hrp0089p1-p052 | Diabetes & Insulin P1 | ESPE2018

Genetic Susceptibility to Type 1 Diabetes in Children: Analysis of Polymorphisms rs1990760 – IFIH1, rs20541 – IL13, rs231775 – CTLA 4

Goralczyk Aleksandra , Bossowski Artur , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

hrp0086p1-p905 | Thyroid P1 | ESPE2016

Association of CTLA4, PADI4 and FTO Polymorphisms with Autoimmune Thyroid Diseases in Male Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...

hrp0082p1-d1-231 | Thyroid | ESPE2014

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children*

Bosswski Artur , Moniuszko Anna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Jakubowska Ewa , Kretowski Adam

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

hrp0084fc13.2 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs2476601 A/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 A/G – TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

hrp0089p1-p269 | Thyroid P1 | ESPE2018

The Association between TSHR, IFIH1 and ETV5 Polymorphisms with Graves’ Disease and Diabetes Mellitus Type 1 in Children

Stozek Karolina , Wawrusiewicz-Kurylonek Natalia , Goscik Joanna , Wasniewska Malgorzata , Aversa Tommaso , Corica Domenico , Kretowski Adam , Bossowski Artur

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...

hrp0082p1-d1-232 | Thyroid | ESPE2014

Chosen Polimorphisms in FoxP3 Gene in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Borysewicz-Sanczyk Hanna , Wawrusiewicz-Kurylonek Natalia , Szalecki Mieczyslaw , Wikiera Beata , Barg Ewa , Mysliwiec Malgorzata , Kucharska Anna , Bossowska Anna , Goscik Joanna , Ziora Katarzyna , Gorska Maria , Kretowski Adam

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...