title: Genetic variations in interleukin-12 related genes in immune-mediated diseases.
abstract: The interleukin-12 (IL-12) family comprises a group of heterodimeric cytokines and their respective receptors that play key roles in immune responses. A growing number of autoimmune diseases has been found to be associated with genetic variation in these genes. Based on their respective associations with the IL-12 genes, autoimmune diseases appear to cluster in two groups that either show strong associations with the Th1/Th17 pathway (as indicated by genetic association with IL12B and IL23R) or the Th1/IL-35 pathway as the consequence of their association with polymorphisms in the IL12A gene region. The genetic associations are described in relation to what is known of the functionality of these genes in the various diseases. Comparing association data for gene families in different diseases may lead to better insight in the function of the genes in the onset and course of the disease.
authors: Department of Gastroenterology and Hepatology, VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands. rl.vanwanrooij@vumc.nl
authors: R L J
authors: RL
authors: van Wanrooij
authors: A
authors: A
authors: Zwiers
authors: G
authors: G
authors: Kraal
authors: G
authors: G
authors: Bouma
mesh_terms: D001327:Autoimmune Diseases / Q000145:classification / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D014644:Genetic Variation / Q000276:immunology*; D005838:Genotype; D006801:Humans; D053765:Interleukin-12 Subunit p35 / Q000235:genetics* / Q000276:immunology; D053762:Interleukin-12 Subunit p40 / Q000235:genetics* / Q000276:immunology; D007378:Interleukins / Q000235:genetics / Q000276:immunology; D005810:Multigene Family / Q000276:immunology; D018123:Receptors, Interleukin / Q000235:genetics / Q000276:immunology; D018417:Th1 Cells / Q000276:immunology / Q000473:pathology; D058504:Th17 Cells / Q000276:immunology / Q000473:pathology
chemical_list: C508858:IL12A protein, human; C500879:IL12B protein, human; C515500:IL23R protein, human; D053765:Interleukin-12 Subunit p35; D053762:Interleukin-12 Subunit p40; D007378:Interleukins; D018123:Receptors, Interleukin; C532417:interleukin-35, human