Endocrine Abstracts

Graves’ disease (GD) is an autoimmune disorder of the thyroid gland. Autoimmune diseases cluster within families and individuals, leading to the hypothesis of common autoimmunity genes being shared between diseases. This has been confirmed through studies demonstrating association of the HLA region, the CTLA-4 gene and the PTPN22 gene with many disorders including GD and rheumatoid arthritis (RA). We and others have confirmed highly significant association of the R620W SN...

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 ...

The cohort comprised 2296 patients with Graves’ disease (GD) (1920 females, 376 males) and 361 with Hashimoto’s thyroiditis (HT) (313 females, 48 males) recruited using standard diagnostic criteria for investigation of genetic susceptibility to AITD. We investigated variation in disease phenotype with age and gender, examining factors including biochemical severity, presence of goitre and presence of thyroid eye disease (TED) classified by NOSPECS score.<p class=...

Autoimmune thyroid diseases (AITD), Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) cluster in families. We investigated whether having a family history (FH) of AITD altered age of diagnosis. The cohort comprised 2296 GD (1920F,376M) and 361 HT (313F,48M) recruited according to standard diagnostic criteria. We compared age at diagnosis of GD or HT in those with or without a FH of overt hyper- or hypothyroidism (ascertained using a standardised questionnaire).</...

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...