BACKGROUND AND AIM: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease of the central nervous system. Genetic risk factors are known to contribute to the etiology of MS. Methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been associated with susceptibility to various autoimmune diseases. The aim of this study was to investigate a possible association between the MTHFR gene C677T polymorphism and MS in Turkish patients. METHODS: The study included 130 MS patients and 150 group-matched controls. Genomic DNA was isolated and genotyped using polymerase chain reaction-based restriction fragment length polymorphism assay for the MTHFR gene exon C677T polymorphism. RESULTS: The genotype and allele frequencies of C677T polymorphism showed statistically significant differences between MS patients and controls (P = 0.002 and P = 0.002; odds ratio, 1.79; 95% confidence interval, 1.23-2.63, respectively). A significant association was observed when the patients were compared with the controls according to CC genotype versus CT + TT genotypes (P = 0.0005; odds ratio, 2.35; 95% confidence interval, 1.45-3.82). There were no statistically significant association between MTHFR gene C677T polymorphism and baseline clinical and demographical characteristics of MS patients. CONCLUSIONS: These results showed that T allele of C677T polymorphism was associated with MS susceptibility in Turkish population.
BACKGROUND AND AIM: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease of the central nervous system. Genetic risk factors are known to contribute to the etiology of MS. Methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been associated with susceptibility to various autoimmune diseases. The aim of this study was to investigate a possible association between the MTHFR gene C677T polymorphism and MS in Turkish patients. METHODS: The study included 130 MSpatients and 150 group-matched controls. Genomic DNA was isolated and genotyped using polymerase chain reaction-based restriction fragment length polymorphism assay for the MTHFR gene exon C677T polymorphism. RESULTS: The genotype and allele frequencies of C677T polymorphism showed statistically significant differences between MSpatients and controls (P = 0.002 and P = 0.002; odds ratio, 1.79; 95% confidence interval, 1.23-2.63, respectively). A significant association was observed when the patients were compared with the controls according to CC genotype versus CT + TT genotypes (P = 0.0005; odds ratio, 2.35; 95% confidence interval, 1.45-3.82). There were no statistically significant association between MTHFR gene C677T polymorphism and baseline clinical and demographical characteristics of MSpatients. CONCLUSIONS: These results showed that T allele of C677T polymorphism was associated with MS susceptibility in Turkish population.
Authors: Julia Horjus; Tineke van Mourik-Banda; Marco A P Heerings; Marina Hakobjan; Ward De Witte; Dorothea J Heersema; Anne J Jansen; Eva M M Strijbis; Brigit A de Jong; Astrid E J Slettenaar; Esther M P E Zeinstra; Erwin L J Hoogervorst; Barbara Franke; Wiebe Kruijer; Peter J Jongen; Leo J Visser; Geert Poelmans Journal: Int J Mol Sci Date: 2022-09-28 Impact factor: 6.208