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
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2003-04-01 12:00:00
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