including chromosome 6p (termed IBD3) [9].
Consistent evidence of linkage to IBD3 (6p21.1-23), an area which encompasses the HLA complex, has been demonstrated for both Crohn's disease and ulcerative colitis, and a number of replicated associations with disease susceptibility and phenotype have recently emerged [10].

References

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. van Heel, D.A., Udalova, I.A., De Silva, A.P., McGovern, D.P., Kinouchi, Y., Hull, J., Lench, N.J., Cardon, L.R., Carey, A.H., Jewell, D.P., Kwiatkowski, D. Hum. Mol. Genet. (2002) [Pubmed]
IBD1 and IBD3 determine location of Crohn's disease in the Spanish population. Fernandez, L., Mendoza, J.L., Martinez, A., Urcelay, E., Fernandez-Arquero, M., Garcia-Paredes, J., Peña, A.S., Diaz-Rubio, M., de la Concha, E.G. Inflamm. Bowel Dis. (2004) [Pubmed]
A genome scan in 260 inflammatory bowel disease-affected relative pairs. Barmada, M.M., Brant, S.R., Nicolae, D.L., Achkar, J.P., Panhuysen, C.I., Bayless, T.M., Cho, J.H., Duerr, R.H. Inflamm. Bowel Dis. (2004) [Pubmed]
The genetics of inflammatory bowel disease. Bonen, D.K., Cho, J.H. Gastroenterology (2003) [Pubmed]
High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. Duerr, R.H., Barmada, M.M., Zhang, L., Pfützer, R., Weeks, D.E. Am. J. Hum. Genet. (2000) [Pubmed]
Fulminant Crohn's colitis after allogeneic stem cell transplantation. Sonwalkar, S.A., James, R.M., Ahmad, T., Zhang, L., Verbeke, C.S., Barnard, D.L., Jewell, D.P., Hull, M.A. Gut (2003) [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]
Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). Dechairo, B., Dimon, C., van Heel, D., Mackay, I., Edwards, M., Scambler, P., Jewell, D., Cardon, L., Lench, N., Carey, A. Eur. J. Hum. Genet. (2001) [Pubmed]
Investigation of HLA-DPA1 genotypes as predictors of inflammatory bowel disease in the German, South African, and South Korean populations. Lantermann, A., Hampe, J., Kim, W.H., Winter, T.A., Kidd, M., Nagy, M., Fölsch, U.R., Schreiber, S. International journal of colorectal disease. (2002) [Pubmed]
Genetics of inflammatory bowel disease: the role of the HLA complex. Ahmad, T., Marshall, S.E., Jewell, D. World J. Gastroenterol. (2006) [Pubmed]

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