A new study published in the International Journal of Environmental Research and Public Health has found that specific polymorphisms in genes related to iron metabolism may be associated with the likelihood of developing multiple sclerosis (MS), disease relapses, and Expanded Disability Status Scale (EDSS) scores.

“According to the literature data, excessive iron accumulation is observed in the central nervous system of patients suffering from MS, which is negatively correlated with their psychophysical fitness,” the authors wrote.

“The causes of this phenomenon are not fully understood. The presence of polymorphisms in the genes of iron metabolism may modulate iron deposition in the body and thus affect the clinical course of the disease.”

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The research team performed a cross-sectional study of 176 patients with MS in Poland in 2019. Information on the age of onset, EDSS rating at diagnosis, relapses, and co-occurrence with other autoimmune disorders, among other variables, were recorded. Genotyping was performed, and the iron metabolism polymorphisms HAMP, TF, and TFR2 were analyzed with respect to their impact on the course of disease in the patients, who were determined as having genotypes AA, AG, and GG.

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There was a tendency for the TF polymorphism to be associated with a higher EDSS score at the time of diagnosis in patients with the AA genotype and more frequent relapses in those with the AG and GG genotypes. The HAMP polymorphism showed a trend towards more frequent primary relapses in patients with the AA and AG genotypes compared to those with the GG genotype.

The authors caution that none of the results achieved statistical significance and that there are contradictory studies in the literature. The molecular mechanisms underlying iron metabolism in MS remain unclear, and further studies are required to elucidate the specific relationships between genetic variants and the disease parameters of patients with MS.


Stachowska L, Koziarska D, Karakiewicz B, et al. Hepcidin (rs10421768), transferrin (rs3811647, rs1049296) and transferrin receptor 2 (rs7385804) gene polymorphism might be associated with the origin of multiple sclerosis. Int J Environ Res Public Health. 2022;19(11):6875. doi.10.3390/ijerph19116875