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VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review.
Cristina Agliardi1, Franca Rosa Guerini1, Elisabetta Bolognesi1
1IRCCS Fondazione Don Carlo Gnocchi ONLUS, LAMMB, 20148 Milan, Italy.
Vitamin D and its receptor (VDR) influence immunity and autoimmune diseases. Specific VDR gene variations (SNPs) may alter the risk of developing these conditions, offering potential therapeutic insights.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- The vitamin D/Vitamin D receptor (VDR) axis is vital for numerous physiological processes, including immune function.
- Autoimmune diseases result from genetic predisposition and environmental triggers, with Vitamin D's role frequently implicated.
- Specific variations in the VDR gene, known as single nucleotide polymorphisms (SNPs), have been linked to autoimmune disorders.
Purpose of the Study:
- To review the scientific literature on the role of Vitamin D/VDR in autoimmunity.
- To summarize evidence linking specific VDR gene SNPs (ApaI, BsmI, TaqI, FokI) to the pathogenesis of autoimmune diseases.
- To explore the potential of understanding these molecular mechanisms for novel therapeutic strategies.
Main Methods:
- Literature review of scientific studies.
- Analysis of evidence connecting VDR SNPs to autoimmune conditions.
- Synthesis of data on the molecular mechanisms involved.
Main Results:
- The vitamin D/VDR complex regulates genes involved in both innate and adaptive immunity.
- Certain VDR SNP alleles and genotypes are associated with a modified risk of developing various autoimmune diseases.
- These genetic variations can either increase or decrease the likelihood of disease onset.
Conclusions:
- The VDR gene's SNPs are implicated in the susceptibility and development of autoimmune conditions.
- Understanding the interplay between Vitamin D/VDR signaling and autoimmunity is crucial.
- This knowledge may pave the way for developing new therapeutic approaches for autoimmune disorders.
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