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Genetic Determinants of Vitamin D-Related Disorders; Focus on Vitamin D Receptor
Mohamed Abouzid1, Marta Karazniewicz-Lada1, Franciszek Glowka1
1Department of Physical Pharmacy and Pharmacokinetics, Faculty of Pharmacy, Poznan University of Medical Sciences, Poznan, Poland.
Background:
The endocrine system of vitamin D is involved in an extensive variety of biological processes such as bone metabolism, regulation of cell proliferation and differentiation and modulation of the immune response. The active form of vitamin D, 25-hydroxyvitamin D, binds to vitamin D receptor (VDR) controlling the synthesis of many different proteins. Although numerous studies reported polymorphism in the VDR gene, the impact of the polymorphic alleles on VDR protein function remains unknown.
Methods:
We presented a comprehensive review of the evidence on the role of genetic polymorphisms, especially those of VDR, in vitamin D-related disorders including their clinical implications. Relevant papers we identified be an extensive search of bibliographic databases using appropriate keywords.
Results:
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.
Conclusion:
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.
Insights
Vitamin D receptor (VDR) gene polymorphisms may influence health outcomes like osteoporosis. While specific VDR gene variants are linked to diseases, their direct impact on VDR protein function requires further investigation, possibly due to linkage disequilibrium.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Vitamin D is crucial for bone metabolism, cell regulation, and immune response.
- The active form of vitamin D binds to the vitamin D receptor (VDR), influencing protein synthesis.
- VDR gene polymorphisms are frequently studied, but their effect on VDR protein function is unclear.
Purpose of the Study:
- To review evidence on genetic polymorphisms, particularly VDR, in vitamin D-related disorders.
- To explore the clinical implications of VDR gene variants.
Main Methods:
- Comprehensive literature review of relevant studies.
- Extensive search of bibliographic databases using specific keywords.
Main Results:
- VDR gene variants are associated with various biological endpoints, including osteoporosis.
- BsmI, ApaI, and TaqI are common VDR gene polymorphisms studied.
- Non-functional polymorphisms and linkage disequilibrium may explain associations between VDR variants and diseases.
Conclusions:
- Different VDR gene alleles can be associated with the same clinical endpoint across populations.
- Linkage disequilibrium between marker alleles and causative alleles likely varies between populations.
- The precise functional impact of VDR polymorphisms on disease requires further elucidation.
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