Methylenetetrahydrofolate reductase (MTHFR) c677t gene variant modulates the homocysteine folate correlation in a mild folate-deficient population

Pereira, Alexandre da Costa; Schettert, Isolmar Tadeu; Filho, Antônio Alberto F. Morandini; Guerra-Shinohara, Elvira María; Krieger, José Eduardo

doi:10.1016/j.cccn.2003.09.016

Cited by 75 publications

(72 citation statements)

References 34 publications

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“…The concentrations of p-tHcy and serum folate are within the normal range in these subjects. Our observations that subjects with MTHFR-677 CC, CT and TT have significantly different concentrations of p-tHcy are in accordance with an earlier study (Table 3) (Pereira et al 2004;Devlin et al 2006;Zappacosta et al 2014;Yang et al 2008;Anderson et al 2013;Nelen et al 1998).…”

Section: Discussionsupporting

confidence: 93%

“…The baseline concentration of serum folate was not altered significantly by all polymorphisms in folate genes as reported previously (Table 3) (Pereira et al 2004;Devlin Zappacosta et al 2014;Yang et al 2008;Anderson et al 2013;Nelen et al 1998;DeVos et al 2008). After the folic acid supplementation, the concentration of serum folate was changed significantly by MTHFR-677[T polymorphisms (Table 3).…”

Section: Discussionsupporting

confidence: 77%

“…Previously, it had been reported that individual polymorphisms in MTHFR-1298A[C and MTHFR-1317T[C did not have any effect on the concentration of p-tHcy; however, subjects with MTHFR-677 TT had significantly higher concentrations of p-tHcy (Pereira et al 2004;Devlin et al 2006;Zappacosta et al 2014;Yang et al 2008;Anderson et al 2013). It was also reported that folic acid intake (150 lg/day) in subjects with MTHFR677 TT had a counter effect and reduced the concentration of p-tHcy (Yang et al 2008).…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, data on the combined effect of gene polymorphisms, in folate metabolizing genes, on the concentration of serum folate and p-tHcy after folic acid supplementation are scarce (Pereira et al 2004;Devlin et al 2006;Zappacosta et al 2014;Yang et al 2008;Anderson et al 2013;Nelen et al 1998;DeVos et al 2008). Therefore, in a crossover study, we assessed the combined effect of MTHFR-677C [T, MTHFR-1298A[C, RFC1-80G[A, MTHFD1-1958G[A, MTR-2756A[G, DHFR-19 del and TS gene polymorphisms on the concentration of serum folate and p-tHcy after short-term folic acid supplementation in healthy subjects.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study

et al. 2015

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Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study Abstract Data on the effect of combined genetic polymorphisms, involved in folate metabolism, on the concentration of serum folate after folic acid supplementation are scarce. Therefore, we investigated the impact of seven gene polymorphisms on the concentration of serum folate and p-tHcy in healthy subjects after short-term folic acid supplementation. In a randomized, double blind, crossover study, apparently healthy subjects were given either 0.8 mg folic acid per day (n = 46) or placebo (n = 45) for 14 days. The washout period was 14 days. Fasting blood samples were collected on day 1, 15, 30 and 45. Data on subjects on folic acid supplementation (n = 91) and on placebo (n = 45) were used for the statistical analysis. The concentration of serum folate increased higher in subjects with higher age (53.5 ± 7.0 years) than in subjects with lower age (24.3 ± 3.2 years) after folic acid supplementation (p = 0.006). The baseline concentration of serum folate in subjects with polymorphism combination, reduced folate carrier protein, RFC1-80 GA and methylenetetrahydrofolate reductase, MTHFR677 CT?TT, was lower than RFC1-80 AA and MTHFR677 CT?TT (p = 0.002). After folic acid supplementation, a higher increase in the concentration of serum folate was detected in subjects with polymorphism combination RFC1-80 GA and MTHFR677 CC than RFC1-80 GG and MTHFR CT?TT combination (p \ 0.0001). The baseline concentration of plasma total homocysteine (p-tHcy) was altered by combined polymorphisms in genes associated with folate metabolism. After folic acid supplementation, in subjects with combined polymorphisms in methylenetetrahydrofolate dehydrogenase, MTHFD1-1958 and MTHFR-677 genes, the concentration of p-tHcy was changed (p = 0.002). The combination of RFC1-80 and MTHFR-677 polymorphisms had a profound affect on the concentration of serum folate in healthy subjects before and after folic acid supplementation.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study

et al. 2015

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“…9 Currently, it is not known whether MTHFR G1793A affects the functional activity of enzyme. Similar to earlier studies in Caucasians, 10 we did not observe any significant association of mutant 1317CC with either hypertension or Hcy levels.…”

supporting

confidence: 91%

A case–control study of the association between the MTHFR gene and essential hypertension in Asian Indians

et al. 2008

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Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control studies

Pan

Zhang

et al. 2012

American J of Med Genetics Pt A

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Methylenetetrahydrofolate reductase (MTHFR), an important enzyme in folate metabolism, is thought to be involved in the development of nonsyndromic orofacial clefts (NSOC). However, conflicting results have been achieved when evaluating the associations between infants' MTHFR C677T and A1298C polymorphisms and the risk of NSOC. To obtain more precise estimations of these associations, a meta-analysis recruiting 17 case-control studies was performed. Among Asians we found that CT heterozygote, TT homozygote, and CT/TT of infants' MTHFR C677T variant could contribute to elevated risks of NSOC, compared with CC wild-type homozygote (OR=1.741, 95% CI=1.043-2.907 for CT vs. CC, OR=2.311, 95% CI=1.313-4.041 for TT vs. CC, and OR=1.740, 95% CI=1.051-2.882 for CT/TT vs. CC, respectively). Similar effect was also observed on MTHFR 677T T allele, when using C allele as a reference in Asians (OR=1.420, 95% CI=1.191-1.693, for T allele vs. C allele). Furthermore, in stratified analysis by types of disease, CT/CC was suggested to confer decreased susceptibility to CL/P under recessive genetic model (OR=0.854, 95% CI=0.730-1.000). For MTHFR A1298C, the MTHFR 1298C allele in the case group of Caucasians was significantly lower than that in the control group, suggesting a protective effect against NSOC in Caucasian populations (OR=0.711, 95% CI=0.641-0.790, for C allele vs. A allele). In conclusion, the meta-analysis provided confirmative evidences that infants' MTHFR C677T and A1298C polymorphisms were involved in the development of NSOC.

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Methylenetetrahydrofolate reductase (MTHFR) c677t gene variant modulates the homocysteine folate correlation in a mild folate-deficient population

Cited by 75 publications

References 34 publications

Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study

Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study

A case–control study of the association between the MTHFR gene and essential hypertension in Asian Indians

Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control studies

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