Toggle Main Menu Toggle Search

Open Access padlockePrints

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 MitchellORCiD, Katie MacArthur, Professor Simon PearceORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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.


DOI: 10.1111/j.1365-2265.2011.04030.x


Altmetrics provided by Altmetric


Funder referenceFunder name