MTHFR (C677T) CT genotype and CT-apoE3/3 genotypic combination predisposes the risk of ischemic stroke

Vijayan, Murali; Chinniah, Rathika; Ravi, Padma Malini; Sivanadham, Ramgopal; Joseph, Arun Kumar Mosses; Vellaiappan, Neethi Arasu; Krishnan, Jeyaram Illiayaraja; Balakrishnan, K.

doi:10.1016/j.gene.2016.06.062

Cited by 25 publications

(17 citation statements)

References 48 publications

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“…5,10-Methylenetetrahydrofolate reductase (MTHFR), encoded by the MTHFR gene in humans, is a key controlling enzyme related to Hcy metabolism. [ 5 ] The most common polymorphism of MTHFR is the cytosine (C) to thymine (T) substitution at position 677 which results in the conversion of alanine to valine at amino acid 222. [ 6 ] The C677T polymorphism is associated with decreased enzyme activity and eventually leads to elevation of Hcy concentrations.…”

Section: Introductionmentioning

confidence: 99%

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

Ai-Fan

Shi²,

et al. 2017

Medicine

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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.

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Section: Introductionmentioning

confidence: 99%

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

Ai-Fan

Shi²,

et al. 2017

Medicine

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“…MTHFR is the rate-limiting enzyme in the methylation cycle, and it is encoded by the MTHFR gene. 12 This enzyme is responsible for converting 5,10-methylene tetrahydrofolate into 5methyltetrahydrofolate by adding methyl groups to make folate bioavailable to the body. 12 Individuals who have impaired MTHFR activity have a reduced ability to convert 5,10-MTHF into 5-methyltetrahydrofolate.…”

Section: Introductionmentioning

confidence: 99%

“…12 This enzyme is responsible for converting 5,10-methylene tetrahydrofolate into 5methyltetrahydrofolate by adding methyl groups to make folate bioavailable to the body. 12 Individuals who have impaired MTHFR activity have a reduced ability to convert 5,10-MTHF into 5-methyltetrahydrofolate. 13 Due to this reduced activity they may have difficulty processing folic acid from supplements and fortified foods.…”

Section: Introductionmentioning

confidence: 99%

“…Currently, 34 mutations have been identified with the MTHFR gene, which are associated with enzymatic deficiency. 12 A 2003 study, which assessed the MTHFR status of 7000 newborns over 16 areas worldwide, found that between 60% and 70% of individuals will have at least one of these polymorphisms. 15 The folate vitamers found in whole foods typically occur as reduced methyl and formyl polyglutamate forms.…”

Section: Introductionmentioning

confidence: 99%

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The Bioavailability of Various Oral Forms of Folate Supplementation in Healthy Populations and Animal Models: A Systematic Review

Bayes

Agrawal

Schloss

2019

The Journal of Alternative and Complementary Medicine

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This review has found a number of methodological limitations and conflicting results. Only three out of the 23 studies assessed found a statistically significant difference between different supplemental forms of folate. Quality absorption studies assessing the bioavailability of oral folate supplements are crucial if clinicians are to make effective evidence-based recommendations. More research is required for greater clarification regarding the bioavailability of these supplements.

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“…N-5, N-10-methylenetetrahydrofolate reductase (MTHFR) is the rate limiting enzyme in the metabolism of Hcy. Studies have found that MTHFR has a certain correlation with cerebrovascular disease [1,2] and has a predictive value in ischemic stroke [25]. However, the relationship between MTHFR gene C677T polymorphism and WML is still unclear.…”

Section: Introductionmentioning

confidence: 99%

Correlations between plasma homocysteine and MTHFR gene polymorphism and white matter lesions

Li¹,

Fu²,

Dong³

2018

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This study aims to investigate the correlation between the plasma homocysteine (Hcy) level and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, and white matter lesions (WML). The plasma Hcy level and MTHFR C677T gene polymorphism in 104 patients with white matter lesions and 74 controls were measured. The severity of cerebral white matter was scored on the magnetic resonance imaging (MRI) images by the modified Scheltens scale (score of 0-30). The plasma Hcy level in the WML group was remarkably higher than that in the control group (p < 0.05), and the proportion of the patients with a high Hcy level in the WML group was notably higher than that in the control group (p < 0.05). Moreover, the patients with TT genotype in MTHFR gene had a significantly higher plasma Hcy level than those with CT or CC genotype. In addition, the plasma Hcy level in the patients with CT genotype was also significantly different from that in the patients with CC genotype (p < 0.05). The severity of cerebral white matter lesions among the patients with different genotypes in MTHFR gene was not significantly different (p > 0.05). The plasma Hcy level is positively correlated with WML and significantly correlated with C677T gene polymorphism in MTHFR gene. The severity of white matter lesions is not correlated with MTHFR C677T gene polymorphism.

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MTHFR (C677T) CT genotype and CT-apoE3/3 genotypic combination predisposes the risk of ischemic stroke

Cited by 25 publications

References 48 publications

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

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

The Bioavailability of Various Oral Forms of Folate Supplementation in Healthy Populations and Animal Models: A Systematic Review

Correlations between plasma homocysteine and MTHFR gene polymorphism and white matter lesions

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