Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp198 | Thyroid - Basic | ECE2016

Differences in gene–gene interactions in Graves’ disease patients stratified by the age of diagnosis

Jurecka-Lubieniecka Beata , Bednarczuk Tomasz , Ploski Rafal , Kula Dorota , Tukiendorf Andrzej , Kolosza Zofia , Jarzab Barbara

Background: The genetic predisposition of Graves’ disease (GD) was proved by the identification of genes with substantial, non-interactive effects on the disease process. It is known, however, that genetic interactions significantly increase the likelihood of immune-tolerance-related complex diseases like allergic asthma and rheumatoid arthritis. In the present study we analyzed the effects of interactions of multiple loci on the genetic predisposition to GD patients....

ea0035p1015 | Thyroid (non-cancer) | ECE2014

Differences in genetic predisposition to Graves' disease and Graves' orbitopathy between young and elderly patients

Jurecka-Lubieniecka Beata , Ploski Rafal , Kula Dorota , Stechly Tomasz , Krol Aleksandra , Bednarczuk Tomasz , Tukiendorf Andrzej , Kolosza Zofia , Jarzab Barbara

Background: Graves’ disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. The pathogenesis of GD and Graves’ orbitopathy (GO) might have a different genetic background – in some patients GO is observed before or late after diagnosis of GD hyperthyroidism. The aim of the study was to assess genetic predisposition to GD and GO in young patients (age of diagnosis ≤30 years of age), in which the time of environ...

ea0035p1129 | Thyroid Cancer | ECE2014

The role of ATM–CHEK2–BRCA1 axis in determination of genetic predisposition and clinical presentation of papillary thyroid carcinoma

Wojcicka Anna , Czetwertynska Malgorzata , Swierniak Michal , Dlugosinska Joanna , Maciag Monika , Czajka Agnieszka , Dymecka Kinga , Kot Adam , Ploski Rafal , Jazdzewski Krystian

Background: Risk of developing papillary thyroid carcinoma (PTC), the most frequent thyroid malignancy, is elevated up to 8.6-fold in the first-degree relatives of PTC patients, what could be explained by polygenic action of low-penetrance alleles. Since the DNA-damaging exposure to ionizing radiation is a known risk factor for thyroid cancer, polymorphisms in DNA repair genes are likely to affect this risk. Among the DNA repair proteins, the ATM–CHEK2–BRCA1 axis see...

ea0035p1139 | Thyroid Cancer | ECE2014

The effect of allelic variants of the thyroid hormone receptor β (THRB) gene on the incidence of papillary thyroid carcinoma

Wojcicka Anna , Roslon Marek , Czetwertynska Malgorzata , Swierniak Michal , Dlugosinska Joanna , Kot Adam , Ploski Rafal , Hromada-Judycka Aneta , Swiech Marta , Jazdzewski Krystian

Objectives: Papillary thyroid carcinoma (PTC) is the most common malignancy of the endocrine system. Its heritability is the highest among common cancers, as evidenced by family-based studies. Thyroid hormone receptor β gene (THRB), a known tumor suppressor, is crucial for the proper thyroid function, therefore its polymorphisms are likely to affect the risk for thyroid cancer.Aim of the study: In order to identify alleles that might modify...

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 ...