Searchable abstracts of presentations at key conferences in endocrinology

ea0015p379 | Thyroid | SFEBES2008

Does the PTPN2 gene exhibit disease specific associations for Graves’ disease?

Storrar Joshua , Newby Paul , Heward Joanne , Franklyn Jayne , Gough Stephen , Simmonds Matthew

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...

ea0015p385 | Thyroid | SFEBES2008

Risk of co-existing autoimmune diseases in 3309 index cases with auto-immune thyroid disease and their relatives

Boelaert Kristien , Newby Paul , Simmonds Matthew , Carr-Smith Jackie , Heward Joanne , Gough Stephen , Franklyn Jayne

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 ...

ea0013oc33 | Society for Endocrinology/Clinical Endocrinology Trust Young Investigator Clinical Prize winner | SFEBES2007

Tag SNP screening of the PDCD1 gene for association with Graves’ disease

Newby Paul , Roberts-Davies Emma , Brand Oliver , Heward Joanne , Franklyn Jayne , Gough Stephen , Simmonds Matthew

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...

ea0013p325 | Thyroid | SFEBES2007

Preliminary evidence for association of PTPN12 with Graves’ ophthalmopathy

Brand Oliver J , Syed Ateeq A , Franklyn Jayne A , Gough Stephen CL , Heward Joanne M , Simmonds Matthew J

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...

ea0014oc1.5 | Thyroid clinical | ECE2007

CTLA- 4 gene polymorphisms and autoimmune thyroid diseases: meta-analyses of published and individual-level data

Kavvoura Fotini , Akamizu Takashi , Awata Takuya , Ban Yoshiyuki , Chistiakov Dimitry , Frydecka Irena , Ghaderi Abbas , Gough Stephen , Hiromatsu Yuji , Ploski Rafal , Wang Pei-Wen , Ban Yoshio , Bednarczuk Tomasz , Chistiakova Emma , Chojm Marcin , Heward Joanne , Hiratani Hitomi , Juo Suh-Hang Hank , Karabon Lidia , Katayama Shigehiro , Kurihara Susumu , Liu Rue-Tsuan , Miyake Ikuyo , Omrani Gholam-Hossein , Pawlak Edyta , Taniyama Matsuo , Tozaki Teruaki , Ioannidis John PA

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 ...