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The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis

Lookup NU author(s): Dr Earn Gan, Dr Anna Mitchell, Katie MacArthur, Professor Simon Pearce

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Abstract

Context Genome-wide association studies have discovered various susceptibility alleles that are shared among different autoimmune conditions, implicating several biochemical pathways in the pathogenesis of autoimmunity. A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-surface CD226 (DNAM1) receptor, Gly307Ser (rs763361), has recently been identified as conferring risk to many autoimmune disorders. We performed a case-control study to determine if the CD226 307Ser variant is also associated with autoimmune Addison's disease (AAD). Patient and design We genotyped rs763361 in a UK cohort of 326 AAD subjects [183 with associated autoimmune conditions - autoimmune polyendocrinopathy syndrome type-2 (APS2)] and 311 healthy controls, using a Taqman genotyping assay. Results The susceptibility 'T' allele at rs763361 was found in 50.5% of patients with AAD compared to 46.5% of controls (P-value 0.16, OR 1.17; 95% CI 0.94-1.46). However, comparing the APS2 subgroup to healthy controls, the T allele was found in 53.8% vs 46.5% in controls (OR 1.34; CI 1.04-1.74, P-value 0.03). In contrast, the T allele frequency was 46.2% in isolated Addison's disease (P-value 0.94 vs healthy controls). Conclusion It seems likely that the 307Ser variant of the CD226 receptor is associated with APS2 because of its underlying association with type 1 diabetes and autoimmune thyroid disease. The strength of association in patients with isolated AAD appears to be weak or nonexistent compared to that in APS2.


Publication metadata

Author(s): Gan EH, Mitchell AL, MacArthur K, Pearce SHS

Publication type: Article

Publication status: Published

Journal: Clinical Endocrinology

Year: 2011

Volume: 75

Issue: 2

Pages: 165-168

Print publication date: 06/07/2011

ISSN (print): 0300-0664

ISSN (electronic): 1365-2265

Publisher: Wiley-Blackwell Publishing Ltd.

URL: http://dx.doi.org/10.1111/j.1365-2265.2011.04030.x

DOI: 10.1111/j.1365-2265.2011.04030.x


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