A possible synergistic effect of MTHFR C677T polymorphism on homocysteine level variations increased risk for ischemic stroke

Background: Homocysteine (Hcy) plays an important role in vascular function and Hcy level contributes to pathogenesis of ischemic stroke (IS). MTHFR gene polymorphism may have effects on IS risks by influencing the Hcy metabolic pathway. In the present study, a case–control study was designed to evaluate the relationship among MTHFR C677Tpolymorphism, plasma Hcy level, and susceptibility of IS in Chinese population. Methods: A total of 300 patients with IS and 261 matched control subjects were recruited. Plasma Hcy concentration was determined using enzymatic cycling assay. MTHFR C677T polymorphisms were genotyped by PCR-RFLP. Results: Compared with controls, the plasma Hcy level was significantly higher in the IS patients (P < .05). After adjusting for conventional risk factors, the T allele frequency of MTHFR C677T in IS group (54%) was significantly higher than that in the controls (38.3%) (P < .05; OR = 1.890, 95% CI: 1.489–2.399). Additionally, the plasma Hcy level of the TT genotype is significantly higher than that of the CC and CT genotypes (P < .05). Conclusion: Our study provided evidence that hyperhomocysteinemia (HHcy) and MTHFR C677T polymorphism were associated with IS. More importantly, suggesting that a possible synergistic effect of MTHFR C677T polymorphism on Hcy level variations increased risk for IS in Chinese population.

• Publication year

  2017

• Venue

  Medicine

• Publication date

  2017-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/MD.0000000000009300PMID 29390494PMCID 5758196
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Haemostatic factors do not account for worse outcomes from ischaemic stroke in patients with higher C-reactive protein concentrations

  2017cited by this paper
• MTHFR (C677T) CT genotype and CT-apoE3/3 genotypic combination predisposes the risk of ischemic stroke.

  2016cited by this paper
• Association between 5,10-Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Risk of Ischemic Stroke: A Meta-analysis.

  2016cited by this paper
• Homocysteine, hyperhomocysteinemia and vascular contributions to cognitive impairment and dementia (VCID).

  2016cited by this paper
• Methylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue

  2015cited by this paper
• Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis.

  2014cited by this paper
• Association of CVD Candidate Gene Polymorphisms with Ischemic Stroke and Cerebral Hemorrhage in Chinese Individuals

  2014cited by this paper
• Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients.

  2013cited by this paper
• Association of the APOE, MTHFR and ACE Genes Polymorphisms and Stroke in Zambian Patients

  2013cited by this paper
• Recombinant tissue plasminogen activator for acute ischaemic stroke: an updated systematic review and meta-analysis

  2012cited by this paper
• Homocysteine, heat shock proteins, genistein and vitamins in ischemic stroke--pathogenic and therapeutic implications.

  2012cited by this paper
• EFFICACY OF FOLIC ACID SUPPLEMENTATION IN STROKE PREVENTION: NEW INSIGHT FROM A META-ANALYSIS

  2012cited by this paper
• Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case-control study in a Northern Indian population.

  2011cited by this paper
• Global variation in stroke burden and mortality: estimates from monitoring, surveillance, and modelling.

  2009cited by this paper
• Relationship of homocysteine with other risk factors and outcome of ischemic stroke.

  2009cited by this paper
• Association of Phosphodiesterase 4D Gene With Ischemic Stroke in a Pakistani Population

  2005cited by this paper
• Homocysteine, MTHFR 677C→T polymorphism, and risk of ischemic stroke: Results of a meta-analysis

  2002cited by this paper
• Classification of Subtype of Acute Ischemic Stroke: Definitions for Use in a Multicenter Clinical Trial

  1993cited by this paper

• Predictive value of serum homocysteine and potassium ion for short-term prognosis of patients with acute cerebral infarction following intravenous thrombolysis with recombinant tissue plasminogen activator

  2025cites this paper
• Εffects of MTR and AS3MT variants on antipsychotic response: prospective evidence from a naturalistic study in Greece

  2025cites this paper
• Research on the Correlation between MTHFR Gene Polymorphism and Other Related Factors with Hhcy

  2024cites this paper
• Machine learning approaches and genetic determinants that influence the development of type 2 diabetes mellitus: a genetic association study in Brazilian patients

  2024cites this paper
• Association of methylenetetrahydrofolate reductase (MTHFR) rs1801133 (677C>T) gene polymorphism with ischemic stroke risk in different populations: An updated meta-analysis

  2023cites this paper
• Prevalence of C677T single nucleotide polymorphism of methylene tetrahydrofolate reductase gene and its relationship with serum levels of homocysteine, vitamin B12, folate and cholesterol in Alzheimer’s patients

  2023cites this paper
• The combined effects of GSTM1/GSTT1 and MTHFR C677T polymorphisms on the systemic arterial hypertension susceptibility: A genetic association study in Brazilian diabetic patients

  2022cites this paper
• Recurrent Ophthalmoplegia Associated with Hyperhomocysteinemia

  2022cites this paper
• Elevated plasma homocysteine level is associated with poor ST-segment resolution in patients with ST-segment elevation myocardial infarction undergoing primary percutaneous coronary intervention at high altitude

  2022cites this paper
• Relationship of Methylenetetrahydrofolate Reductase (MTHFR) C677T Variation With Susceptibility of Patients With Ischemic Stroke: A Meta-Analysis

  2022cites this paper
• The association of VDR (Fok I and Bsm I) and MTHFR (C677T) polymorphisms with ischemic stroke

  2022cites this paper
• MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults

  2021cites this paper
• Do MTHFR C677T Genetic Polymorphism Influence in the Pathogenesis of Amyotrophic Lateral Sclerosis?

  2021cites this paper
• The role of B vitamins in stroke prevention

  2021influential citation
• Polymorphisms variants of the MTHFR C677T and PAI-1 5G/4G genes and their combinations in the group of children with arterial ischemic stroke

  2020cites this paper
• Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease

  2020cites this paper
• Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population

  2020cites this paper
• Metabolomics reveals the renoprotective effect of n-butanol extract and amygdalin extract from Amygdalus mongolica in rats with renal fibrosis

  2020cites this paper
• Correlation between MTHFR polymorphisms and glaucoma: A meta‐analysis

  2019cites this paper
• Methylenetetrahydrofolate reductase deficiency alters cellular response after ischemic stroke in male mice

  2019cites this paper
• One-carbon metabolism supplementation improves outcome after stroke in aged male MTHFR-deficient mice.

  2019cites this paper
• The impact of genetic variation on metabolism of heavy metals: Genetic predisposition?

  2019cites this paper
• Common Methylenetetrahydrofolate Reductase Polymorphisms (A1298C & C677T) in Ectopic Trophoblasts and Methotrexate Treatment Failure in Tubal Pregnancies.

  2018cites this paper
• Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China

  2018cites this paper
• Association between 5,10-Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Risk of Ischemic Stroke: A Meta-analysis.

  2016cites this paper
• Corrected: Exploring the Nexus: A Systematic Review on the Interplay of the Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T Genotype, Hyperhomocysteinemia, and Spontaneous Cervical/Vertebral Artery Dissection in Young Adults

  year unknowninfluential citation