This is a simplified summary of the research "Association of HLA-DRA, HLA-DQA1, and IL-6 gene variations with susceptibility to multiple sclerosis" published in Springer Nature 11th July 2025.
Simple Summary
Background:
Multiple sclerosis (MS) is a long-term disease where the immune system attacks the brain and spinal cord. It can cause physical and mental disability, but doctors still don’t know exactly what causes it. Genetics, which you inherit from your parents, may play a role. This study looked at specific gene changes, called polymorphisms, (see more about these below) to see if they are more common in people with MS.
What the researchers studied:
The scientists looked at small changes in three genes that are important in how the body handles inflammation and immune responses:
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HLA-DRA
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HLA-DQA1
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IL-6
They studied blood samples from 98 people with MS and 100 healthy people, using a special lab method (RT-PCR) to look at gene differences.
Key findings:
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One specific variation in the IL-6 gene (called rs1800796) was found more often in people with MS than in healthy people. This suggests it may be linked to a higher risk of developing MS.
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Variations in the HLA-DRA and HLA-DQA1 genes did not show a clear link to MS in this study.
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Levels of vitamin D, vitamin B12, and folic acid were also checked, but they didn’t show any connection to the gene variations or to MS in this group.
Conclusion:
A change in the IL-6 gene may increase the risk of getting MS. More research is needed, but this finding could help in understanding who is more likely to develop MS and why.
🧬 What Are Polymorphisms?
Polymorphisms are natural variations or small differences in a person’s DNA. These variations are common and usually harmless. However, some polymorphisms can affect how your body works, including how it responds to infections, medications, or how likely you are to develop certain diseases.
One common type of polymorphism is called a single nucleotide polymorphism (SNP) (pronounced “snip”). This means a single “letter” in the DNA code is different. For example:
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Most people might have A (adenine) at a particular spot in their DNA.
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Some people might have G (guanine) at that same spot.
This tiny change can sometimes affect how a gene functions.
🧠 Polymorphisms and Multiple Sclerosis (MS)
MS is an autoimmune disease, meaning the body’s immune system mistakenly attacks healthy nerve cells. Some gene polymorphisms can make people more likely to develop MS by:
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Changing how the immune system responds.
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Increasing inflammation in the brain and spinal cord.
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Altering how certain proteins are made.
🔍 Which Polymorphisms Did This Study Look At?
The study focused on gene regions linked to immune function:
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IL-6 gene (interleukin-6):
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Makes a protein that increases inflammation.
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A change (polymorphism) called rs1800796 was more common in people with MS.
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This may mean people with this gene version have a higher risk of developing MS.
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HLA-DRA and HLA-DQA1 genes:
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Part of the HLA system (human leukocyte antigen), which helps the immune system tell the difference between the body’s own cells and invaders like viruses.
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Variations in these genes are known to be involved in many autoimmune diseases.
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In this study, the polymorphisms they looked at in these genes did not show a clear link to MS.
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🧩 Why Are Polymorphisms Important in Research?
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They help scientists understand disease risk.
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They might explain why some treatments work better for some people than others.
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They help guide personalized medicine — tailoring treatments based on a person’s genetic makeup.
Other posts you may be interested in:
High levels of alexithymia in patients with multiple sclerosis
Early symptoms and the Specific Risk of Multiple Sclerosis
A promising path for future treatments to stop progressive MS
Manganese benefits for autoimmune disease
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