Projects / Programmes source: ARRS

Ctla-4 gene polymorphism in patients with autoimmune thyroid disease

Research activity

Code Science Field Subfield
3.07.00  Medical sciences  Metabolic and hormonal disorders   

Code Science Field
B480  Biomedical sciences  Endocrinology, secreting systems, diabetology 
CTLA-4, polymorphism, autoimmune thyroid disease
Evaluation (rules)
source: COBISS
Researchers (4)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  11039  PhD Simona Gaberšček  Medical sciences  Researcher  2003  441 
2.  01900  PhD Sergej Hojker  Medical sciences  Principal Researcher  2003  314 
3.  20485  PhD Blaž Krhin  Medical sciences  Researcher  2003  132 
4.  20484  PhD Katja Zaletel  Medical sciences  Researcher  2003  411 
Organisations (1)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  73,910 
Cytotoxic T lymphocyte associated molucule-4 (CTLA-4) plays an important inhibitory role in T cell activation in the immune response. Therefore, it may be an important factor in the pathogenesis of autoimmune disorders. Many studies of different populations show an association of specific CTLA-4 gene polymorphisms with autoimmune thyroid disease. Recently it has been shown, that CTLA-4 gene is most likely a major thyroid antibody susceptibility gene. However, only a few contradictive data is available on association with clinical and biochemical characteristics in patients with Graves' disease before initiation of treatment. Therefore, the aim of our study is to evaluate the influence of 49 A/G (A/G(49)) exon 1 CTLA-4 polymorphism on Graves' disease development. We will compare the frequency of G allele and GG genotype in patients with healthy control subjects. Furthermore, we will evaluate the influence of polymorphism on thyroid antibody levels, clinical disease presentation and biochemical hyperthyroidism in patients before initiation of treatment. The genotyping will be performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. We expect that Graves' disease will present with higher frequency of G allele carrying genotype compared with healthy control subjects. Furthermore, we assume that G allele will influence higher thyroid antibody production. In contrast, we expect no association of genotype with clinical and biochemical hyperthyroidism in newly diagnosed Graves' patients. The results will help us understand the role of CTLA-4 gene in autoimmune response in autoimmune thyroid disease.
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