作者: Judy H Cho
DOI: 10.1155/2006/561643
关键词: Genetic variation 、 Mutation 、 Disease 、 NOD2 、 Ulcerative colitis 、 Genetic disorder 、 Immunology 、 Medicine 、 Concordance 、 Inflammatory bowel disease
摘要: The opinion that finding inflammatory bowel disease (IBD) genes will lead to a cure is based on the fact genetic variation provides vast reservoir of information specific individual patients only beginning be acknowledged large scale. Complementary this that, in many respects, IBD represents an ideal disorder(s). First, significant role genetics firmly established familial clustering observed, combined with significantly higher concordance monozygotic twins compared dizygotic (1). diagnostic pathogenic certainty associated diagnoses Crohn’s (CD) and ulcerative colitis (UC) high; heterogeneity probably exists clinically similar cases but likely relatively limited. Compared other multigenic disorders, relevant tissues – peripheral blood leukocytes intestinal are easy obtain for expression studies. There numerous, excellent animal models exist (2) which several lines evidence provide correlative support humans. at least two well-replicated associations nucleotide oligomerization domain 2/caspase activation recruitment 15 (NOD2/CARD15) (3,4) IBD5 chromosome 5q (5,6) holds out promise increased understanding pathophysiology accrue from approaches. At three mechanisms can defined through effect cures IBD. if effective, preventive approaches developed, feasibly powered studies require identification prospective follow-up high-risk individuals best achieved testing genes. Second, genuine risk alleles often very novel insights into pathogenesis fundamentally change existing paradigms pathogenesis. Finally, refine key pathways human