Endocrine Abstracts

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...

Autoimmune Addison’s disease (AAD) is a rare, highly heritable endocrinopathy with an estimated λsibling (ratio of risk to a sibling vs the unrelated background population) of 160–210. The majority of the genetic risk to AAD has yet to be accounted for. We have used a tag-SNP approach to seek association between single nucleotide polymorphisms (SNPs) in the GATA3 gene and autoimmune Addison’s disease (AAD). 2001 AAD cases and 1898 controls were included in ...