Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc3.3 | Steroids | SFEBES2014

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

Mitchell Anna Louise , Bronstad Ingeborg , Wolff Anette Boe , Narravula Alekhya , Skinningsrud Beate , Husebye Eystein S , Pearce Simon H S

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...

ea0028oc3.6 | Obesity, thyroid and Addison's disease | SFEBES2012

GATA3 polymorphisms are associated with autoimmune Addison’s disease

Mitchell Anna , MacArthur Katie , Gan Earn , Baggott Lucy , Wolff Anette , Skinningsrud Beate , Short Andrea , Kampe Olle , Bensing Sophie , Betterle Corrado , Kasperlik-Zaluska Anna , Czarnocka Barbara , Fichna Marta , Hulting Anna-Lena , Badenhoop Klaus , Falorni Alberto , Ollier William , Undlien Dag , Husebye Eystein , Pearce Simon

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 ...