1.Plasma homocysteine concentration and MTHFR C677T polymorphism are related to ischemic stroke
Yuchao ZHANG ; Mingzhang XIE ; Mengmeng ZHAO ; Xiaochun ZHOU ; Chenyan YANG ; Yanxuan LIU
Basic & Clinical Medicine 2025;45(3):331-335
Objective To investigate the correlation of plasma homocysteine(Hcy)level and the polymorphisms of its key metabolic enzymes methylenetetrahy-drofolate reductase(MTHFR)gene with ischemic stroke(IS).Methods A total of 310 patients with IS were enrolled as the case group and 330 healthy subjects during the same period were selected as the control group.Plasma Hcy concentration was detected by enzyme cycling method,and the real-time fluorescent quantitative PCR(RT-qPCR)was used to detecte the genotypes of MTHFR C677T.Results The frequencies of TT genotype(36.13%),CT genotype(10.00%)and T allele(28.06%)of MTHFR gene C677T locus in stroke patients were significantly higher than that in control group(P<0.05).The frequency of the TT genotype was significantly higher in IS group compared to control group,indicating a recessive mode of inheritance(P<0.05);In the dominant mode of inheritance,the frequency of CT+TT genotype in IS group was also significantly higher than that in control group(P<0.05);The plasma Hay concentration of MTHFR C677T genotype TT,CT and CC patients was statistically different(P<0.05),which were(20.91±6.78)μmol/L(17.20±5.39)μmol/L,(14.35±4.32)μmol/L,respectively;The area under the ROC curve(AUC)of plas-ma total Hcy level was 0.610(95%CI:0.566~0.653,P<0.001).It indicated that it might play an impor-tant role in predicting the risk of suffering from IS.Multivariate Logistic regression analysis showed that plasma Hcy level and MTHFR C677T gene polymorphism were important risk factors of IS.Conclusions Elevated plasma Hcy level is associated with IS,and the synergistic effect of elevated Hcy level and MTHFR C677T gene mutation may increase the risk of IS.
2.Association of MTHFR C677T gene polymorphism with serum Hcy level and subtypes of ischemic stroke
Yuchao ZHANG ; Mingzhang XIE ; Xiaochun ZHOU ; Mengmeng ZHAO ; Chenyan YANG ; Yanxuan LIU
Basic & Clinical Medicine 2025;45(12):1614-1618
Objective To investigate the relationship between methylenetetra-hydrofolatereductase(MTHFR)gene polymorphism and serum homocysteine(Hcy)level and subtypes of ischemic stroke(IS).Methods The study was conducted according to the matched principle of case-control design,310 patients with IS and 330 healthy people during the same period were selected as the case group and the control group.Recycling enzyme method and the real-time fluorescent quantitative PCR(RT-qPCR)method were used to detect the level of serum Hcy and the genotypes of MTHFR C677T,respectively.Results There was a significantly difference in MTHFR C677T genotype and allele frequency between the case and control groups(P<0.05).The correlation analysis with different subtypes indicated that the frequencies of CT genotype(38.02%),TT genotype(10.74%),and T allele(29.75%)were significantly different in the LAA group(OR=1.662,95%CI:1.058-2.608,P<0.05;OR=2.373,95%CI:1.110-5.073,P<0.05;OR=1.663,95%CI:1.190-2.323,P<0.05);The frequencies of TT genotype(10.53%)and T allele(27.30%)in SAO group were also significantly different(OR=2.130,95%CI:1.046-4.336,P<0.05;OR=1.474,95%CI:1.075-2.021,P<0.05).Further analysis of serum Hcy level showed that LAA group(19.55±5.61)μmol/L and SAO group(16.37±5.20)μmol/L were significantly higher than the control group(14.46±4.61)μmol/L(P<0.001);Among the patients of both subtypes the serum Hcy levels in those with CT genotypes and TT genotypes were significantly higher than those in patients of CC genotypes(P<0.001).Conclusions The gene polymorphism of MTHFR C677T has a significant effect on Hcy level in pa-tients with LAA and SAO stroke.

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