Vitamin D Metabolism Gene Polymorphisms
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  • Release Date: 29 Mar 2023
  • bibliometry
  • calcitriol
  • cancer
  • citation
  • genetic variant
  • genome-wide association study
  • index
  • prohormone
  • publication
  • single nucleotide polymorphism
Video Introduction

This video is adapted from 10.3390/genes14010215

Vitamin D is a fat-soluble vitamin obtained mainly from sun exposure or alternatively from dietary sources and supplements. Vitamin D is a prohormone that requires activation before exhibiting its pharmacological actions. Therefore, it undergoes metabolism in the liver by CYP2R1 and CYP27A1 to yield 25-hydroxyvitamin D (25(OH)D). Further metabolism in the kidney by CYP27B1 yields calcitriol (1, 25(OH)2D3), the active form of vitamin D. Calcitriol binds to the vitamin D receptor (VDR), dimerizes with the retinoid receptor, and translocates to the nucleus to bind to the vitamin D response element. This complex can then induce or repress gene transcription depending on the target gene, either co-activators or co-repressors. Therefore, vitamin D-related disorders may be caused by polymorphic variants of genes coding protein molecules involved in vitamin D metabolism and transport. We conducted a review of research trends for vitamin D gene metabolism polymorphisms.

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Abouzid, M.; Brasic, J.R.; Karaźniewicz-Łada, M.; Abdelazeem, B. Vitamin D Metabolism Gene Polymorphisms. Encyclopedia. Available online: (accessed on 24 February 2024).
Abouzid M, Brasic JR, Karaźniewicz-Łada M, Abdelazeem B. Vitamin D Metabolism Gene Polymorphisms. Encyclopedia. Available at: Accessed February 24, 2024.
Abouzid, Mohamed, James Robert Brasic, Marta Karaźniewicz-Łada, Basel Abdelazeem. "Vitamin D Metabolism Gene Polymorphisms" Encyclopedia, (accessed February 24, 2024).
Abouzid, M., Brasic, J.R., Karaźniewicz-Łada, M., & Abdelazeem, B. (2023, March 29). Vitamin D Metabolism Gene Polymorphisms. In Encyclopedia.
Abouzid, Mohamed, et al. "Vitamin D Metabolism Gene Polymorphisms." Encyclopedia. Web. 29 March, 2023.