Endocrine Abstracts

The functional interleukin-4 receptor is a heterodimeric complex composed of the IL-4 receptor alpha chain and the common cytokine gamma chain. The interleukin-4 receptor (IL-4R) gene is located on human chromosome 16p12.1-11.2. A polymorphism at codon 50 of the alpha chain alters the receptor response to the Th2 cytokine interleukin-4 (IL-4). The allele with the amino acid isoleucine at position 50 (Ile50) upregulates receptor activity in response to binding with IL-4 ...

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...

Autoimmune thyroid diseases (AITD), such as Graves' disease (GD) and autoimmune thyroiditis (AT), cluster within families and within individuals and exhibit a strong female preponderance. The type 1 diabetes Warren Repository was established between 1989 and 1996 and contains 505 families of British white Caucasian origin. Each family consists of both parents and at least two siblings with type 1 diabetes. We have examined the clinical data collected to establish the frequency...