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- Title
POLYMORPHISMS OF 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN MULTIPLE SCLEROSIS.
- Authors
Nada, Starčević Čizmarević; Jadranka, Vraneković; Dolores, Janko-Labinac; Jasna, Nekić; Smiljana, Ristić
- Abstract
Multiple sclerosis is an inflammatory, demyelinating disease of the central nervous system in which both environmental and multiple genetic factors play a role in the etiology with moderate effects. Homocysteine-induced neurotoxicity may be a factor influencing inflammation, and 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in homocysteine metabolism. The association between MTHFR polymorphisms and multiple sclerosis has been studied in different ethnic groups.Therefore, we tested the hypothesis that polymorphisms in MTHFR (C677T and A1298C) influence the predisposition to multiple sclerosis and its clinical expression in the Croatian population.Two hundred patients and 200 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism method.No significant differences (p > 0.05) in genotype distribution or allele frequency of the MTHFR C677T polymorphism were found between patients and controls. Regarding the MTHFR A1298C polymorphism, there were no significant differences (p>0.05) in allele frequencies between patients and controls, although the MTHFR 1298C/C genotype was underrepresented in patients (p=0.01; OR =0.16; 95% CI: 0.05-0.57). The study showed no statistically significant differences in predisposition between men and women, nor between familial and non-familial cases of multiple sclerosis with respect to either MTHFR polymorphism. We found no correlation between the MTHFR A1298C polymorphism and disease behavior (p>0.05). However, we observed a statistically significant association (p=0.04) between carrier status of the MTHFR 677T allele and disease progression. Our results suggest that in the study populations, the MTHFR 1298C/C genotype may be a protective factor for multiple sclerosis susceptibility, while the MTHFR 677T allele may be a good predictor of disease progression.
- Subjects
MULTIPLE sclerosis; CENTRAL nervous system viral diseases; CENTRAL nervous system diseases; DEMYELINATION; DENITRIFYING bacteria
- Publication
Genetics & Applications, 2023, p57
- ISSN
2566-2937
- Publication type
Article