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

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...

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Bibliographic Details
Published in:European journal of endocrinology 2023-01, Vol.188 (1), p.K1-K4
Main Authors: Howarth, Sophie, Sneddon, Georgina, Allinson, Kathleen R, Razvi, Salman, Mitchell, Anna L, Pearce, Simon H S
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Addison Disease - epidemiology
Addison Disease - genetics
Cytoskeletal Proteins - genetics
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
LIM Domain Proteins - genetics
Polymorphism, Single Nucleotide
United Kingdom - epidemiology
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Summary: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.
ISSN:0804-4643
1479-683X
DOI:10.1093/ejendo/lvac010