Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations

Guéant-Rodríguez, Rosa-María; Guéant, Jean‐Louis; Debard, Renée; Thirion, Sylvie; Hong, Lu; Bronowicki, Jean–Pierre; Namour, Farès; Chabi, Nicodème W.; Sanni, Ambaliou; Anello, Guido; Bosco, Paolo; Romano, Corrado; Amouzou, Emile; Arrieta, Heidy R; Sánchez, Beatriz; Romano, Antonino; Herbeth, Bernard; Guilland, Jean-Claude; Mutchinick, Osvaldo M.

doi:10.1093/ajcn.83.3.701

Cited by 165 publications

(158 citation statements)

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“…Among the Mexican population, the 677T allele frequency is *50 %, which is one of the highest in the world (Guéant-Rodriguez et al 2006). According to estimates by the National Nutrition Survey, in Mexico, 34.7 % of women aged 12-49 years have an inadequate consumption of folate (Barquera et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

et al. 2014

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In this study, we evaluated the effects of dietary intake of vitamin B 12 and folate during pregnancy and their interactions with maternal polymorphism of MTHFR (677C[T; 1298A[C) on intrauterine development. Anthropometric parameters were obtained from 231 newborns that belong to a prospective birth cohort in Morelos, Mexico. Maternal dietary intake of vitamin B 12 and folate was assessed using a semi-quantitative questionnaire administered during the first and third trimesters of the pregnancy. Maternal MTHFR 677C[T and 1298 A[C genotypes were determined by PCR-RFLP. The associations between deficient dietary intake of vitamin B 12 (\2.0 lg/d) and folate (\400 lg/d) in the first and third trimesters and maternal polymorphisms of MTHFR on anthropometric parameters at birth were estimated using a multivariate linear regression model. During pregnancy, the deficient dietary intake was roughly 60 % for folate and 19 % for vitamin B 12 . Allelic frequencies of 677T and 1298C were 59 and 10 %, respectively. After adjusting for confounders, deficiency in maternal dietary intake of vitamin B 12 (\2.0 lg/d) was associated with a significant reduction in length (b * -2.4; 95 % CI -4.3; -0.6) and length-for-age at birth (b * -1.2; 95 % CI -2.3; -0.1) among infants whose mothers were carriers of the 677TT genotype (p for interaction = 0.02). In contrast, no association was observed between deficiency in maternal dietary intake of folate (\400 lg/d) and any anthropometric parameter of newborns. These results suggest that supplementation with vitamin B 12 during pregnancy could have a favorable impact on intrauterine fetal development mainly in populations that are genetically susceptible.

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Section: Introductionmentioning

confidence: 99%

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

et al. 2014

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“…A genetic predisposition to Hcy level is indicated by the fact that individuals having mutation/polymorphism in the Hcy metabolism pathway genes (for example, MTHFR), that lower the enzyme activity, tend to have elevated levels of Hcy (Carmel et al, 2003). However, the frequency of different genotypes varies considerably among populations (Gueant-Rodriguez et al, 2006). Gene polymorphisms impacting Hcy metabolism impair amino-acid metabolism, methylation and nucleotide biosynthesis.…”

Section: Introductionmentioning

confidence: 99%

“…However, in normal populations the frequency of T homozygosity of C677T, swings from 1% (Africa, Southeast Asia) to around 30% (Europe, Americas), suggesting that the SNPs have different selective potential in different populations (Rosenberg et al, 2002;GueantRodriguez et al, 2006;Zee et al, 2007). In populations having high T allele frequency (X20%), the Hcy level tends to be independent of the genotype (Gueant-Rodriguez et al, 2006;Yang et al, 2008). One of the reasons of the ineffectiveness of 677TT homozygotes as a risk factor in Europe and American populations is suspected to be due to non-vegetarian diet that supplements vitamin B6 and 12, and fortification of food with folic acid (McLean et al, 2008;Elmadfa and Singer, 2009).…”

