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...

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...

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...

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findings: Meta-analyses of group-level data from 32 (n=11.019 subjects) and 12 (n=4.479) published and unpublished studies were performed for the association of the A49G polymorphism with ...