Endocrine Abstracts

The HLA and CTLA-4 gene regions, on chromosomes 6p21 and 2q33 respectively, have been consistently associated with Graves' disease (GD). Recent data indicate that both DRB1 (in the HLA class II region) and the 3' untranslated region of the CTLA-4 gene are the most likely regions harbouring the aetiological variants for susceptibility to GD. It is not known, however, whether these variants lead to expression of specific sub-phenotypes in subjects with GD, or contribute to disea...

The autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis (HT), are thought to be caused by complex interactions between genetic and environmental factors, which result in an organ-specific autoimmune response being directed against the thyroid gland. GD and HT, although clinically distinct, share many immunological and histological features. Several potential susceptibility genes for AITD have been investigated, although to date only the HLA an...

A number of candidate genes have been investigated as susceptibility loci for the development of Graves' disease. Those which appear to be consistently associated with disease include the HLA and the CTLA-4 gene regions. Polymorphisms of the VDR gene have been shown to increase susceptibility to autoimmune diseases including type 1 diabetes, multiple sclerosis, and Crohn's disease. Recently, an association has also been reported between the VDR gene and autoimmune thyroid dise...

Graves' disease and type 1 diabetes frequently occur together and this would suggest that genetic susceptibility is due to common loci. The insulin (INS) gene region (IDDM2) on chromosome 11p15.5 is linked to, and associated with, type 1 diabetes and it has been suggested that it may be acting as a general autoimmunity locus. Susceptibility is conferred by the variable number of tandem repeats (VNTR); a polymorphic region situated 5' to the INS gene. The class I/I homozygote g...

Background: Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia due to insulin hypersecretion, that can be recognised either early or late in childhood. CHI is associated with adverse neurodevelopmental outcomes. The Vineland Adaptive Behaviour Scales Second Edition (VABS-II) is a parent-report measure of intellectual and developmental functioning, which could be used to screen children with CHI for impairments.Aims: To investigate reli...