Endocrine Abstracts

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....

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...

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...

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...