Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine and other risk factors for vascular disease

Motti, Corradino; Gnasso, Agostino; Bernardini, Sergio; Massoud, Renato; Pastore, Anna; Rampa, P.; Federici, Giorgio; Cortese, Claudio

doi:10.1016/s0021-9150(98)00079-3

Cited by 50 publications

(42 citation statements)

References 21 publications

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“…This is in the lower range of published figures, 5.4 -16.1% (Brattström et al, 1998;Motti et al, 1998). Our low value is comparable to data from other Finnish populations, 6.1% (n ¼ 115; Wirta et al, 1998) and 6.5% (n ¼ 168; Voutilainen et al, 2000.).…”

Section: Discussionsupporting

confidence: 78%

Folate intake, plasma folate and homocysteine status in a random Finnish population

Alfthan

Laurinen²,

Valsta³

et al. 2003

Eur J Clin Nutr

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Objective: To assess the folate status of Finnish adults using plasma folate and homocysteine as biomarkers and to evaluate dietary and supplementary folate intakes. Materials and methods: Plasma folate, vitamin B 12 and total homocysteine (tHcy) were determined in a random sample of 643 subjects aged 25 -74 y living in the Helsinki area. The methylenetetrahydrofolate reductase (MTHFR)-genotypes were analyzed from a subsample (n ¼ 394). Dietary intake data by 24 h recall and use of vitamin supplements were collected. Results: Plasma folate was normal ( ! 5 nmol=l) in 99% of subjects and optimal ( ! 8 nmol=l) in terms of a minimum tHcy in 90%. Mean plasma folate of non-supplement users was 13.7 and 12.9 nmol=l and tHcy 11.3 and 9.2 mmol=l for men and women, respectively. Elevated tHcy ( > 14 mmol=l) was found in 11% of subjects. Homozygote frequency for MTHFR genotype TT was 5.0% and their plasma tHcy was 14.8 mmol=l compared to the mean of the other subjects, 10.5 mmol=l, P < 0.05. The mean dietary folate intake was 241 mg=day (29 mg=MJ of energy) for men and 205 mg=day (33 mg=MJ) for women, respectively. The main dietary sources of folate were vegetables 12%, wholemeal ryebread 11%, fruits 10%, and potato 10%. Regular supplement users (n ¼ 97) received on average 207 mg folic acid per day from supplements. Conclusions: The folate status of Finnish adults seems to be adequate according to energy adjusted folate intake, plasma folate and homocysteine. The MTHFR homozygote frequency was low compared to other countries. Regular use of supplementary folic acid less than 300 mg increased plasma folate, but supplemental folic acid over 300 mg was required to lower tHcy values significantly.

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Section: Discussionsupporting

confidence: 78%

Folate intake, plasma folate and homocysteine status in a random Finnish population

Alfthan

Laurinen²,

Valsta³

et al. 2003

Eur J Clin Nutr

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“…Our results are quite consistent with the observations of Motti et al, 1998and Kim et al, 2002, Golbahar et al, 2007and Simon et al, 2009. Other studies suggest that elevated serum uric acid can predict CVD and cerebrovascular accidents (Leo et al, 2004) (Newman et al, 2006) (Giacomo et al, 2009).…”

Section: Discussionsupporting

confidence: 93%

“…Second, in subjects with the T/T genotype, renovascular atherosclerosis or the complications of systemic vascular disease may reduce the renal clearance of uric acid, resulting in elevated serum uric acid (Motti et al, 1998). Therefore, the MTHFR mutation may be a risk factor that is involved in multiple metabolic pathways related to vascular diseases (Hong et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

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Methylene Tetrahydrofolate Reductase Gene Polymorphism and the Risk of Ischemic Stroke in Type 2 Diabetic Egyptian Patients

Mackawy¹,

Badawy²

2011

GJHS

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Background: A common C677T mutation of methylenetetrahydrofolate reductase (MTHFR) gene is reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases and ischemic stroke (IS). Aim: To clarify the possible role of the MTHFR 677C>T polymorphism in predisposition to IS and to assess the relationship of allelic variants of MTHFR gene with homocysteine (Hcy) plasma levels and other risk factors of atherosclerosis and IS in type 2 diabetic Egyptians. Subjects: Group I: 40 healthy non diabetic volunteers. Group II: 40 patients with type 2 diabetes mellitus (DM) without IS. Group III: 40 patients with type 2 DM and IS. Methods: Fasting blood samples were collected for research investigations. HPLC technique was used to estimate plasma Hcy levels. Polymerase chain reaction (PCR) assay with restriction fragment length polymorphism (RFLP) were used to examine the MTHFR polymorphism. Results: The frequencies of T allele and TT genotype were significantly higher in group III patients when compared to group I and group II (P<0.001) .Total plasma Hcy and uric acid levels were significantly higher in group III patients who carry the TT genotype. Conclusion: The MTHFR 677C>T polymorphism is associated with elevated Hcy and uric acid plasma levels which increases the atherogenic risk and the prevalence of IS in type 2 diabetic Egyptian patients.

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“…As supporting data of our results, a female-specific significant association with the TT genotype was also reported in the predisposition to ischemic stroke 29 and asymptomatic carotid atherosclerosis. 30 Motti et al 31 reported that sex differentiation is independently associated with homocysteine. Plasma homocysteine levels are significantly higher in healthy men than in women, which is consistent with our results (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Association of Methylenetetrahydrofolate Reductase Gene Polymorphism With Carotid Atherosclerosis Depending on Smoking Status in a Japanese General Population

Inamoto

Katsuya

Kokubo

et al. 2003

Stroke

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Background and Purpose-The association of the methylenetetrahydrofolate reductase gene (MTHFR) with carotid atherosclerosis remains inconsistent. This may be due to small sample size and inappropriate analysis. We investigated the association of C677T/MTHFR with blood pressure and carotid atherosclerosis in a Japanese general population. Methods-Subjects (30 to 89 years of age; 1693 women, 1554 men) who gave informed consent were randomly selected from a general population in Suita, Japan. MTHFR genotypes were determined by TaqMan polymerase chain reaction. Carotid atherosclerosis was evaluated by high-resolution ultrasonography with atherosclerotic indexes of intimal-medial thickness (IMT), maximum IMT in the common carotid artery (CCA), plaque score, and stenosis (Ͼ50%). Results-Age-adjusted diastolic blood pressure was significantly higher in women with the TT genotype than in those with the CC genotype. In a recessive model (CCϩCT versus TT), all adjusted odds ratios for hypertension and Ͼ50% stenosis in women were 1.42 and 3.42 (95% confidence intervals, 1.01 to 1.99 and 1.23 to 9.53), respectively. In women, maximum IMT in CCA for smokers with the TT genotype was significantly higher than for smokers with the CC genotype and nonsmokers with the TT genotype (PϽ0.05). Conclusions-Our study suggests that the MTHFR TT genotype is a risk factor for hypertension and carotid stenosis in women. Significant interactions between C677T/MTHFR and smoking on maximum IMT in CCA were observed in women but not in men. Smoking cessation for subjects with the TT genotype is important in the prevention of cerebrovascular disease.

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Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine and other risk factors for vascular disease

Cited by 50 publications

References 21 publications

Folate intake, plasma folate and homocysteine status in a random Finnish population

Folate intake, plasma folate and homocysteine status in a random Finnish population

Methylene Tetrahydrofolate Reductase Gene Polymorphism and the Risk of Ischemic Stroke in Type 2 Diabetic Egyptian Patients

Association of Methylenetetrahydrofolate Reductase Gene Polymorphism With Carotid Atherosclerosis Depending on Smoking Status in a Japanese General Population

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