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Lookup NU author(s): Dr Claire Jennings, Professor Simon PearceORCiD
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The product of the deleted in colorectal carcinoma (DCC) gene has a role in apoptosis and is a positional candidate for IDDM6, the putative chromosome 18q12-q23 autoimmune disease locus. We hypothesised that a nonconservative substitution (DCC 201 R → G; nucleotide (nt) 601 C → G), located in an extracellular immunoglobulin-like domain of DCC, is an aetiological determinant of autoimmunity. We tested this hypothesis by genetically testing the nt 601 C → G polymorphism for association with three autoimmune phenotypes in a large population-based case-control study. There was no evidence for association of DCC nt 601 C → G with autoimmune disease in cohorts comprising 2253 subjects with rheumatoid arthritis, type I diabetes and Graves' disease, and 2225 control subjects, from New Zealand and the United Kingdom. Furthermore, using the transmission disequilibrium test, there was no significant evidence for biased transmission of the nt 601 C → G polymorphism to probands within a 382 family type I diabetes affected sibpair cohort from the United Kingdom. Thus, the DCC 201 R → G polymorphism does not appreciably influence risk of developing the autoimmune diseases tested.
Author(s): Hall RJ, Merriman ME, Green RA, Markham VH, Smyth DJ, Heward JM, Jennings CE, Braithwaite AW, Cundy T, Darlow BA, Gow PJ, Harrison AA, Highton J, Hunt PJ, Manning P, Pokorny V, Scott RS, Taylor BJ, Willis JA, Yeoman S, McLean L, Gough SCL, Pearce SH, Merriman TR
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2003
Volume: 11
Issue: 11
Pages: 840-844
Print publication date: 01/11/2003
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/sj.ejhg.5201059
DOI: 10.1038/sj.ejhg.5201059
PubMed id: 14571268
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