Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis

Laura Stachowska, Dorota Koziarska, Beata Karakiewicz, Artur Kotwas, Anna Knyszyńska, Marcin Folwarski, Karolina Dec, Ewa Stachowska, Viktoria Hawryłkowicz, Monika Kulaszyńska, Joanna Sołek-Pastuszka and Karolina Skonieczna-Żydecka
Additional contact information
Laura Stachowska: Department of Human Nutrition and Metabolomics, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland
Dorota Koziarska: Department of Neurology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 72-252 Szczecin, Poland
Beata Karakiewicz: Subdepartment of Social Medicine and Public Health Department of Social Medicine, Pomeranian Medical University in Szczecin, Żołnierska 48, 71-210 Szczecin, Poland
Artur Kotwas: Subdepartment of Social Medicine and Public Health Department of Social Medicine, Pomeranian Medical University in Szczecin, Żołnierska 48, 71-210 Szczecin, Poland
Anna Knyszyńska: Department of Functional Diagnostics and Physical Medicine, Pomeranian Medical University in Szczecin, 71-210 Szczecin, Poland
Marcin Folwarski: Department of Clinical Nutrition and Dietetics, Medical University of Gdansk, 80-211 Gdańsk, Poland
Karolina Dec: Department of Human Nutrition and Metabolomics, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland
Ewa Stachowska: Department of Human Nutrition and Metabolomics, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland
Viktoria Hawryłkowicz: Department of Human Nutrition and Metabolomics, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland
Monika Kulaszyńska: Department of Biochemical Science, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland
Joanna Sołek-Pastuszka: Department of Anaesthesiology and Intensive Therapy, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 72-252 Szczecin, Poland
Karolina Skonieczna-Żydecka: Department of Biochemical Science, Pomeranian Medical University in Szczecin, Broniewskiego 24, 71-460 Szczecin, Poland

IJERPH, 2022, vol. 19, issue 11, 1-20

Abstract: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system in which there is a multifocal damage to the nerve tissue. Additionally, the literature emphasizes the excessive accumulation of iron in the central nervous system of patients, which is negatively correlated with their psychophysical fitness. Iron metabolism genes polymorphisms may modulate iron deposition in the body and thus affect the clinical course of MS. We aimed to assess the frequency of HAMP , TFR 2, and TF polymorphisms in MS patients and their impact on the clinical course of the disease. The studied polymorphisms were identified by the Real-Time PCR using TaqMan technology. Neurological assessment by means of EDSS scale was conducted. This cross-sectional study included 176 patients, with the mean age of onset of symptoms at 30.6 years. The frequency of alleles of the studied polymorphisms was as follows: (a) HAMP rs10421768: A 75.9% ( n = 267), G 24.1% ( n = 65), (b) TF rs1049296: C 89.2% ( n = 314), T 10.8% ( n = 38), (c) TF rs3811647: A 39.8% ( n = 140), G 60.2% ( n = 212), (d) TFR 2 rs7385804: A 59.1% ( n = 59.1%), C 40.9% ( n = 144). In the codominant inheritance model of TF rs1049269, it was shown that people with the CT genotype scored statistically significantly lower points in the EDSS scale at the time of diagnosis than those with the CC genotype (CC Me = 1.5, CT Me = 1.0 p = 0.0236). In the recessive model of TF inheritance rs3811647, it was noticed that the primary relapses were significantly more frequent in patients with at least one G allele compared with those with the AA genotype (AG + GG = 81.2%, AA = 18.8%, p = 0.0354). In the overdominant model rs7385804 TFR 2, it was shown that among patients with the AA genotype, multiple sclerosis occurs significantly more often in relatives in a straight line compared with people with the AC and CC genotypes (AA = 100.0%, AC + CC = 0.0%, p = 0.0437). We concluded that the studied polymorphisms might affect the clinical course of MS.

Keywords: multiple sclerosis; neurodegeneration; iron; polymorphism (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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