Section: Introductionmentioning

confidence: 99%

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population

Sukla

Raman

2011

Eur J Clin Nutr

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Background/Objectives: Unlike most Western populations, MTHFR 677T is a rare allele and a risk factor for a variety of disorders in India. What kind of nutritional (environmental) and/or genetic factors could contribute to the genetic risk is not known. To assess the incidence of hyperhomocysteinemia and its correlation with the polymorphism in homocysteine (Hcy)-pathway genes and associated cofactors in the native populations of eastern India. Subjects/Methods: Healthy population from four eastern states of India. Genotyping of SNPs, HPLC and chemiluminescencebased assay for homocysteine, vitamin B12 and folic acid.Results: Approximately 30% of the population has hyperhomocysteinemia (415 mmol/lit; hypHcy) with varying frequencies in the four states from where samples were collected (n ¼ 1426). Polymorphisms of MTR and CBS do not affect hypHcy. 677T and 1298C alleles of MTHFR and G80 RFC-1 show association with hypHcy. In contrast, RFC-1 80AA is protective even in presence of 677T MTHFR. Addition of each mutant allele has an additive effect on Hcy level. Vitamin B12 (cofactor in methionine synthesis) clearly modulates the genotypic effect on Hcy level. Although frequency of individuals with low folic acid is B11, 49% of the population is vitamin B12 deficient (o220 pg/lit) and has a significant negative correlation with Hcy. Individuals with optimum vitamin B12 and folic acid generally have low Hcy, even in risk genotypes. Conclusions: One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. Apparently, supplementation of vitamin B 12 to this health-impoverished community may help lessen the risk of several multifactorial disorders.

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“…In contrast, a north-to-south decrease of TT genotype was reported in China [21]. More interestingly, the distribution of the MTHFR genotype may modify it's effect on the plasma homocysteine [17]. All these findings strengthen the importance of studying the influence of this polymorphism in different populations.…”

Section: Discussionmentioning

confidence: 88%

“…The allele frequency is 0.09 in west Africans [17], and 0.06 in Canadian Inuits [18], while in Caucasian, Japanese, and Chinese populations, the allele frequency is much higher [19]. A north-to-south increase of allele 677T prevalence has been observed in Europe [20].…”

Section: Discussionmentioning

confidence: 95%

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

Hong

Hsu

Terwedow

et al. 2007

Bone

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Osteoporotic fractures are a leading cause of disability and, indirectly, of death in the elderly population. Previous studies have shown that homocysteine level and the C677T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) may be involved in the development of osteoporosis and its related fracture in European populations. The aim of this study was to verify the association of this polymorphism with bone mineral density (BMD) and fractures in our 1899 Chinese postmenopausal women. The C677T T-allele frequency in this population was 39.2%. The distribution of the MTHFR genotypes followed the Hardy-Weinberg equilibrium. BMD at total body, total hip or femoral neck did not significantly vary with MTHFR C677T genotype. The T-allele carrier tended to have higher risk of having osteoporosis or osteopenia, but the difference was statistically insignificant. However, Poisson regression analysis revealed that the T-allele carriers had an increased risk of fractures (RR=1.7, 95%CI=1.1-2.7, p=0.01) which occurred before or after menopause. As far as fracture incidence after menopause was concerned, the CT or TT genotype had more than twice the risk of the CC genotype (RR=2.5, 95%CI=1.2-4.9, P=0.009). This association was independent of age, physical activity, occupation, passive smoking, height, weight, years since menopause, and total hip BMD.Our data show that the MTHFR C677T polymorphism is an independent predictor of fracture risk, although it only had a weak effect on BMD. Further study on the mechanistic role that this polymorphism plays in the development of fractures may lead to better understanding of the etiology of osteoporotic fracture.

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Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations

Abstract: Our data agree with the hypothesis of a gene-nutrient interaction between MTHFR 677C-->T polymorphism and folate status that may confer a selective advantage of TT-homozygous genotype when dietary intake of folate is adequate, at least in the areas studied.

Cited by 165 publications

References 58 publications

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

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