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Vitamin D deficiency and genetic polymorphisms of Vitamin D-associated genes in Parkinson's Disease
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  • Barnali Ray Basu,
  • Randrita Pal,
  • Supriyo Choudhury,
  • Hrishikesh Kumar,
  • Sanjit Dey,
  • Nilansu Das
Barnali Ray Basu
Surendranath College

Corresponding Author:[email protected]

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Randrita Pal
Surendranath College
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Supriyo Choudhury
Institute of Neurosciences Kolkata
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Hrishikesh Kumar
Institute of Neurosciences Kolkata
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Sanjit Dey
University of Calcutta Faculty Council for Post-Graduate Studies in Science
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Nilansu Das
Surendranath College
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Abstract

Parkinson’s Disease (PD) and vitamin D share a unique link as Vitamin D deficiency (VDD) prevails in PD. Thus, an in-depth understanding of Vitamin D biology in PD might be crucial for therapeutic strategies emphasizing Vitamin D. Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D-associated genes in PD, like VDR (Vitamin D Receptor) or GC (Vitamin D Binding Protein), may aid the process along with polymorphisms of Vitamin D metabolizing genes (e.g., CYP2R1, CYP27A1) in PD. Literature review of single nucleotide polymorphisms (SNPs) related to Vitamin D levels [GC (GC1-rs7041, GC2-rs4588), CYP2R1, CYP24A1, CYP27B1] and Vitamin D function [VDR (FokI - rs2228570, ApaI - rs7976091, BsmI-rs1544410, TaqI-rs731236)] was conducted to explore their relationship with PD severity globally. Furthermore, the DisGeNET database was utilized to explore the gene-disease associations in PD, and STRING alongside Cytoscape was utilized to identify critical genes associated with PD. VDR-FokI polymorphism was reported to be significantly associated with PD in Hungarian, Chinese, and Japanese populations, whereas VDR-ApaI polymorphism was found to affect PD in the Iranian population. However, VDR-TaqI and BsmI polymorphisms had no significant association with PD severity. Conversely, GC1 polymorphisms reportedly affected Vitamin D levels without influencing the disease severity. CYP2R1 (excluding rs1993116) was also reportedly linked to clinical manifestations of PD. Genetic polymorphisms might cause VDD despite enough sunlight exposure and vitamin D-rich food intake, enhancing inflammation, and thereby influencing PD pathophysiology. Knowledge of the polymorphisms associated with vitamin D appears promising for developing new therapeutic strategies against PD.
13 Jan 2023Submitted to European Journal of Neuroscience
14 Jan 2023Submission Checks Completed
14 Jan 2023Assigned to Editor
14 Jan 2023Review(s) Completed, Editorial Evaluation Pending
15 Jan 2023Reviewer(s) Assigned
06 Feb 2023Editorial Decision: Revise Major
05 May 20231st Revision Received
07 May 2023Submission Checks Completed
07 May 2023Assigned to Editor
07 May 2023Review(s) Completed, Editorial Evaluation Pending
07 May 2023Reviewer(s) Assigned
27 May 2023Editorial Decision: Revise Minor
04 Jul 20232nd Revision Received
04 Jul 2023Review(s) Completed, Editorial Evaluation Pending
04 Jul 2023Submission Checks Completed
04 Jul 2023Assigned to Editor
05 Jul 2023Editorial Decision: Accept