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Lookup NU author(s): Sophie Howarth, Kathleen Allinson, Dr Salman Razvi, Dr Anna MitchellORCiD, Professor Simon PearceORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Autoimmune Addison's disease (AAD) arises from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. The first genome wide association study (GWAS) with patients from Scandinavian Addison's registries has identified association signals at four novel loci in the genes LPP, SH2B3, SIGLEC5, and UBASH3A.To verify these novel risk loci, we performed a case–control association study in our independent cohort of 420 patients with AAD from the across the UK.We report significant association of alleles of the LPP and UBASH3A genes [odds ratio (95% confidence intervals), 1.46 (1.21-1.75)and 1.40 (1.16-1.68), respectively] with AAD in our UK cohort. In addition, we report nominal association of AAD with SH2B3 [OR 1.18 (1.02-1.35)].We confirm that variants at the LPP and UBASH3A loci confer susceptibility to AAD in a UK population. Further studies with larger patient cohorts are required to robustly confirm the association of SH2B3 and SIGLEC5/SPACA6 alleles.
Author(s): Howarth S, Sneddon G, Allinson KR, Razvi S, Mitchell AL, Pearce SHS
Publication type: Article
Publication status: Published
Journal: European Journal of Endocrinology
Year: 2023
Volume: 188
Issue: 1
Print publication date: 11/01/2023
Acceptance date: 10/11/2022
Date deposited: 31/01/2023
ISSN (print): 0804-4643
ISSN (electronic): 1479-683X
Publisher: Oxford University Press
URL: https://doi.org/10.1093/ejendo/lvac010
DOI: 10.1093/ejendo/lvac010
PubMed id: 36651163
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