vitamin D Archives - Mohamed Abouzid

VDR is the superstar, what about vitamin D metabolism genes polymorphisms?

By Mohamed Abouzid|2023-03-18T18:04:00+00:00March 18th, 2023|Science, VDR|0 Comments

Vitamin D requires activation to show its pharmacological effect. While most studies investigate the association between vitamin D and disease, only a few focus on the impact of vitamin D metabolism gene polymorphisms (vitDMGPs). This bibliometric study aims to provide an overview of current publications on vitDMGPs (CYP27B1, CYP24A1, CYP2R1, CYP27A1, CYP2R1, DHCR7/NADSYN1), compare them across countries, affiliations, and journals, and inspect keywords, co-citations, and citation bursts to identify trends in this research field. We found that popular studies in the field include genome-wide association studies, genetic variants of vitDMGPs, and vitamin D. CYP24A1 and CYB27A1 were the most explored genes, suggesting more research opportunities for other genes. Unexpectedly, the association between vitDMGPs and cardiovascular diseases is outdated, suggesting further studies covering this point or updating its recent knowledge. The trending topics for the past two years were bile acid metabolism, transcriptome and gene expression, biomarkers, single nucleotide polymorphism, and fibroblast growth factor 23. It is expected that an increase in studies investigating vitDMGPs and coronavirus disease 2019, hypercalcemia, Smith–Lemli–Opitz syndrome, 27-hydroxycholesterol, and mendelian randomization will be noticed. Our full article has been published in genes journal, with an impact factor 4.141. Please use the link below to read the full article. https://www.mdpi.com/2071576 For any questions or comments about the paper, please do not hesitate to contact me.

Vitamin D Receptor and Vitamin D-Related Disorders

We presented a comprehensive review of the evidence on the role of genetic polymorphisms, especially those of vitamin D receptor (VDR), in vitamin D-related disorders including their clinical implications. VDR gene variants seem to influence many biological endpoints, including those related to osteoporosis. BsmI, ApaI, and TaqI are the three adjacent single nucleotide polymorphisms in the VDR gene which have been most frequently studied so far. These polymorphisms are apparently nonfunctional, and one or more functional polymorphism elsewhere in the VDR gene, and linkage disequilibrium may explain the association between VDR genes polymorphisms and common diseases. In different study populations, different alleles of the anonymous restriction fragment length polymorphisms can be found associated with the same endpoint. This effect probably reflects that linkage disequilibrium, between the anonymous marker alleles and the causative alleles in (or very near) the VDR gene, is likely to be different between populations. References Abouzid, Mohamed, Marta Karazniewicz-Lada, and Franciszek Glowka. ‘Genetic Determinants of Vitamin D-Related Disorders; Focus on Vitamin D Receptor’. Current Drug Metabolism 19, no. 12 (2018): 1042–52. https://doi.org/10.2174/1389200219666180723143552.