Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 35 P1015 | DOI: 10.1530/endoabs.35.P1015

ECE2014 Poster Presentations Thyroid (non-cancer) (125 abstracts)

Differences in genetic predisposition to Graves' disease and Graves' orbitopathy between young and elderly patients

Beata Jurecka-Lubieniecka 1 , Rafal Ploski 2 , Dorota Kula 1 , Tomasz Stechly 1 , Aleksandra Krol 1 , Tomasz Bednarczuk 3 , Andrzej Tukiendorf 4 , Zofia Kolosza 4 & Barbara Jarzab 1

1Department of Nuclear Medicine and Endocrine Oncology, Institute of Oncology, Maria Sklodowska-Curie Memorial Cancer Center, Gliwice Branch, Gliwice, Poland; 2Department of Medical Genetics, Warsaw Medical University, Forensic Medicine, Warsaw, Poland; 3Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland, 4Department of Epidemiology, Center and Institute of Oncology, Gliwice Branch, Maria Sklodowska-Curie Memorial Cancer, Gliwice, Poland.

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.

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