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575.1/.2:616.441-006.5(477-) (1) |
Genetică generală. Citogenetică generală (427) |
Patologia sistemului limfatic, a organelor hemopoietice şi endocrine (189) |
SM ISO690:2012 ŞEREMET, Mihai, SYDORCHUK, L. P., SHIDIOVSKYI, Viktor, BEDENYUK, Anatoly, SYDORCHUK, R. I., BATIG, Viktor, KUROCHKIN, G. S., LEVIŢCHI, Alexei, CHYMPOI, Kristina. Effect of APO-1/Fas, CTLA-4 and BCL-2 genes polymorphisms on the risk of goiter nodular forms with autoimmune thyroiditis occurrence among the bukovinian population. In: Archives of the Balkan Medical Union, 2017, nr. 2(52), pp. 144-151. ISSN 1584-9244. |
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Archives of the Balkan Medical Union | ||||||
Numărul 2(52) / 2017 / ISSN 1584-9244 | ||||||
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CZU: 575.1/.2:616.441-006.5(477-) | ||||||
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Introduction: Autoimmune thyroiditis (AIT) is one of the unsolved problems of modern endocrinology, as the issue of its insufficient etiology and pathogenesis comes now clear. Cytokines play an important role in the regulation of immune and inflammatory response, as the genes that encode them are seen as potential candidates for the risk of autoimmune thyroid pathology. However, a number of unsolved issues remains, in particular related to the role of genetic factors in the development of AIT. Objectives: To analyze the frequency of polymorphic variants of genes BCL-2(rsl7759659), CTLA-4(rs231775), APO-1/Fas (rs2234767) in patients with thyroid pathology regarding its forms: nodular goiter with autoimmune thyroiditis (NGAIT) and thyroid adenoma (TA). Methods: The BCL-2(rsl7759659), CTLA-4(rs231775), Fas (rs2234767) genes polymorphism was studied by Real-Time Polymerase Chain Reaction in 95 patients with NGAIT, 30 patients with TA and 25 healthy individuals. The thyroid gland (TG) functional activity changes (normal function, subclinical and clinical hypothyroidism) and TG hyperplasia degrees (IB, II and IID were analyzed. Results: Mutation of BCL-2 (rsl7759659) and CTLA-4 (rs231775) genes in the homozygous state among resident's adult population of Northern Bukovina occurs with a frequency of 3.2-4.0%, no reliable difference between patients and healthy subjects. Mutations of the gene APO-1/Fas (rs2234767) in the homozygous state are not observed. The nature of allelic distribution set: parity ratio between the main A and G minor allelesjof the BCL-2 gene (52% versus 48% of patients; p> 0.05) and 54% against 46% - healthy subjects (p> 0.05)) A dominance of wild-allele mutation of the G-allele CTLA-4 gene 2.57 times among patients (χ2= 96.8; p <0.001), and 3.54 times among healthy subjects (χ2 = 31.36; p <0.001); and the prevalence of G-allele mutation of the A-allele gene Fas - 9.87 times in patients (90.8% vs. 9.2%, p <0.001) and.7.33 times - in healthy subjects (88 % vs. 12%, (χ2 = 57.76; p <0.001). Conclusions. Pathology of the thyroid gland in general has unreliable chances to be inherited depending on the polymorphism of BCL-2(rsl7759659), CTLA-4 (rs231775) and Fas (rs2234767) genes in Bukovina region (Western Ukraine). Copyright |
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Cuvinte-cheie autoimmune thyroiditis, CTLA-4 and BCL-2, Genes polymorphisms APO-1/Fas, nodular goiter |
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<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'> <dc:creator>Şeremet, M.</dc:creator> <dc:creator>Sydorchuk, L.</dc:creator> <dc:creator>Shidiovskyi, V.O.</dc:creator> <dc:creator>Bedenyuk, A.D.</dc:creator> <dc:creator>Sydorchuk, R.</dc:creator> <dc:creator>Batig, V.M.</dc:creator> <dc:creator>Curocichin, G.S.</dc:creator> <dc:creator>Leviţchi, A.V.</dc:creator> <dc:creator>Chympoi, K.A.</dc:creator> <dc:date>2017-06-01</dc:date> <dc:description xml:lang='en'><p>Introduction: Autoimmune thyroiditis (AIT) is one of the unsolved problems of modern endocrinology, as the issue of its insufficient etiology and pathogenesis comes now clear. Cytokines play an important role in the regulation of immune and inflammatory response, as the genes that encode them are seen as potential candidates for the risk of autoimmune thyroid pathology. However, a number of unsolved issues remains, in particular related to the role of genetic factors in the development of AIT. Objectives: To analyze the frequency of polymorphic variants of genes BCL-2(rsl7759659), CTLA-4(rs231775), APO-1/Fas (rs2234767) in patients with thyroid pathology regarding its forms: nodular goiter with autoimmune thyroiditis (NGAIT) and thyroid adenoma (TA). Methods: The BCL-2(rsl7759659), CTLA-4(rs231775), Fas (rs2234767) genes polymorphism was studied by Real-Time Polymerase Chain Reaction in 95 patients with NGAIT, 30 patients with TA and 25 healthy individuals. The thyroid gland (TG) functional activity changes (normal function, subclinical and clinical hypothyroidism) and TG hyperplasia degrees (IB, II and IID were analyzed. Results: Mutation of BCL-2 (rsl7759659) and CTLA-4 (rs231775) genes in the homozygous state among resident's adult population of Northern Bukovina occurs with a frequency of 3.2-4.0%, no reliable difference between patients and healthy subjects. Mutations of the gene APO-1/Fas (rs2234767) in the homozygous state are not observed. The nature of allelic distribution set: parity ratio between the main A and G minor allelesjof the BCL-2 gene (52% versus 48% of patients; p> 0.05) and 54% against 46% - healthy subjects (p> 0.05)) A dominance of wild-allele mutation of the G-allele CTLA-4 gene 2.57 times among patients (χ<sup>2</sup>= 96.8; p <0.001), and 3.54 times among healthy subjects (χ<sup>2</sup> = 31.36; p <0.001); and the prevalence of G-allele mutation of the A-allele gene Fas - 9.87 times in patients (90.8% vs. 9.2%, p <0.001) and.7.33 times - in healthy subjects (88 % vs. 12%, (χ<sup>2</sup> = 57.76; p <0.001). Conclusions. Pathology of the thyroid gland in general has unreliable chances to be inherited depending on the polymorphism of BCL-2(rsl7759659), CTLA-4 (rs231775) and Fas (rs2234767) genes in Bukovina region (Western Ukraine). Copyright</p></dc:description> <dc:source>Archives of the Balkan Medical Union 52 (2) 144-151</dc:source> <dc:subject>autoimmune thyroiditis</dc:subject> <dc:subject>CTLA-4 and BCL-2</dc:subject> <dc:subject>Genes polymorphisms APO-1/Fas</dc:subject> <dc:subject>nodular goiter</dc:subject> <dc:title>Effect of APO-1/Fas, CTLA-4 and BCL-2 genes polymorphisms on the risk of goiter nodular forms with autoimmune thyroiditis occurrence among the bukovinian population</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> </oai_dc:dc>