VDR and autoimmune diseases

Did you know that vitamin D and its receptor (VDR) play a crucial role in immune regulation? Recent findings by Agliardi et al. (2023) in Biology shed light on how VDR single nucleotide polymorphisms (SNPs) influence autoimmune diseases such as Multiple Sclerosis (MS), Systemic Lupus Erythematosus (SLE), and more.

VDR SNPs, such as ApaI, BsmI, TaqI, and FokI, modulate immune responses, influencing disease susceptibility. The TaqI TT genotype offers protective effects against MS, especially in individuals carrying the HLA-DRB1*15 allele. Ethnic variability highlights the need for multiple population-based studies to better understand these associations.

ApaI: Associated with altered mRNA stability, this SNP is linked to multiple sclerosis and systemic lupus erythematosus risk in certain populations.

BsmI: Modifies VDR translation and has shown associations with autoimmune thyroid diseases.

TaqI: Found near the exon-intron boundary, influencing splicing; protective effects have been observed in specific genetic haplotypes in MS.

FokI: Alters protein length, affecting VDR transcriptional activity; associated with reduced risk of rheumatoid arthritis.

This research connects genetic predisposition, vitamin D metabolism, and immune modulation, paving the way for personalized therapies in autoimmune diseases.

Reference:

Agliardi, C., Guerini, F.R., Bolognesi, E., Zanzottera, M., & Clerici, M. (2023). Single nucleotide polymorphisms of the VDR gene and autoimmunity: a narrative review. Biology, 12(7), 916.

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