[Inflammatory bowel disease: genotype-fenotype relationship].
Inflammatory bowel diseases are complex diseases due to the combination of genetic and environmental factors. Many genes have a limited effect and none is necessary nor sufficient. It has been observed that many of these genes confer susceptibility to specific clinical forms of the disease. So, HLADRB1*0103 confer susceptibility to the pancolitis form of ulcerative colitis and also to Crohn's disease but only with colonic localization. IKBL gene confer susceptibility only to ulcerative colitis, also the pancolitis form and refractary to treatment. NOD2/CARD15 gene confer susceptibility only Crohn's disease with ileal localization with frequent stenosis.
Gómez de la Concha
Emilio
E
Académico de Número.
D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000145:classification / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein; D010641:Phenotype; D011110:Polymorphism, Genetic
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein