ESPE Abstracts (2018) 89 P-P1-269

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

Karolina Stozeka, Natalia Wawrusiewicz-Kurylonekb, Joanna Goscikc, Malgorzata Wasniewskad, Tommaso Aversad, Domenico Coricad, Adam Kretowskie & Artur Bossowskia


aDepartment of Pediatric Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland; bDepartment of Diabetology, Endocrinology and Internal Medicine, Medical University of Białystok, Bialystok, Poland; cFaculty of Computer Science Bialystok University of Technology, Bialystok, Poland; dDepartment of Human Pathology of Adulthood abd Childhood, University of Messina, Messina, Italy; eDepartment of Endocrinology, Diabetology and Internal Diseases, Medical University of Białystok, Bialystok, Poland


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. Interferon induced helicase (IFIH1) gene tends to be related to development of many autoimmune diseases. ETV5 transcription factor is considered to be obesity-associated loci.

Objective and hypotheses: Identification of genetic variants enabling differentiation between GD and T1DM in children.

Method: The study was performed among 170 patients with GD and 194 with T1DM. Three single nucleotide polymorphisms (SNPs): Rs 179247-TSHR, Rs 1990760- IFIH1 and Rs 7647305- ETV5 were genotyped by TaqMan SNP genotyping using QuantStudio 12 K Flex OpenArray plates.

Results: Rs 179247 A alleles were more frequent in GD in comparison to T1DM patients (P<0.05 with OR=1.35). Rs 1990760 C alleles were more frequent in GD in comparison to T1DM patients (P=0.003 with OR=1.6). Rs 7647305 C alleles were more frequent in GD in comparison to T1DM children (P<0.001 with OR=1.8).

Conclusion: When comparing GD with T1DM, Rs179247 A/G, Rs 1990760 C/T and Rs7647305 C/T polymorphisms could contribute to GD development in children. The main risk factor for Rs 179247 is A allele, for Rs 1990760 is C allele and for Rs 7647305 is C allele.