Inflammatory Bowel Disease: Progress Towards a Gene
The pathogenesis of ulcerative colitis (UC) and Crohn’s disease (CD) is still unknown, but the importance of genetic susceptibility has been clearly shown by epidemiological data from family and twin studies. Linkage studies have identified two susceptibility loci for inflammatory bowel disease (IBD...
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| Format: | Article |
| Language: | English |
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Wiley
2000-01-01
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| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2000/361309 |
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| _version_ | 1832548527164620800 |
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| author | David A van Heel Jack Satsangi Alisoun H Carey Derek P Jewell |
| author_facet | David A van Heel Jack Satsangi Alisoun H Carey Derek P Jewell |
| author_sort | David A van Heel |
| collection | DOAJ |
| description | The pathogenesis of ulcerative colitis (UC) and Crohn’s disease (CD) is still unknown, but the importance of genetic susceptibility has been clearly shown by epidemiological data from family and twin studies. Linkage studies have identified two susceptibility loci for inflammatory bowel disease (IBD) on chromosomes 12 and 16. Importantly, these linkages have been replicated by independent investigators, and studies of positional candidates within these regions continue, together with fine mapping strategies. Regions of ’suggestive’ linkage on chromosomes 1, 3, 4, 6, 7, 10, 22 and X have also been reported in individual studies. Other important candidate genes investigated include the interleukin-1 receptor antagonist, MUC3 and genes of the human leukocyte antigen (HLA) system. The apparently conflicting data in different studies from around the world may be explained by ethnic differences, case mix and genetic heterogeneity. Replicated class II HLA associations include HLA DRB1*0103 and DR2 (DRB1*1502), involved in UC susceptibility, and HLA DRB1*03 and DR4 as resistance alleles for CD and UC respectively. Animal studies have provided insights from targeted mutations and quantitative trait locus analysis. The goals of continuing research include narrowing the regions of linkages and analysis of candidate genes, and possibly the application of newly developed methods using single nucleotide polymorphisms. Advances in IBD genetics hold the potential to provide knowledge about the disease pathogenesis at the molecular level, with ensuing benefits for clinical practice. |
| format | Article |
| id | doaj-art-271ed91f2753448b84e8fbc819e7e9e7 |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2000-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-271ed91f2753448b84e8fbc819e7e9e72025-02-03T06:13:47ZengWileyCanadian Journal of Gastroenterology0835-79002000-01-0114320721810.1155/2000/361309Inflammatory Bowel Disease: Progress Towards a GeneDavid A van Heel0Jack Satsangi1Alisoun H Carey2Derek P Jewell3Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UKWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UKOxagen Ltd, Milton Park, Abingdon, UKGastroenterology Unit, Radcliffe Infirmary, Oxford, UKThe pathogenesis of ulcerative colitis (UC) and Crohn’s disease (CD) is still unknown, but the importance of genetic susceptibility has been clearly shown by epidemiological data from family and twin studies. Linkage studies have identified two susceptibility loci for inflammatory bowel disease (IBD) on chromosomes 12 and 16. Importantly, these linkages have been replicated by independent investigators, and studies of positional candidates within these regions continue, together with fine mapping strategies. Regions of ’suggestive’ linkage on chromosomes 1, 3, 4, 6, 7, 10, 22 and X have also been reported in individual studies. Other important candidate genes investigated include the interleukin-1 receptor antagonist, MUC3 and genes of the human leukocyte antigen (HLA) system. The apparently conflicting data in different studies from around the world may be explained by ethnic differences, case mix and genetic heterogeneity. Replicated class II HLA associations include HLA DRB1*0103 and DR2 (DRB1*1502), involved in UC susceptibility, and HLA DRB1*03 and DR4 as resistance alleles for CD and UC respectively. Animal studies have provided insights from targeted mutations and quantitative trait locus analysis. The goals of continuing research include narrowing the regions of linkages and analysis of candidate genes, and possibly the application of newly developed methods using single nucleotide polymorphisms. Advances in IBD genetics hold the potential to provide knowledge about the disease pathogenesis at the molecular level, with ensuing benefits for clinical practice.http://dx.doi.org/10.1155/2000/361309 |
| spellingShingle | David A van Heel Jack Satsangi Alisoun H Carey Derek P Jewell Inflammatory Bowel Disease: Progress Towards a Gene Canadian Journal of Gastroenterology |
| title | Inflammatory Bowel Disease: Progress Towards a Gene |
| title_full | Inflammatory Bowel Disease: Progress Towards a Gene |
| title_fullStr | Inflammatory Bowel Disease: Progress Towards a Gene |
| title_full_unstemmed | Inflammatory Bowel Disease: Progress Towards a Gene |
| title_short | Inflammatory Bowel Disease: Progress Towards a Gene |
| title_sort | inflammatory bowel disease progress towards a gene |
| url | http://dx.doi.org/10.1155/2000/361309 |
| work_keys_str_mv | AT davidavanheel inflammatoryboweldiseaseprogresstowardsagene AT jacksatsangi inflammatoryboweldiseaseprogresstowardsagene AT alisounhcarey inflammatoryboweldiseaseprogresstowardsagene AT derekpjewell inflammatoryboweldiseaseprogresstowardsagene |