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Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort.

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.

Publication metadata

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


DOI: 10.1093/ejendo/lvac010

PubMed id: 36651163


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Funder referenceFunder name
MR/J002526/1Medical Research Council (MRC)