Correlation between MTHFR gene polymorphism and serum Hcy level with stroke

Objective To investigate the correlation between N5, N10-methylene tetrahydrofolate reductase (MTHFR) gene 677 locus polymorphism and plasma homocysteine (Hcy) level with stroke. Methods The patients hospitalized in our hospital between December 2015 and August 2016, and the healthy subjects were included in the study (n=235) . Seventy-seven cases of stroke were included as the study group, and 158 cases of non-stroke were included as the control group. The polymorphism of MTHFR C677T locus was determined by PCR-RFLP, and the Hcy level was determined by cyclic enzyme method. Results MTHFR C677T contained three genotypes in the 235 subjects: the normal wild type (CC type) , heterozygous mutant type (CT type) , and homozygous mutant type (TT type) . The frequency of the three genotypes was 5.19%, 53.25% and 41.56% in the study group, and 26.58%, 54.43% and 18.99% in the control group, respectively, and the difference was statistically significant (P<0.05) . The proportion of MTHFR 677T allele carriers in the study group was significantly higher than that in the control group (P<0.001) , and the stroke was more likely to occur in the population with MTHFR 677TT genotype was more prone to (OR=11.2, 95%CI: 3.580~35.031) . The Hcy level in the study group was significantly higher than that in the control group, and the population with CT genotype and TT genotype had a higher risk of the disease (all P<0.05) . Conclusion The plasma Hcy level of MTHFR T allele carriers in the Han population of Guangzhou is significantly higher than that of C allele carriers, and the T allele may be a risk factor for stroke. MTHFR genotype and Hcy level can be used for the early risk assessment of stroke. Key words: Stroke; Polymorphism, single nucleotide; Cysteine; MTHFR gene