Folate Levels and N 5, N 10-Methylenetetrahydrofolate Reductase Genotype (MTHFR) in Mothers of Offspring with Neural Tube Defects

Villarreal, L.; Delgado‐Enciso, Iván; Valdéz-Leal, Ramón; Ortı́z-López, Rocio; Rojas-Martı́nez, Augusto; Limón-Benavides, Carmen; Sánchez-Peña, María Alejandra; Áncer‐Rodríguez, Jesús; Barrera-Saldaña, Hugo A.; Villarreal-Pérez, Jesús Zacarías

doi:10.1016/s0188-4409(01)00292-2

Cited by 62 publications

(45 citation statements)

References 35 publications

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“…In order to investigate whether variation in the genotype and allele frequencies of the C677T polymorphism observed in the Mestizo population of different regions of Mexico (Mutchinick et al, 1999;Martínez de Villarreal et al, 2001;Dávalos et al, 2000) also occurs among ethnic groups in the rest of the country, we compared our results with previous reports, and found that the differences were more significant when Nahuas and Mixtecos were compared with the Tarahumaras group (P < 0.001). There was virtually no difference when the comparison was made with the Purepecha group.…”

Section: Discussionmentioning

confidence: 97%

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Antonio-Véjar¹,

Moral-Hernández²,

Alarcón-Romero³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. In this study, we examined the distribution of genotype and allele frequencies of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase gene (MTHFR) in two ethnic groups in the State of Guerrero, Mexico, which were compared with those of the Mestizo population of the region. A comparative study was conducted on 455 women from two ethnic groups and a group of Mestizo women of the State of Guerrero, Mexico: 135 Nahuas, 124 Mixtecas, and 196 Mestizas. Genotyping of both polymorphisms were performed by using polymerase chain reaction-restriction fragment length polymorphism methods. We found that the 677TT genotype was more frequent in Nahua and Mixteca women compared to Mestiza women (P = 0.008), and the most prevalent genotype in both ethnic groups was the 1298AA genotype (P < 0.001). We also compared Ethnic variation of MTHFR polymorphisms in Mexico the 677T allele frequency obtained from the groups studied with the frequencies reported in other ethnic groups of Mexico (Huichol, Tarahumara, and Purepecha). There were significant differences between the three ethnic groups compared to Nahuas (Huicholes, P = 0.004; Tarahumaras, P < 0.001; Purepechas, P = 0.042). Our results indicated significant differences in the frequencies of the C677T and A1298C polymorphisms between the two ethnic groups and the Mestizo population of the State of Guerrero. In addition, we found strong differences with other ethnic groups in Mexico. These results could be useful for future studies investigating diseases related to folate metabolism, and could help the government to design specific nutrition programs for different ethnic groups.

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Section: Discussionmentioning

confidence: 97%

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Antonio-Véjar¹,

Moral-Hernández²,

Alarcón-Romero³

et al. 2014

Genet. Mol. Res.

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“…Inconsistent results have been published on the protective effect of folate. Thus, some studies showed similar serum folate levels between mothers of children with NTD and mothers of controls (6,(8)(9)(10) , whereas others reported lower serum folate levels in case v. control mothers (11,38) . There has even been a recent report from Brazil of significantly lower serum folate levels in control mothers and their children than in mothers of NTD patients and the NTD patients themselves, which the authors attributed to a greater dietary intake of folate by the case group (7) .…”

Section: Discussionmentioning

confidence: 99%

“…The 677C-T mutation causes an alanine to valine substitution in the predicted catalytic domain of MTHFR, rendering the enzyme thermolabile, with reduced activity under conditions of low folate concentrations (15) . Homozygosity for the 677T allele is associated with an increase in plasma Hcy levels and a decreased methyltetrahydrofolate pool, predominantly in states of folate, cobalamin and riboflavin (vitamin B 2 ) deficiency (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19) . The other polymorphism, 1298A-C, which leads to substitution of an adenine by a cytosine, has also been associated with decreased MTHFR enzyme activity, although not as pronounced as that caused by the 677C-T polymorphism (18,20,21) .…”

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confidence: 99%

Effect on risk of anencephaly of gene–nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B₁₂and homocysteine profile

Lacasaña

Blanco-Muñoz

Borja-Aburto

et al. 2012

Public Health Nutr.

