Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects

Cunha, A. L. A.; Hirata, Mario H.; Kim, Chong; Guerra-Shinohara, Elvira María; Nonoyama, Kymio; Hirata, Rosário Dc

doi:10.1016/s0009-8981(01)00764-1

Cited by 43 publications

(31 citation statements)

References 14 publications

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“…The frequency of T allele in affected children was similar to those found in NTD patients from Europe and Turkey van der Put and Blom, 2000;Volcick et al, 2000). However, the direct association between C677T polymorphism of the MTHFR gene and NTDs found in other populations could not be demonstrated in our study (Eskes, 1998;Melvin et al, 2000;Cunha et al, 2002;Karalti et al, 2007). The reason for the variance between different studies could be the difference of 677T allele frequency among different populations.…”

Section: Discussioncontrasting

confidence: 83%

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

Erdoğan¹,

Yildiz²,

Solak³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B 12 and methionine, whereas homocysteine levels are increased. We examined folate, vitamin B 12 and homocysteine serum concentrations and polymorphism of the C677T MTHFR gene in Turkish children with neural tube defects. Thirty-three children with NTDs, 26 mothers and 48 healthy individuals were studied. C677T MTHFR polymorphism was determined by melting curve analyses (LightCycler ® ). The levels of folate, vitamin B 12 and homocysteine serum concentrations in NTDs were evaluated and compared, along with information concerning alleles of the MTHFR gene. C677T allele frequencies in NTD children and their mothers were similar to those found in controls. Serum folate and vitamin B 12 concentrations were significantly higher in NTD children than that of controls. Serum homocysteine concentrations were not significantly higher in NTD children and mothers. We concluded that C677T MTHFR gene polymorphism does not affect folic acid, vitamin B 12 and homocysteine metabolism in Turkish children with NTDs. C677T polymorphism of the MTHFR gene cannot be regarded as a major risk factor for NTDs in Turkish children.

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Section: Discussioncontrasting

confidence: 83%

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

Erdoğan¹,

Yildiz²,

Solak³

et al. 2010

Genet. Mol. Res.

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“…Similarly, Haggarty et al (2008) reported that the frequency of the 1299CC genotype was essentially the same in the children and their mothers (9.0 and 9.1%, respectively). Furthermore, Cunha et al (2002) could not find a direct association between the A1298C polymorphism and occurrence of NTDs. ParleMcDermott et al (2003) reported that case-control comparisons and log linear analysis did not reveal an association between the A1298C polymorphism and occurrence of NTDs.…”

Section: Discussionmentioning

confidence: 72%

“…It has also been reported that the combination of MTHFR polymorphisms and low folate and vitamin B12 intake is associated with a greater risk for NTDs than each variable alone, indicating a strong genetic-nutritional interaction (Molloy et al, 1998;Stegmann et al, 1999). Cunha et al (2002) reported that the mutant C allele was not associated with differences in folate and vitamin B12 concentrations in children with NTDs. Furthermore, the same researchers found higher concentrations of homocysteine in children with NTDs who have the 1289AA MTHFR genotype.…”

Section: Discussionmentioning

confidence: 99%

Lack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study group

Yildiz¹,

Erdoğan²,

Solak³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The etiology underlying neural tube defects (NTDs) is not fully understood and is believed to involve a complex milieu of genetic and environmental factors. The A1298C polymorphism in the methylenetetrahydropholate reductase gene (MTHFR) has been associated with mild risk for NTDs. In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocysteine, vitamin B12, and folate were evaluated in 33 children with NTDs, their mothers, and 46 healthy controls. Genotyping of the A1298C polymorphism was performed by real-time polymerase chain reaction. The A and C allele frequencies in children with NTDs and their mothers were similar to controls (P = 0.160). The 1298AA and 1298CC genotype frequencies (P = 0.551 and 0.062, respectively) in children with NTDs and their mothers did not differ from controls. On the other hand, the 1298AC genotype frequencies in children with NTDs and their mothers were significantly different from controls (P = 0.025). The genotype frequency of 1298AC was lower in children with NTDs than in controls. There was no significant association between clinical distribution of NTDs and 1298AA/AC/CC genotypes (P > 0.05). Serum vitamin B12 levels were higher in children with NTDs than their mothers and controls (P = 0.001). There were no differences among serum homocysteine and folate levels in all groups (P = 0.494 and 0.141, respectively). Both genetic and nutritional factors are important in the etiology of NTDs. Thus, the A1298C polymorphism cannot be regarded as a major risk factor for NTDs.

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“…A freqüência do alelo T do polimorfismo MTHFR C677T, obtida no presente estudo, foi 27,4% e é semelhante àquelas citadas em outros estudos realizados no Brasil (ALESSIO et al, 2004;CUNHA et al, 2002;PEREZ et al, 2003;BARBOSA et al, 2008), na França (CHANGO et al, 2000FILLON-EMERY et al, 2004), no…”

Section: Efeito Do Polimorfismo C677t No Gene Da Mthfrunclassified

Efeito das concentrações das vitaminas (séricas e da dieta) e do polimorfismo MTHFR C677T na taxa de metilação global do DNA durante o período gestacional

Kubota¹

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Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects

Cited by 43 publications

References 14 publications

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

Lack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study group

Efeito das concentrações das vitaminas (séricas e da dieta) e do polimorfismo MTHFR C677T na taxa de metilação global do DNA durante o período gestacional

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