Author/Editor		Zaletel, Katja
Title		Vpliv polimorfizma A/G v eksonu 1 gena za citotoksični T limfocitni antigen 4 na tvorbo protiteles in klinično sliko pri bolnikih z avtoimunsko boleznijo ščitnice
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		2002
Volume		str. 55
Language		slo
Abstract		Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an important negative regulator of 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 are available on association with biochemical and clinical characteristics in patients with autoimmune thyroid disease before initiation of treatment. Therefore, the first aim of our research was to evaluate whether G allele of A/G CTLA-4 gene polymorphism in exon 1 at position 49 (49 A/G) is associated with higher thyroid autoantibody levels in patients with autoimmune thyroid disease, including Graves' disease and Hashimoto thyroiditis. We observed three types of thyroid autoantibodies: antibodies against thyroid peroxidase (antiTPO), antibodies against thyroglobulin (antiTg) and thyroid stimulating antibodies (TSI). The second aim of our research was to evaluate the influence of 49 A/G polymorphism on biochemical hyperthyroidism and on clinical disease presentation in newly diagnosed Graves' patients. The observed parameters were goitre size and the presence of Graves' ophthalmopathy. 49 A/G polymorphism was detected using polymerase chain reaction (PCR) to multiply selected DNA sequence and restriction fragment length polymorphism analysis. We investigated 160 patients with autoimmune thyroid disease, including 67 Graves' patients and 93 patients with Hashimoto thyroiditis. In the group of Graves' patients AA genotype was found in 25 patients, AG genotype in 34 patients and GG genotype in 8 patients. (Abstract truncated at 2000 characters).
Descriptors		THYROIDITIS, AUTOIMMUNE T-LYMPHOCYTES, CYTOTOXIC ANTIGENS, CD4 POLYMORPHISM (GENETICS) AUTOANTIBODIES EXONS ALLELES POLYMERASE CHAIN REACTION POLYMORPHISM, RESTRICTION FRAGMENT LENGTH THYROID HORMONES