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Lookup NU author(s): Dr Claire Jennings, Dr Kate Owen, Dr Valerie Wilson, Professor Simon PearceORCiD
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Objective: A functional polymorphism at codon 55 of the small ubiquitin-like modifier-4 (SUMO4) gene (methionine to valine; M55V) has recently been associated with type 1 diabetes mellitus (T1D). We aimed to establish whether this locus also contributes towards the genetic susceptibility to Graves' disease (GD) and autoimmune Addison's disease. Design: A case-control analysis was performed using genomic DNA samples from 595 unrelated white GD subjects, 104 white autoimmune Addison's disease subjects and 467 healthy white control subjects. The SUMO4 M55V single nucleotide polymorphism (SNP) was genotyped using polymerase chain reaction (PCR) amplification followed by digestion with the restriction enzyme Mse1. Results: There was no association of the SUMO4 M55V alleles with either GD, thyroid-associated orbitopathy or autoimmune Addison's disease when compared to controls; P = 0.28, 0.46 and 0.91, respectively, by χ2 testing. Conclusion: We cannot confirm a generalized role for SUMO4 in autoimmune endocrinopathy. The SUMO4 codon 55 methionine to valine polymorphism may be exclusively associated with susceptibility to T1D, or the effect of the locus in GD and Addison's disease may be much less than that found in T1D patients. © 2005 Blackwell Publishing Ltd.
Author(s): Jennings CE, Owen CJ, Wilson V, Pearce SHS
Publication type: Article
Publication status: Published
Journal: Clinical Endocrinology
Year: 2005
Volume: 62
Issue: 3
Pages: 362-365
ISSN (print): 0300-0664
ISSN (electronic): 1365-2265
Publisher: Wiley-Blackwell Publishing Ltd.
URL: http://dx.doi.org/10.1111/j.1365-2265.2005.02224.x
DOI: 10.1111/j.1365-2265.2005.02224.x
PubMed id: 15730420
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