MTHFR C677T polymorphism, folate, vitamin B<sub>12</sub> and homocysteine in recurrent pregnancy losses: a case control study among north Indian women

Puri, Manju; Kaur, Lovejeet; Walia, Gagandeep Kaur; Mukhopadhhyay, Rupak; Sachdeva, M.P.; Trivedi, Shubha Sagar; Ghosh, Pradeep; Saraswathy, Kallur Nava

doi:10.1515/jpm-2012-0252

Cited by 51 publications

(41 citation statements)

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“…In our study, the frequency of genetic polymorphisms that encode enzymes involved in folate-and vitamin B12-dependent homocysteine metabolism, the MTHFR C677T and A1298C; MS A2756G and CBS 844ins68 insertion, did not show differences in a group of women with recurrent miscarriage and a control group. This is in agreement with Puri et al 15 and Zonouzi et al that investigated the MTHFR polymorphisms in North India and Iran respectively. In contrast, other studies described the relationship between the gene polymorphisms: MTHFR 4,20 ; MS 26 and recurrent abortion.…”

Section: Discussionsupporting

confidence: 92%

“…Previous studies had demonstrated a higher frequency of homozygous to the MTHFR C677T genotype and higher tHcy serum levels in women with recurrent miscarriage than in control groups 15,22 . However, Creus et al 6 and Pihusch et al 25 did not demonstrate such association.…”

Section: Discussionmentioning

confidence: 85%

“…The 844ins68 insertion of the CBS gene, apparently, does not cause a decrease of enzyme activity, but the allele carriers have an impaired gene transcription 14 . Several complications in pregnancy have been attributed to hyperhomocysteinemia, such as neural tube defects, pre-eclampsia and recurrent pregnancy loss 9,10,15 . The aim of this study was to investigate polymorphisms in genes that encode enzymes involved in folateand vitamin B12-dependent homocysteine metabolisms, such as C677T and A1298C in the MTHFR gene, the A2756G in the MS gene and the 844ins68 insertion in CBS gene in a group of women with recurrent pregnancy loss and in a group of women that comprised the controls, investigating its association with serum levels of vitamin B12, folate and homocysteine.…”

Section: Introductionmentioning

confidence: 99%

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Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Boas¹,

Gonçalves²,

Costa³

et al. 2015

Rev. Bras. Ginecol. Obstet.

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PURPOSE: To investigate the association between polymorphisms in genes that encode enzymes involved in folate-and vitamin B12-dependent homocysteine metabolism and recurrent spontaneous abortion (RSA). METHODS: We investigated the C677T and A1298C polymorphisms of the methylenetetrahydrofalate reductase gene (MTHFR), the A2756G polymorphism of the methionine synthase gene (MS) and the 844ins68 insertion of the cystathionine beta synthetase gene (CBS). The PCR technique followed by RFLP was used to assess the polymorphisms; the serum levels of homocysteine, vitamin B 12 and folate were investigated by chemiluminescence. The EPI Info Software version 6.04 was used for statistical analysis. Parametric variables were compared by Student's t-test and nonparametric variables by the Wilcoxon rank sum test. RESULTS: The frequencies of gene polymorphisms in 89 women with a history of idiopathic recurrent miscarriage and 150 controls were 19.1 and 19.6% for the C677T, insertion, 20.8 and 26% for the A1298C insertion, 14.2 and 21.9% for the A2756G insertion, and 16.4 and 18% for the 844ins68 insertion, respectively. There were no significant differences between case and control groups in any of the gene polymorphisms investigated. However, the frequency of the 844ins68 insertion in the CBS gene was higher among women with a history of loss during the third trimester of pregnancy (p=0.003). Serum homocysteine, vitamin B 12 and folate levels id not differ between the polymorphisms studied in the case and control groups. However, linear regression analysis showed a dependence of serum folate levels on the maintenance of tHcy levels. CONCLUSION: The investigated gene polymorphisms and serum homocysteine, vitamin B 12 and folate levels were not associated with idiopathic recurrent miscarriage in the present study. Further investigations are needed in order to confirm the role of the CBS 844ins68 insertion in recurrent miscarriage. ResumoOBJETIVO: Investigar a associação entre polimorfismos nos genes que codificam enzimas envolvidas no metabolismo da homocisteína dependente de folato e vitamina B12 e aborto espontâneo recorrente. MÉTODOS: Investigamos os polimorfismos C677T e A1298C no gene methilenotetrahidrofalato redutase (MTHFR); o polimorfismo A2756G no gene metionina sintase (MS) e a inserção 844ins68 no gene da cistationina beta-sintetase (CBS). A técnica de PCR seguido por RFLP foi utilizada para investigar os polimorfismos. Os níveis séricos de homocisteína, vitamina B12 e de folato foram investigados pela técnica de quimioluminescência. O Software Epi Info versão 6.04 foi utilizado para realizar a análise estatística. As variáveis paramétricas foram comparadas pelo teste t de Student e as variáveis não paramétricas pelo teste de Wilcoxon rank sum. RESULTADOS: As frequências dos polimorfismos gênicos em 89 mulheres com história de aborto recorrente idiopático e 150 controles foram de 19,1 e 19,6% para o C677T; 20,8 e 26% para o A1298C; 14,2 e 21,9% para o A2756G e 16,4 e 18% para a inserção 844ins68, respectiva...

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

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Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Boas¹,

Gonçalves²,

Costa³

et al. 2015

Rev. Bras. Ginecol. Obstet.

