Definition of polymorphisms in the gene encoding the interleukin-12 receptor B1 subunit: testing linkage disequilibrium with type I diabetes susceptibility
- Author(s)
- Tabone, T; Morahan, G;
- Details
- Publication Year 2003-04,Volume 4,Issue #3,Page 222-227
- Journal Title
- GENES AND IMMUNITY
- Publication Type
- Journal Article
- Abstract
- The cytokine interleukin (IL)-12 is bound by a heterodimeric receptor and mediates a range of immunological activities, in particular, favouring the development of uncommitted T cells to the Th1 phenotype. Genes encoding elements of the IL-12 pathway are therefore good candidates for mediating susceptibility or resistance to a range of immune disorders, including Type/diabetes. We made a systematic search for variants in the human gene encoding the low-affinity IL-12 receptor, IL12RB1. Four single-nucleotide polymorphisms and two microsatellite polymorphisms were defined. We also tested these IL12RB1 alleles for involvement in Type I diabetes susceptibility, testing 131 families. Although suggestive evidence for linkage to a susceptibility gene was found, none of the IL12RB1 variants we defined demonstrated preferential transmission in these families.
- Publisher
- NATURE PUBLISHING GROUP
- Keywords
- DISTAL CHROMOSOME 2Q; TYROSINE PHOSPHORYLATION; CYTOKINE; CELLS; IL-12; IDDM; MYCOBACTERIAL; EXPRESSION; FAMILIES; MELLITUS
- Publisher's Version
- https://doi.org/10.1038/sj.gene.6363948
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2003-04-01 12:00:00