Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort.
Eur J Endocrinol
; 188(1)2023 Jan 10.
Article
in En
| MEDLINE
| ID: mdl-36651163
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Addison Disease
/
Cytoskeletal Proteins
/
Adaptor Proteins, Signal Transducing
/
LIM Domain Proteins
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Eur J Endocrinol
Journal subject:
ENDOCRINOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
United kingdom