Vitamin D receptor gene polymorphism

Czech version

Authors: M. Pešta
Authors‘ workplace: Centrální laboratoř pro imunoanalýzu Lékařské fakulty UK Plzeň, přednosta prof. MUDr. Ondřej Topolčan, DrSc.
Published in: Vnitř Lék 2012; 58(5): 381-385
Category: Appendix: Vitamin D

Overview

Most biological activities of 1,25-dihydroxyvitamin D is mediated by the nuclear vitamin D receptor (VDR), which acts as a transcription factor activated by ligand. In VDR gene were found many polymorphisms. They are located in 4 regions especially, 1 polymorphic region is located at the 5‘-end of the gene (promoter), 3 polymorphic regions are located at the 3‘-end of the gene. Some gene polymorphisms of the vitamin D receptor affect its function, has been demonstrated its influence on bone density (BMD) or associated with the occurrence of some cancers. However, to what extent affect health status and what role played the complicity polymorphisms of other genes requires further investigation.

Key words:
1,25-dihydroxyvitamin D – vitamin D receptor – VDR – polymorphism

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