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Gene Review:

IBD5 - inflammatory bowel disease 5

Homo sapiens

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Disease relevance of IBD5

METHODS: A total of 1104 unrelated Caucasian subjects with inflammatory bowel disease (IBD) (496 CD, 512 UC, 96 indeterminate) and 750 ethnically matched controls were genotyped for three single nucleotide polymorphisms (SNPs) in the CD associated genes (OCTN1+1672, OCTN2-207, and IGR2230), and two flanking IBD5 tagging SNPs, IGR2096 and IGR3096 [1].
Evidence for association of OCTN genes and IBD5 with ulcerative colitis [1].
BACKGROUND & AIMS: The IBD5 locus on chromosome 5q31 is a confirmed Crohn's disease (CD) susceptibility locus in adults [2].
A univariate analysis detected association between IBD5 and steno/fistulizing behavior in CD patients (OR = 1.9; p = 0.004), and presence of more extensive colitis in UC patients (OR = 1.7; p = 0.01) [3].

High impact information on IBD5

A locus of approximately 250 kb at 5q31 (IBD5) was previously associated with susceptibility to Crohn disease, as indicated by increased prevalence of a risk haplotype of 11 single-nucleotide polymorphisms among individuals with Crohn disease, but the pathogenic lesion in the region has not yet been identified [4].
However, genetic evidence alone is not sufficient to identify the causal mutation within this region, as strong LD across the region results in multiple SNPs having equivalent genetic evidence-each consistent with the expected properties of the IBD5 locus [5].
We previously mapped the IBD5 locus to a large region spanning 18 cM of chromosome 5q31 (P<10(-4)) [5].
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease [6].
RESULTS: The IBD5 OCTN1 and OCTN2 polymorphisms were in strong linkage disequilibrium (D', >0.959) [6].

Chemical compound and disease context of IBD5

A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5) [7].

Biological context of IBD5

These genes encode solute carriers and the association was suggested to be distinct from the background IBD5 risk haplotype [1].
There was no deviation from a multiplicative model of interaction between CARD15 and IBD5 on the penetrance scale [1].
Recently, two polymorphisms in the organic cation transporter (OCTN) gene cluster within the IBD5 locus have been found to be associated with CD [2].
The frequency of the IBD5 homozygous mutant genotype significantly increased in CD patients lacking response to infliximab (RR = 3.88, 95% CI = 1.18-12.0, P<0.05) [8].
The kind of interaction, either genetic heterogeneity or epistasis, between this IBD5 susceptibility region and the NOD2/CARD15 gene mutations was studied as well [8].

Other interactions of IBD5

There have been conflicting reports of the association between markers in the IBD5 region and ulcerative colitis (UC) and interaction (epistasis) between this locus and CARD15 [1].
Although OCTN variants may account for the increased risk of IBD associated with IBD5, a role for other candidate genes within this extended haplotype was not excluded [1].
Evidence is also given for potential interactions between CARD15and IBD2/IBD5 [9].
The carnitine/organic cation transporter (OCTN) on 5q31 (IBD5) is associated with Crohn's disease (CD) and DLG5 (10q23), a member of membrane-associated guanylate kinase (MAGUK) family, with IBD [10].

References

Evidence for association of OCTN genes and IBD5 with ulcerative colitis. Waller, S., Tremelling, M., Bredin, F., Godfrey, L., Howson, J., Parkes, M. Gut (2006) [Pubmed]
Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. Babusukumar, U., Wang, T., McGuire, E., Broeckel, U., Kugathasan, S. Am. J. Gastroenterol. (2006) [Pubmed]
Contribution of IBD5 locus to clinical features of IBD patients. Latiano, A., Palmieri, O., Valvano, R.M., D'Incà, R., Vecchi, M., Ferraris, A., Sturniolo, G.C., Spina, L., Lombardi, G., Dallapiccola, B., Andriulli, A., Devoto, M., Annese, V. Am. J. Gastroenterol. (2006) [Pubmed]
Functional variants of OCTN cation transporter genes are associated with Crohn disease. Peltekova, V.D., Wintle, R.F., Rubin, L.A., Amos, C.I., Huang, Q., Gu, X., Newman, B., Van Oene, M., Cescon, D., Greenberg, G., Griffiths, A.M., St George-Hyslop, P.H., Siminovitch, K.A. Nat. Genet. (2004) [Pubmed]
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Rioux, J.D., Daly, M.J., Silverberg, M.S., Lindblad, K., Steinhart, H., Cohen, Z., Delmonte, T., Kocher, K., Miller, K., Guschwan, S., Kulbokas, E.J., O'Leary, S., Winchester, E., Dewar, K., Green, T., Stone, V., Chow, C., Cohen, A., Langelier, D., Lapointe, G., Gaudet, D., Faith, J., Branco, N., Bull, S.B., McLeod, R.S., Griffiths, A.M., Bitton, A., Greenberg, G.R., Lander, E.S., Siminovitch, K.A., Hudson, T.J. Nat. Genet. (2001) [Pubmed]
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Noble, C.L., Nimmo, E.R., Drummond, H., Ho, G.T., Tenesa, A., Smith, L., Anderson, N., Arnott, I.D., Satsangi, J. Gastroenterology (2005) [Pubmed]
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). Lamhonwah, A.M., Skaug, J., Scherer, S.W., Tein, I. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
IBD5 polymorphisms in inflammatory bowel disease: association with response to infliximab. Urcelay, E., Mendoza, J.L., Martinez, A., Fernandez, L., Taxonera, C., Diaz-Rubio, M., de la Concha, E.G. World J. Gastroenterol. (2005) [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]
Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. Vermeire, S., Pierik, M., Hlavaty, T., Claessens, G., van Schuerbeeck, N., Joossens, S., Ferrante, M., Henckaerts, L., Bueno de Mesquita, M., Vlietinck, R., Rutgeerts, P. Gastroenterology (2005) [Pubmed]

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