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Chhabra, Ayushi
- Vitamin D Receptor in Human Health and Disease: An Overview
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1 Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi - 110067, IN
1 Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi - 110067, IN
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Journal of Endocrinology and Reproduction, Vol 26, No 1 (2022), Pagination: 01-23Abstract
Vitamin D Receptor (VDR) is a key regulator of bone metabolism and calcium homeostasis. Various investigations suggest its association with many life-threatening diseases including bone-related disorders, cancers, diabetes, cardiovascular diseases, infectious diseases and metabolic disorders. VDR forms a heterodimeric complex with Retinoid X Receptor (RXR) when activated with 1α,25-dihydroxyvitamin D3 and binds to vitamin D response elements (VDREs) in the DNA sequences located upstream of target genes. Ligand binding and heterodimerization play critical roles in receptor activation and gene regulation. Many studies have shown that any change in VDR function influences target gene functions. Numerous VDR polymorphisms have been reported in various populations around the world. Additionally, a number of case-control studies have established a link between the VDR polymorphism(s) and human diseases. However, some contradictory studies have also been reported. Recent investigations have identified several critical VDR polymorphism(s) that may influence or alter the receptor’s function and contribute to the genesis/etiology of disease states. In this review, we have highlighted and analyzed the relevance of VDR and its polymorphism(s) vis-a-vis risk to some disease conditions. The current review highlights the importance of VDR-SNPs in decoding the importance of a receptor as a transcription factor as well as a molecular marker for diagnosis of diverse health conditions.Keywords
Nuclear Receptors, Polymorphism, Retinoid X Receptor, Transcription Factors, Vitamin D Receptor.
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