Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Christian LundtoftDaniel ErikssonMatteo BianchiMaribel Aranda-GuillénNils LandegrenSolbritt Rantapää DahlqvistPeter SöderkvistJennifer R S Meadowsnull nullnull nullnull nullSophie BensingGerli Rosengren PielbergKerstin Lindblad-TohLars RönnblomOlle KämpePublished in: European journal of endocrinology (2023)
We identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.