ECE2014 Poster Presentations Thyroid (non-cancer) (125 abstracts)
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 environmental effects was shorter then in adults and older patients.
Methods: 735 GD patients and 1216 healthy controls from Poland were included in the study. 338 of patients had orbitopathy NOSPECS ≥2. Association analyses were performed between polymorphisms RTSH, genetic variants in genes encoding proteins involved in immune response: HLADRB1*03, CTLA4, CD40, NFKb, PTPN22 and the age of diagnosis of GD.
Results: The carriers of the HLA DRB1*03 allele were more frequent in patients with age of diagnosis ≤30 years then in patients with older age at GD diagnosis. In this young patients the rsl 179247 RTSH was associated with GO. In young GO-free patients, allele A was statistically more frequent and homozygous carriers had a threefold lower risk of disease incidence then patients with AG or GG genotype. Those differences were not found in either elderly patients or the group analyzed as a whole.
Conclusions: HLA DRB1*03 allele is associated with young age at diagnosis of GD.
Allele A of the rsl179247 polymorphism in the RTSH gene is associated with lower risk of GO in young GD patients.