This mutation is also associated with higher-than-normal levels of TGF-β1, an anti-inflammatory molecule, a finding that requires more study, its researchers noted.
The study, “The rs3761548 FOXP3 variant is associated with multiple sclerosis and transforming growth factor β1 levels in female patients,” was published in the journal Inflammation Research.
MS is caused by a combination of genetic and environmental factors. Mutations in about 200 genes, most of them related to the immune response, have been associated with an increased risk of developing MS.
Some of these mutations are located in the FOXP3 gene, which is key for the development and proper function of immune Tregs. Tregs are a subset of immune T-cells that regulate other T-cells, stopping them from attacking the body’s own tissues while maintaining an adequate immune response against harmful intruders.
A variation of a single nucleotide (the building blocks of DNA) in a specific region of the FOXP3 gene — called the rs3761548 polymorphism — has been linked to lower levels of FOXP3, and a greater risk of MS among people in Iran. This mutation was reported to be in one or both copies of the FOXP3 gene.
No such association, however, was found for the Polish population.
“It is well known that ethnicity influences the presence of variants in various genes, which may cause controversial results in different populations, that is why is important to survey this association in different ethnicities,” the researchers wrote.
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