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Objective: To evaluate the effects on anencephaly risk of the interaction between the maternal profile of folate, vitamin B 12 and homocysteine and the 677C-T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR). Design: Case-control study paired (1:1) on maternity clinic, date of birth and state of residence. Cases of anencephaly were identified using the Registry of the Mexican Neural Tube Defect Epidemiological Surveillance System. Case and control mothers were selected from the same maternity departments. All mothers completed a structured questionnaire and blood samples were obtained to determine the MTHFR 677C-T polymorphism and biochemical profile. Setting: Mexico, Puebla and Guerrero states, Mexico. Subjects: A total of 151 mothers of cases and controls were enrolled from March 2000 to February 2001. We had complete information on biochemical profile and MTHFR C677T polymorphism for ninety-eight mothers of cases and ninety-one mothers of controls. Results: The adjusted models show that the risk of anencephaly in mothers with 677TT genotype was reduced by 18 % (OR 5 0?82; 95 % CI 0?72, 0?94) for each 1 ng/ml increment in serum folate. In terms of tertiles, mothers with 677TT genotype with serum folate levels in the upper tertile (.14?1 ng/ml) had a 95 % lower risk to have a child with anencephaly than mothers with serum folate levels in the first and second tertiles (P trend 5 0?012). Conclusions: Our data agree with the hypothesis of a gene-nutrient interaction between MTHFR 677C-T polymorphism and folate status. We observed a protective effect on anencephaly risk only in mothers with 677TT genotype as serum folate levels increased.

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“…Folate depletion is associated with increased risks of cervical (28), colon (29), and esophageal cancer (30). Maternal deficiency of folate during early gestation is associated with the increased incidence of neural tube defects (31,32) and congenital cardiac anomalies (33). Maternal ingestion of pharmaceutical folate antagonists during pregnancy also increases the risk of cardiovascular, palatal, and urinary tract defects (34).…”

Section: Discussionmentioning

confidence: 99%

Fruit and Vegetable Intake during Pregnancy and Risk for Development of Sporadic Retinoblastoma

Orjuela

Titievsky

Liu

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Objective: Little is known about the causes of sporadic (noninherited) retinoblastoma. Rates seem to be somewhat higher among poorer populations in Mexico. Fruits and vegetables are important sources of carotenoids and folate. We examined whether decreased gestational maternal intake of fruits and vegetables may contribute to development of sporadic retinoblastoma. Methods: At the Instituto Nacional de Pediatria in Mexico City, we conducted a hospital-based case-control study to evaluate prenatal maternal diet. We examined dietary intake of fruits and vegetables of mothers of 101 children with retinoblastoma and 172 control children using a dietary recall questionnaire and published food nutrient content tables. Results: The reported number of mean daily servings of fruits and vegetables was lower among case mothers when compared with control mothers [vegetables: 2.28 in controls, 1.75 in cases (P < 0.01); fruits: 2.13 in controls, 1.59 in cases (P = 0.07)]. Mean daily maternal folate intake from both vegetables and fruits was higher in controls (103 Mg) than in cases (48 Mg; P < 0.05). Risk for having a child with retinoblastoma was increased for mothers consuming fewer than 2 daily servings of vegetables [odds ratios (OR), 3.4; 95% confidence interval (95% CI), 2.0-6.0] or with a low intake of folate (OR, 3.9; 95% CI, 2.1, 7.3), or lutein/zeaxanthin (OR, 2.6; 95% CI, 1.5-4.6) derived from fruits and vegetables. Conclusions: Decreased intake of vegetables and fruits during pregnancy and the consequent decreased intake of nutrients such as folate and lutein/zeaxanthin, necessary for DNA methylation, synthesis, and retinal function, may increase risk for having a child with sporadic retinoblastoma. (Cancer Epidemiol Biomarkers Prev 2005;14(6):1433 -40)

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Folate Levels and N 5, N 10-Methylenetetrahydrofolate Reductase Genotype (MTHFR) in Mothers of Offspring with Neural Tube Defects

Cited by 62 publications

References 35 publications

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Effect on risk of anencephaly of gene–nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B₁₂and homocysteine profile

Fruit and Vegetable Intake during Pregnancy and Risk for Development of Sporadic Retinoblastoma

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Folate Levels and N 5, N 10-Methylenetetrahydrofolate Reductase Genotype (MTHFR) in Mothers of Offspring with Neural Tube Defects

Cited by 62 publications

References 35 publications

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Effect on risk of anencephaly of gene–nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12and homocysteine profile

Fruit and Vegetable Intake during Pregnancy and Risk for Development of Sporadic Retinoblastoma

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Effect on risk of anencephaly of gene–nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B₁₂and homocysteine profile