IBD and genetics: new developments.
Scand J Gastroenterol Suppl
; (239): 63-8, 2003.
Article
in En
| MEDLINE
| ID: mdl-14743885
ABSTRACT
BACKGROUND:
Inflammatory bowel disease (IBD) is a complex disorder with an aetiology that is only partly 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Inflammatory Bowel Diseases
/
Carrier Proteins
/
Genetic Predisposition to Disease
/
Intracellular Signaling Peptides and Proteins
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Scand J Gastroenterol Suppl
Year:
2003
Document type:
Article
Affiliation country:
Netherlands