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...

ea0035p1103 | Thyroid Cancer | ECE2014

Single nucleotide polymorphisms associated with papillary thyroid cancer

Kula Dorota , Michal Kalemba , Daria Handkiewicz-Junak , Zbigniew Puch , Malgorzata Kowalska , Monika Kowal , Tomasz Tyszkiewicz , Renata Cyplinska , Joanna Polanska , Barbara Jarzab

Papillary thyroid cancer (PTC) is well known family occurring cancer disease. It is estimated, that ~5% of differentiated thyroid cancers (where PTC is the most frequent) are hereditary. Susceptibility genes are poorly known, however, recently some SNPs located on chromosome 9 in FOXE1 locus (rs965513) and on chromosome 14 (rs944289) close to NKX2-1 locus have been confirmed to be associated with PTC in different populations.The aim of our study was to a...

ea0040p7 | (1) | ESEBEC2016

The genetic screening of RET proto-oncogene in Polish population during the past two decades

Oczko-Wojciechowska Małgorzata , Sromek Maria , Pawlaczek Agnieszka , Czetwertyńska Małgorzata , Kula Dorota , Żebracka-Gala Jadwiga , Rusinek Dagmara , Kowal Monika , Gubała Elżbieta , Szpak-Ulczok Sylwia , Gawlik Tomasz , Zub Renata , Tyszkiewicz Tomasz , Cyplińska Renata , Hasse-Lazar Kornelia , Wygoda Zbigniew , Krajewska Jolanta , Wiench Małgorzata , Dedecjus Marek , Jarzęb Barbara

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...