DNA strand intertwined with vitamin D molecules, sunlight rays, and a silhouette of a brain, symbolizing the connection between genetics, vitamin D, and neurological health.

Decoding MS: Can a Gene Variant Predict Your Risk and Disease Progression?

Theo Raines in Health & Wellness December 2025 • 5 min read.

"New research uncovers a potential link between a specific gene variant and multiple sclerosis, offering new perspectives on risk and how the disease unfolds, particularly in men."

Multiple sclerosis (MS) is a complex neurological condition where the body's immune system mistakenly attacks the brain and spinal cord. This leads to a range of symptoms and disabilities. While the exact cause of MS isn't fully understood, scientists believe that a combination of genetic predisposition and environmental factors plays a significant role.

Vitamin D has increasingly become a focus in MS research. This essential nutrient, primarily obtained through sunlight exposure and diet, is known to play a crucial role in bone health and immune function. Studies have shown that people with MS often have lower levels of vitamin D. Furthermore, some research suggests that vitamin D may have a protective effect against the development and progression of MS.

Adding another layer to this complexity, researchers are investigating how genes involved in vitamin D metabolism might influence MS risk. A recent study delved into the connection between specific gene variations and vitamin D levels in individuals with and without MS. The goal was to understand if these genetic differences could help explain why some people are more susceptible to MS and why the disease progresses differently in different individuals.

How Does a Specific Gene Variant Tie Into MS?

DNA strand intertwined with vitamin D molecules, sunlight rays, and a silhouette of a brain, symbolizing the connection between genetics, vitamin D, and neurological health.

The study honed in on five specific variations (called single nucleotide polymorphisms, or SNPs) within two genes: NADSYN1 and CYP2R1. These genes are critical for how our bodies process vitamin D. NADSYN1 is involved in the synthesis of NAD+, a coenzyme important for metabolic reactions, while CYP2R1 plays a key role in converting vitamin D into its active form.

Researchers analyzed blood samples from 105 people with MS and 130 healthy controls, measuring their vitamin D levels and genotyping them for the selected SNPs. The analysis revealed that individuals with MS, on average, had lower vitamin D levels than those without the condition. More interestingly, a particular SNP in the CYP2R1 gene, called rs10766197, showed a significant association with MS risk.

CYP2R1 and Vitamin D Activation: The CYP2R1 gene provides instructions for making an enzyme that converts vitamin D into 25-hydroxyvitamin D3, also known as calcidiol. This is the major circulating form of vitamin D in the body and is used to determine a person's vitamin D status.
NADSYN1 and Cellular Metabolism: The NADSYN1 gene is involved in the production of nicotinamide adenine dinucleotide (NAD+), a crucial coenzyme involved in numerous metabolic processes within cells. NAD+ is essential for energy production, DNA repair, and cell signaling.
SNPs and Genetic Variation: Single nucleotide polymorphisms (SNPs) are variations in a single nucleotide (A, T, C, or G) within a DNA sequence. These variations can occur normally throughout a person’s DNA. SNPs can act as biological markers, helping scientists locate genes associated with disease.

The researchers discovered that the 'A' allele of the rs10766197 SNP was more common in people with MS. This suggests that this specific version of the gene might increase susceptibility to the disease. Further analysis revealed that this association was particularly strong in men. Men with MS were more likely to have the 'A' allele of rs10766197 compared to men without MS.

What Does This Mean for MS Research and Treatment?

These findings highlight the complex interplay between genetics, vitamin D metabolism, and MS. The identification of the CYP2R1 rs10766197 SNP as a potential risk factor, particularly in men, opens new avenues for research into the underlying mechanisms of MS. Further studies are needed to confirm these findings in larger and more diverse populations. Understanding how this gene variant influences vitamin D metabolism and MS risk could lead to more personalized strategies for preventing and managing the disease, potentially taking into account sex-specific differences.

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This article is based on research published under:

DOI-LINK: 10.1002/jnr.24133, Alternate LINK

Title: Association Of Cyp2R1 Rs10766197 With Ms Risk And Disease Progression

Subject: Cellular and Molecular Neuroscience

Journal: Journal of Neuroscience Research

Publisher: Wiley

Authors: Concetta Scazzone, Luisa Agnello, Paolo Ragonese, Bruna Lo Sasso, Chiara Bellia, Giulia Bivona, Rosaria Schillaci, Giuseppe Salemi, Marcello Ciaccio

Published: 2017-08-23

Everything You Need To Know

What is Multiple Sclerosis and what is its significance?

Multiple sclerosis (MS) is a neurological condition where the immune system attacks the brain and spinal cord. This leads to a variety of symptoms and disabilities. The exact cause is not fully understood, but genetics and environmental factors are believed to play a significant role. The identification of gene variants associated with MS risk, such as the CYP2R1 rs10766197 SNP, can help improve understanding of the disease.

What role does the CYP2R1 gene play and how is it connected to Multiple Sclerosis?

The CYP2R1 gene is critical for vitamin D metabolism, specifically converting vitamin D into its active form. The recent study found that a specific Single Nucleotide Polymorphism (SNP), called rs10766197, within the CYP2R1 gene, is associated with increased Multiple Sclerosis (MS) risk, particularly in men. This suggests that variations in vitamin D metabolism, influenced by genes like CYP2R1, may affect an individual's susceptibility to MS. Understanding the link between the CYP2R1 gene and MS risk is important for future research and treatments.

What are Single Nucleotide Polymorphisms (SNPs) and why are they important in the context of this research?

Single Nucleotide Polymorphisms (SNPs) are variations in a single nucleotide within a DNA sequence. These variations can act as biological markers, helping scientists locate genes associated with disease. In the context of Multiple Sclerosis (MS), SNPs in genes like CYP2R1 (specifically rs10766197) have been identified as potential risk factors. Identifying these SNPs is crucial because they can help scientists understand genetic contributions to MS, potentially leading to earlier diagnosis and personalized treatment strategies.

How does Vitamin D connect to Multiple Sclerosis, and what does the research say about it?

Vitamin D is essential for bone health and immune function. Research suggests that people with Multiple Sclerosis (MS) often have lower levels of Vitamin D. The study highlights the relationship between vitamin D, genes, and MS by examining the CYP2R1 and NADSYN1 genes. The CYP2R1 gene is linked to vitamin D metabolism, and the rs10766197 SNP within this gene has been associated with MS risk. This understanding is crucial because it suggests that vitamin D may have a protective effect against MS development and progression.

What is the significance of the study's findings for future MS research and treatment?

The findings on the CYP2R1 rs10766197 SNP have significant implications for Multiple Sclerosis (MS) research and treatment. It suggests that this specific gene variant may increase susceptibility to MS, particularly in men. This opens new avenues for personalized strategies for preventing and managing the disease. Future research can explore how this gene variant influences vitamin D metabolism and MS risk. The implication is that potential treatments might be tailored to individual genetic profiles, considering sex-specific differences in disease progression.