Endocrine Abstracts

Within any scientific career there is one constant… change. Moving from PhD through to postdoctoral positions we have to constantly evolve to establish ourselves as independent researchers with our own unique research area and group. Academia poses several challenges for early career scientists including obtaining fellowships in an ever increasingly competitive environment, grant funding running out and short term contracts making it difficult to plan life events. Whilst...

Engaging with the public is becoming a key part of any research career and enables us to share our passion for endocrine research with the world, show how charity and government funding for endocrinology leads to new treatments and encourages the next generation of endocrine researchers. Whilst as researchers we are used to presenting our research at conferences and networking with our peers, engaging with the public about our research can be a daunting prospect. This talk wil...

A 44-year-old lady with hypertension and type 2 diabetes of 10 years duration (BMI 47, HbA1c 9.1%) treated with metformin and exenatide presented with a few days history of feeling generally unwell, vomiting and confusion. Initial examination showed pulse 120 per min, BP 115/74 mmHg, normal temperature and multiple abdominal striae. Admission investigations showed Na 140, K 1.4, urea 3.9, creatinine 74, glucose 26, CRP 23 Hb 16.2, WBC 11.6. ABGS on room air showed pH 7.41, PCO...

Genome wide association (GWA) studies have revolutionised the search for new susceptibility loci for complex diseases such as Graves’ disease (GD), by confirming association of known genes and identifying several novel susceptibility loci. The high density lipoprotein binding protein (HDLBP) on chromosome 2q37 is one such novel locus recently identified by the WTCCC as part of a 14 500 nonsynonymous single nucleotide polymorphisms (SNP) screen performed in 900 UK C...

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...

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...

The HLA class II region, CTLA-4 and PTPN22, have been consistently associated with autoimmune disease (AID). Recently, three DNA variants, two of which (M55V and 001Msp) are present in NF-κB inhibitors SUMO-4 and MAP3K7IP2, and one of which (fcrl3_3) modulates NF-κB binding and production of the B cell surface molecule FCRL3, have been reported to be associated with a number of AIDs. The aim of this study was to investigate genetic variati...

Genome wide screens in Graves’ disease (GD) have identified several regions of linkage which may harbour genes which contribute to disease susceptibility. One such region, on chromosome 5q31-33, contains a cytokine cluster which includes interleukin-13 (IL-13). This molecule plays a key role in IgE production, which has been reported to be elevated in patients with GD. Two functional single nucleotide polymorphisms (SNPs), -1112 and +2044, within the IL-13 gene were recen...

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...

Genome wide association screening (GWAS) has proved invaluable in determining otherwise undetected genetic effects for several common endocrine diseases. The largest GWAS performed in Graves’ disease (GD), to date, has not only confirmed association of several known gene regions, including the HLA region, TSHR and FCRL3, but has also identified several other possible regions of association with GD. As GD shares several susceptibility loci with other endocrin...