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“…; Puri et al . ). In relation to cognitive outcomes in children, several studies did not find an association between maternal tHcy levels and cognitive measures (Tamura et al .…”

Section: Discussionmentioning

confidence: 97%

Effects of maternal vitamin B12 supplementation on early infant neurocognitive outcomes: a randomized controlled clinical trial

Srinivasan

Thomas²,

Kapanee

et al. 2016

Maternal & Child Nutrition

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Maternal nutritional status during pregnancy impacts fetal brain development. Vitamin B12 plays a vital role in neuronal development. However, findings from studies on the association between maternal B12 status and child cognitive functions have been inconsistent. We performed a randomized, placebo-controlled clinical trial of oral B12 supplementation (50 μg) beginning at < 14 wk of gestation through 6 wk postpartum. In the present study, we report the effects of maternal B12 supplementation on cognitive development in infants at 9 months of age on Bayley Scales of Infant Development-III (BSID-III). One hundred eighty-three pregnant women received vitamin B12 and 183 received placebo. Nine month BSID-III development score was available in 178 infants. There were no significant differences in maternal socio-demographic characteristics and baseline biochemical measures between infants who underwent BSID-III evaluation and non-evaluated infants. There were no significant differences in any of the sub-scales of BSID-III between infants born to mothers who received B12 supplementation (n=78) Vs placebo (n=100). On multiple regression analysis elevated maternal tHcy levels adjusted for treatment group, birth weight, parity, income and home environment, at second trimester of pregnancy was significantly negatively associated with expressive language-β=3.13 points, p< 0.001) and in third trimester of pregnancy with expressive language (β= −2.29 points, p< 0.001) and fine motor ( β= −1.41 points, p=0.005) domains of BSID-III. While no significant effects of maternal B12 supplementation were seen on cognitive development in infants at 9 months of age, elevated maternal tHcy levels was associated with poorer cognitive performance in some of the sub-domains of BSID-III. In pregnant women with elevated tHcy levels and or B12 deficiencies it may be worthwhile to study the impact of longer term maternal supplementation on infant cognitive outcomes.

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“…Elevated levels of homocysteine have been associated with many diseases, such as neurodegenerative disorders, recurrent pregnancy loss, neural tube defects, ischemic heart disease and stroke, atherosclerosis, and congenital defects [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34]. Our study shows that the MTRR rs326119 polymorphism is associated with levels of plasma homocysteine.…”

Section: Discussionmentioning

confidence: 70%

MTRR rs326119 polymorphism is associated with plasma concentrations of homocysteine and cobalamin, but not with congenital heart disease or coronary atherosclerosis in Brazilian patients

Horita

Bueno

Horimoto

et al. 2017

IJC Heart & Vasculature

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BackgroundDifferences in the distribution of the MTRR rs326119 polymorphism (c.56 + 781 A > C) between patients with congenital heart disease (CHD) and controls have been described in Chinese individuals. The association is thought to be due to deregulation of homocysteine-cobalamin pathways. This has not been replicated in other populations. The primary objective of this study was to assess the influence of the MTRR rs326119 polymorphism on biochemical parameters of vitamin B12 metabolism, coronary lesions, and congenital heart disease in Brazilian subjects.MethodsWe selected 722 patients with CHD, 1432 patients who underwent coronary angiography, and 156 blood donors. Genotyping for the MTRR polymorphism was evaluated by high-resolution melting analysis, and biochemical tests of vitamin B12 metabolism were measured.ResultsSubjects carrying the AC or CC genotypes had higher homocysteine concentrations (9.7 ± 0.4 μmol/L and 10.1 ± 0.6 μmol/L) and lower cobalamin concentrations (260.5 ± 13.3 pmol/L and 275.6 ± 19.9 pmol/L) compared with the subjects carrying the AA genotype (8.7 ± 0.5 μmol/L and 304.8 ± 14.7 pmol/L), respectively. A multiple linear regression model also identified a significant association between the number of C variant alleles with the concentrations of homocysteine and cobalamin. Nonetheless, the allelic and genotypic distributions for MTRR rs326119 were not associated with CHD or coronary atherosclerosis in the studied samples.ConclusionOur findings indicate that the MTRR rs326119 variant might be a genetic marker associated with homocysteine and cobalamin concentrations, but not a strong risk factor for CHD or coronary atherosclerosis in the Brazilian population.

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MTHFR C677T polymorphism, folate, vitamin B₁₂ and homocysteine in recurrent pregnancy losses: a case control study among north Indian women

Abstract: Low vitamin B₁₂ increases homocysteine, specifically among T allele carrying case mothers, suggesting T allele is detrimental with B₁₂ deficiency. The study emphasizes the importance of vitamin B₁₂ in the prevention of RPL in North Indian women.

Cited by 51 publications

References 5 publications

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Effects of maternal vitamin B12 supplementation on early infant neurocognitive outcomes: a randomized controlled clinical trial

MTRR rs326119 polymorphism is associated with plasma concentrations of homocysteine and cobalamin, but not with congenital heart disease or coronary atherosclerosis in Brazilian patients

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MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among north Indian women

Abstract: Low vitamin B₁₂ increases homocysteine, specifically among T allele carrying case mothers, suggesting T allele is detrimental with B₁₂ deficiency. The study emphasizes the importance of vitamin B₁₂ in the prevention of RPL in North Indian women.

Cited by 51 publications

References 5 publications

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Effects of maternal vitamin B12 supplementation on early infant neurocognitive outcomes: a randomized controlled clinical trial

MTRR rs326119 polymorphism is associated with plasma concentrations of homocysteine and cobalamin, but not with congenital heart disease or coronary atherosclerosis in Brazilian patients

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MTHFR C677T polymorphism, folate, vitamin B₁₂ and homocysteine in recurrent pregnancy losses: a case control study among north Indian women