Searchable abstracts of presentations at key conferences in endocrinology

ea0005p265 | Thyroid | BES2003

Assessment of UK caucasian allele frequencies of known TNF-alpha polymorphisms and their association with Graves' disease

Simmonds M , Nithiyananthan R , Heward J , Franklyn J , Gough S

Tumour necrosis factor-alpha (TNF-alpha) plays an important role in the initiation and regulation of the cytokine cascade during an inflammatory response and is, therefore, a good candidate for involvement in the development of autoimmune disease. The TNF-alpha gene has been mapped to chromosome 6p21.3 and many single nucleotide polymorphisms (SNPs) have been detected within the gene that could affect its function. The allele frequencies of these SNPs and their relationship to...

ea0003oc7 | Genetics: New Insights into Endocrine Disease | BES2002

The vitamin D receptor gene is associated with susceptibility to development of Graves' disease in the UK

Collins J , Heward J , Allahabadia A , Franklyn J , Gough S , Nithiyananthan R

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...