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%608448
Table of Contents
Cytogenetic location: 3p26 Genomic coordinates (GRCh38) : 3:1-8,100,000
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 (266600).
Satsangi et al. (1996) undertook a systematic screening of the entire genome for identification of susceptibility genes in inflammatory bowel disease involving 186 affected sib pairs from 160 nuclear families. They provided strong evidence for the presence of susceptibility loci for both Crohn disease and ulcerative colitis on chromosomes 3, 7, and 12. Confirmation and fine mapping of a chromosome 3p susceptibility locus in inflammatory bowel disease was provided by Hampe et al. (2001).
Duerr et al. (2002) utilized the transmission/disequilibrium test on a Crohn disease genome scan dataset to detect an IBD locus on chromosome 3p26 (nominal P = 0.000052 and genomewide corrected P = 0.039 at D3S1297). An allele-sharing method showed significant linkage (multipoint lod = 3.69) in a larger, independent sample of IBD-affected sib pairs. A survey of 16 chromosome 3p26 short tandem repeat polymorphisms in a combined sample of 234 independent nuclear families (with 324 IBD-affected sib pairs) showed significant linkage to chromosome 3p26 (multipoint lod = 3.78) and significant transmission/disequilibrium test results at 2 adjacent markers. There was highly significant under-transmission of a common allele and modest over-transmission of other alleles at both markers. Families with no transmission to affected individuals of the under-transmitted alleles showed linkage (multipoint lod = 4.50) that was significantly greater in 4 simulation studies (P less than 0.0001) than the linkage evidence in families with transmission of the under-transmitted alleles (multipoint lod = 0.12).
Duerr, R. H., Barmada, M. M., Zhang, L., Achkar, J.-P., Cho, J. H., Hanauer, S. B., Brant, S. R., Bayless, T. M., Baldassano, R. N., Weeks, D. E. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage. Hum. Molec. Genet. 11: 2599-2606, 2002. [PubMed: 12354785, related citations] [Full Text]
Hampe, J., Lynch, N. J., Daniels, S., Bridger, S., Macpherson, A. J. S., Stokkers, P., Forbes, A., Lennard-Jones, J. E., Mathew, C. G., Curran, M. E., Schreiber, S. Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease. Gut 48: 191-197, 2001. [PubMed: 11156639, images, related citations] [Full Text]
Satsangi, J., Parkes, M., Louis, E., Hashimoto, L., Kato, N., Welsh, K., Terwilliger, J. D., Lathrop, G. M., Bell, J. I., Jewell, D. P. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nature Genet. 14: 199-202, 1996. [PubMed: 8841195, related citations] [Full Text]
DO: 0110886; MONDO: 0012040;
Cytogenetic location: 3p26 Genomic coordinates (GRCh38) : 3:1-8,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3p26 | {Inflammatory bowel disease 9} | 608448 | 2 |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 (266600).
Satsangi et al. (1996) undertook a systematic screening of the entire genome for identification of susceptibility genes in inflammatory bowel disease involving 186 affected sib pairs from 160 nuclear families. They provided strong evidence for the presence of susceptibility loci for both Crohn disease and ulcerative colitis on chromosomes 3, 7, and 12. Confirmation and fine mapping of a chromosome 3p susceptibility locus in inflammatory bowel disease was provided by Hampe et al. (2001).
Duerr et al. (2002) utilized the transmission/disequilibrium test on a Crohn disease genome scan dataset to detect an IBD locus on chromosome 3p26 (nominal P = 0.000052 and genomewide corrected P = 0.039 at D3S1297). An allele-sharing method showed significant linkage (multipoint lod = 3.69) in a larger, independent sample of IBD-affected sib pairs. A survey of 16 chromosome 3p26 short tandem repeat polymorphisms in a combined sample of 234 independent nuclear families (with 324 IBD-affected sib pairs) showed significant linkage to chromosome 3p26 (multipoint lod = 3.78) and significant transmission/disequilibrium test results at 2 adjacent markers. There was highly significant under-transmission of a common allele and modest over-transmission of other alleles at both markers. Families with no transmission to affected individuals of the under-transmitted alleles showed linkage (multipoint lod = 4.50) that was significantly greater in 4 simulation studies (P less than 0.0001) than the linkage evidence in families with transmission of the under-transmitted alleles (multipoint lod = 0.12).
Duerr, R. H., Barmada, M. M., Zhang, L., Achkar, J.-P., Cho, J. H., Hanauer, S. B., Brant, S. R., Bayless, T. M., Baldassano, R. N., Weeks, D. E. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage. Hum. Molec. Genet. 11: 2599-2606, 2002. [PubMed: 12354785] [Full Text: https://doi.org/10.1093/hmg/11.21.2599]
Hampe, J., Lynch, N. J., Daniels, S., Bridger, S., Macpherson, A. J. S., Stokkers, P., Forbes, A., Lennard-Jones, J. E., Mathew, C. G., Curran, M. E., Schreiber, S. Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease. Gut 48: 191-197, 2001. [PubMed: 11156639] [Full Text: https://doi.org/10.1136/gut.48.2.191]
Satsangi, J., Parkes, M., Louis, E., Hashimoto, L., Kato, N., Welsh, K., Terwilliger, J. D., Lathrop, G. M., Bell, J. I., Jewell, D. P. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nature Genet. 14: 199-202, 1996. [PubMed: 8841195] [Full Text: https://doi.org/10.1038/ng1096-199]
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