IBD and genetics: new developments
| Autor: | Gjt Meerman, Plm Jansen, van Hendrik Dullemen, Liekele E. Oostenbrug |
|---|---|
| Přispěvatelé: | Gastroenterology and Hepatology, Center for Liver, Digestive and Metabolic Diseases (CLDM) |
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
SUSCEPTIBILITY LOCI
colitis genotype IBD Nod2 Signaling Adaptor Protein Disease Biology Inflammatory bowel disease digestive system polymorphism symbols.namesake Crohn Disease CLINICAL CHARACTERISTICS NOD2 GENE NOD2 LINKAGE medicine Humans Genetic Predisposition to Disease human Crohn disease/genetics RISK Genetics MUTATIONS pathogenesis Intracellular Signaling Peptides and Proteins Gastroenterology Haplotype Sharing Statistic ASSOCIATION ulcerative/genetics Inflammatory Bowel Diseases medicine.disease Twin study CROHNS-DISEASE Ashkenazi jews digestive system diseases ULCERATIVE-COLITIS Immunology Mendelian inheritance symbols Crohn disease/aetiology founder population Gene polymorphism Carrier Proteins INFLAMMATORY-BOWEL-DISEASE Founder effect |
| Zdroj: | Scandinavian journal of gastroenterology, 38(Suppl. 239), 63-68. Informa Healthcare SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 38, 63-68. Taylor & Francis Group |
| ISSN: | 0036-5521 |
| DOI: | 10.1080/00855920310002717 |
| Popis: | Background: Inflammatory bowel disease (IBD) is a complex disorder with an aetiology that is onlypartly understood. Apart from environmental factors, inheritance contributes to IBD. Review: Family studies show an increased risk among family members of a patient with IBD, particularly among first-degree relatives. In twin studies, concordance for disease type and localization is observed. In genetically isolated groups there is a higher prevalence of IBD. For instance, Ashkenazi Jews carry the highest risk. Further evidence comes from animal species that spontaneously develop IBD. Unlike Mendelian inheritance, in complex genetic diseases like IBD, genes are expected to be low penetrant and therefore less prone to selection, which results in higher expected gene frequencies. NOD2/CARD15, the first gene associated with IBD, is a polymorphic gene involved in the innate immune system. The gene has over 60 variations. Three of these play a role in 27% of patients with CD, with a predilection for patients with ileal disease. Conclusion: Genetics plays an important role in unravelling the pathogenesis of IBD leading to possible new therapeutic approaches. |
| Databáze: | OpenAIRE |
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