Association between polymorphisms of a folate – homocysteine – methionine – SAM metabolising enzyme gene and multiple sclerosis in a Polish population

Monika Chorąży , Natalia Wawrusiewicz-Kurylonek , Joanna Gościk , Renata Posmyk , Agata Czarnowska , Marta Więsik , Katarzyna Kapica-Topczewska , Adam Jacek Krętowski , Jan Kochanowicz , Alina Kułakowska


Background and Objectives. Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with a still unknown aetiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation. Neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process. 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism. It leads to Hcy remethylation to methionine. In the present study, we aimed to investigate a possible association between two variants of MTHFR gene in patients with MS in Poland and healthy individuals. Methods. In this study, we genotyped 174 relapsing-remitting MS patients and 186 healthy controls using the TaqMan technique. Results and Conclusions. It was found that, regardless of the presence of a specific allele, the gender of MS patients affects age at the time of the clinical onset of the disease: in rs1801133 for the C allele and T, the average age was 35 years for women and 29 for men (p = 0.0004; p = 0.034 respectively). Similarly for the second polymorphism rs1801131 for the A allele and C, the average age was 35 years for women and 29 for men (p = 0.001; p = 0.01 respectively). No significant allelic / genotypic frequency differences have been observed between the studied groups (c.677C > T, CT/TT p = 0.719, p = 0.262; c.1298A > C, AC/CC of p = 0.686; p = 0.66). We found no association between polymorphisms of a folate-homocysteine-methionine-SAM metabolising gene enzyme and multiple sclerosis in a Polish population.
Author Monika Chorąży
Monika Chorąży,,
, Natalia Wawrusiewicz-Kurylonek
Natalia Wawrusiewicz-Kurylonek,,
, Joanna Gościk (FCS / SD)
Joanna Gościk,,
- Software Department
, Renata Posmyk
Renata Posmyk,,
, Agata Czarnowska
Agata Czarnowska,,
, Marta Więsik
Marta Więsik,,
, Katarzyna Kapica-Topczewska
Katarzyna Kapica-Topczewska,,
, Adam Jacek Krętowski
Adam Jacek Krętowski,,
, Jan Kochanowicz
Jan Kochanowicz,,
, Alina Kułakowska
Alina Kułakowska,,
Journal seriesNeurologia i Neurochirurgia Polska, ISSN 0028-3843, (N/A 40 pkt)
Issue year2019
Publication size in sheets0.5
Keywords in Englishmultiple sclerosis, polymorphism, MTHFR gene, folate
ASJC Classification2728 Clinical Neurology; 2746 Surgery
Internal identifier000045505
Languageen angielski
Score (nominal)40
Score sourcejournalList
ScoreMinisterial score = 40.0, 12-02-2020, ArticleFromJournal
Publication indicators Scopus SNIP (Source Normalised Impact per Paper): 2017 = 0.496; WoS Impact Factor: 2018 = 1.006 (2) - 2018=0.98 (5)
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