Searchable abstracts of presentations at key conferences in endocrinology

ea0028p321 | Steroids | SFEBES2012

Rare variants of sialic acid acetylesterase in autoimmune Addison’s disease

Gan Earn , Mitchell Anna , MacArthur Katie , Pearce Simon

Sialic acid acetylesterase (SIAE) has been found to be essential for the maintenance of immune tolerance in mice by negatively regulating B lymphocyte antigen receptor signalling. Recently, numerous rare heterozygous loss-of-function germline variants and a homozygous functionally defective variant of the SIAE gene (M89V) have been identified as conferring a strong genetic susceptibility to several autoimmune disorders, including T1DM and rheumatoid arthritis. We performed a c...

ea0031p327 | Steroids | SFEBES2013

The role of anti-ACTH1–24 antibodies in synacthen-related adverse events

Gan Earn H , MacArthur Katie , Mitchell Anna L , Crock Patricia , Bensing Sophie , Pearce Simon H S

Background: Immune responses to self-peptides should not generally occur. However, four of 12 autoimmune Addison’s disease (AAD) patients developed adverse reactions immediately after synacthen injections, following repeated subcutaneous synacthen injections during a clinical trial (RoSA study). We wondered if these adverse effects were due to the production of anti-synacthen (ACTH1–24) antibodies.Methods: We evaluated the presence o...

ea0031p318 | Steroids | SFEBES2013

Novel loci for familial autoimmune Addison's disease detected by linkage analysis

Mitchell Anna L , Boe Wolff Anette , Gan Earn H , MacArthur Katie , Erichsen Martina M , Weaver Jolanta U , Vaidya Bijay , Bensing Sophie , Husebye Eystein , Cordell Heather J , Pearce Simon H S

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...

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 ...