Endocrine Abstracts

Recent genome wide screens performed by the Wellcome Trust Case Control Consortium using 500k single nucleotide polymorphisms (SNP) genotyping arrays have detected several novel susceptibility loci for the common autoimmune diseases (AIDs): Crohn’s disease (CD), type 1 diabetes (T1D) and rheumatoid arthritis (RA). PTPN2, which encodes TCPTP an important negative regulator of inflammation, is one such locus. The rs2542151 SNP in PTPN2 was shown to be highly a...

Autoimmune thyroid diseases (AITD), Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are common, but there is limited information on the prevalence of co-existing auto-immune diseases (AID). We prospectively collected 3309 patients with AITD and determined prevalences of other autoimmune diseases in index cases and relatives. Overall, 10.3% of 2806 GD patients and 18.1% of 503 HT subjects reported a co-existing AID. Rheumatoid arthritis was the commonest AID in ...

In addition to the HLA gene region, two further genes involved in the inhibition of T cell signalling, CTLA-4 and PTPN22, have been consistently associated with autoimmune disease (AID), highlighting the important role played by molecules in this pathway in AID susceptibility. The Programmed Cell Death 1 gene (PDCD1) on chromosome 2q37.3 encodes PD-1 which is involved in providing a negative signal to activated T cells. Large case-control studies have show...

Protein tyrosine phosphatases (PTPs) such as PTPN22, that encodes lymphoid tyrosine phosphatase (LYP), are important regulators of cell signalling. LYP, through interaction with various accessory molecules including Grb2 and Csk kinase, has been shown to be particularly important in regulating signal transduction from the T cell receptor. The identification of PTPN22 as a susceptibility locus for Graves’ disease (GD) led us to hypothesise that other PTPs may...

Background: CTLA-4 polymorphisms have been widely examined for their associations with autoimmune thyroid diseases (Graves’ disease [GD] and Hashimoto thyroiditis [HT]) but their relative population effect remains unclear.Methodology/Principal findings: Meta-analyses of group-level data from 32 (n=11.019 subjects) and 12 (n=4.479) published and unpublished studies were performed for the association of the A49G polymorphism with ...