engleski

VDR gene polymorphisms in East Croatian families affected by Graves' disease

The human vitamin D receptor (VDR) belongs to the nuclear hormone receptor superfamily and modulates the transcription of target genes in response to 1, 25-dihydroxyvitamin D3, a potent immunomodulatory hormone. The polymorphisms of the VDR gene, which codes for receptor of vitamin D, could be associated with susceptibility to Graves' disease. The aim of our study was to find possible associations of Graves' disease and VDR gene restriction site polymorphisms in Eastern Croatian multiplex-families with Graves' disease. We included 12 patients of both sexes, selected by anamnesis, that have medical history of patient with Graves' disease, and their healthy family members (15 subjects). Control population of 30 subjects without positive family history of thyroid or other autoimmune diseases was also included in this study. Graves' disease was diagnosed on the basis of clinical symptoms, diffuse goiter, biochemical hyperthyroidism, positive thyroid autoantibodies (TPOAT, TRBAb), ophtalmopathy, and elevated radioiodine uptake. VDR allelic polymorphisms were assessed in polymorphonuclear leukocytes by BsmI, ApaI and TaqI endonuclease digestion after specific PCR amplification. Genotypic polymorphisms were defined as XX (no restriction site on both alleles), xx (restriction site on both alleles) and Xx (heterozygotes). The distribution of genotype frequencies differed between subjects with Graves' disease and control subjects. The present results support the associatio of the VDR gene, as non-HLA linked gene, with Graves' disease in East Croatian population.

vitamin D; receptor; polymorphism; Graves' disease; Croatia

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