Related Experiment Video
Updated: Aug 14, 2026

A Method of Trigonometric Modelling of Seasonal Variation Demonstrated with Multiple Sclerosis Relapse Data
Published on: December 9, 2015
[Population genetic correlation of vitamin D receptor polymorphisms with clinical disorders]
Balázs Gyórffy1, András Szabó, Barna Vásárhelyi
1Semmelweis Egyetem Altalános Orvostudományi Kar, I. Gyermekklinika, Budapest. zsalab2@freemail.hu
Abstract:
Calcitriol, the active metabolite of Vitamin D (1,25(OH)2D3) has several major roles in the body: hormonal regulation of calcium and phosphate-homeostasis, regulation of parathormone synthesis and modulation of the immune and endocrine systems. Due to its antiproliferative effects it also plays a role in tumour development. The calcitriol can have these differential effects as it is modulating gene expression in the cell nucleus. The effects of vitamin D are mediated by the nuclear vitamin D receptor, which heterodimerizes with the retinoid X receptor and changes gene transcription. Until now 5 single nucleotide polymorphisms of the vitamin D receptor gene have been identified. This review summarizes the identified effects of vitamin D receptor polymorphisms on bone homeostasis, on the parathyroid function, on diversal tumours and on diabetes.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenomics: Identification of New Drug Targets
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
