Searchable abstracts of presentations at key conferences in endocrinology

ea0009p156 | Thyroid | BES2005

Regression mapping of the HLA association with Graves' disease

Simmonds M , Howson J , Heward J , Cordell H , Foxall H , Carr-Smith J , Gibson S , Walker N , Tomer Y , Franklyn J , Todd J , Gough S

Graves' disease (GD) is caused by genetic and environmental factors. To date only the HLA class II region on chromosome 6p21 and the CTLA-4 gene on chromosome 2q33 have been consistently associated with disease. A recent study has indicated the most likely position of the aetiological variant in the CTLA-4 locus to be in a 6.1kb region of the 3' untranslated region of the gene. However the same degree of mapping resolution has not been achieved for the HLA class II region due ...

ea0007p227 | Thyroid | BES2004

No association of a polymorphism in the kozak sequence of the CD40 gene and Graves' disease in a UK Caucasian population

Foxall H , Heward J , Franklyn J , Gough S

Graves' disease (GD) is an autoimmune disease of the thyroid gland with unknown aetiology thought to be caused by a complex interaction between genetic and environmental factors. To date, the HLA region on chromosome 6p21 and the CTLA-4 gene on chromosome 2q33 are thought to account for about 50% of the genetic component of GD with the remaining genetic contribution likely to be made up of many genes each exerting a small effect on predisposition to disease. A recent study (To...

ea0003p155 | Genetics | BES2002

A nonsense mutation in exon two of the DNASE1 gene is not present in UK subjects with SLE and autoimmune thyroid disease

Simmonds M , Heward J , Allahabadia A , Foxall H , Gordon C , Franklyn J , Gough S

Systemic lupus erythematosus (SLE) is characterised by the activation of autoreactive T and B cells and the production of autoantibodies. Concordance rates in monozygotic and dizygotic twins, along with familial clustering, suggest that SLE has a strong genetic component. Moreover, the co-existence of SLE and other autoimmune diseases within individuals, including autoimmune thyroid disease (ATD), suggests a sharing of general autoimmune susceptibility loci. Case control studi...