Searchable abstracts of presentations at key conferences in endocrinology

ea0011p911 | Thyroid | ECE2006

Problems of identifying independent non-class II susceptibility loci within the HLA region for Graves’ disease

Simmonds MJ , Heward JM , Franklyn JA , Gough SCL

The HLA class II region, in particular DRB1/DQA1/DQB1, has been consistently associated with Graves’ disease (GD) for over thirty years. Only recently has work within our own group made progress in narrowing down the etiological variant(s) present within DRB1/DQA1/DQB1, by excluding DQB1, and by mapping association at DRB1 to nine amino acid positions present within the peptide binding domain, with position β74 being the most associated. Independ...

ea0019p387 | Thyroid | SFEBES2009

PTPN22 genotype is a determinant of age of onset of Graves’ disease

Karamat MA , Simmonds MJ , Newby PR , Heward JM , Franklyn JA , Gough SC , Brand OJ

PTPN22, encodes lymphoid tyrosine phosphatise (LYP), an important inhibitor of T lymphocyte activation and has been associated with numerous autoimmune diseases including type 1 diabetes, rheumatoid arthritis, and Graves’ disease (GD). Consistent association has been reported between disease and a non-synonymous SNP +1858 C>T (rs2476601) encoding an Arginine to Tryptophan substitution at amino acid 620 of LYP. Our group was the first to show strong evidence of ...

ea0011p850 | Thyroid | ECE2006

Association of the FCRL3 gene with Graves’ disease in the UK Caucasian population

Simmonds MJ , Heward JM , Carr-Smith J , Franklyn JA , Gough SCL

Recently, linkage between chromosome 1q23 and rheumatoid arthritis within the Japanese population has been narrowed down to association of four single nucleotide polymorphisms (SNPs), fcrl3_3, fcrl3_4, fcrl3_5 and fcrl3_6, within FCRL3, a known regulator of B cell signalling. Of these four SNPs, fcrl3_3 was shown to disrupt FCRL3 expression on B cells, suggesting a potential etiological role. Association of fcrl3_3 was also replicated in a Japanese Graves’ disease ...

ea0011p879 | Thyroid | ECE2006

Prevalence thyroid dysfunction and other autoimmune disorders within the families of subjects with autoimmune thyroid disease – the UK AITD consortium

Manji N , Carr-Smith JD , Simmonds MJ , Allahabadia A , Armitage M , Lazarus J , Pearce S , Viadja B , Franklyn JA , Gough SC

The association of autoimmune thyroid diseases (AITD) with other autoimmune disorders is well documented. Familial prevalence of thyroid dysfunction and other autoimmune diseases was examined in our cohort of 2296 with Graves’ disease (GD) (1920 females, 376 males) and 361 with Hashimoto’s thyroiditis (HT) (313 females, 48 males), probands being recruited using standard diagnostic criteria. FH was ascertained using a standardised structured questionnaire.<p class...