ArticleInternational journal of genetics and molecular biology2010
MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.
Article in International journal of genetics and molecular biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 4 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Pharmacogenetic research activity in Central America and the Caribbean: a systematic review.Pharmacogenomics · 2016Pooled it
- Pooled it
- Association between MTHFR polymorphisms and congenital heart disease: a meta-analysis based on 9,329 cases and 15,076 controls.Scientific reports · 2014Pooled it
- MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies.PloS one · 2013Pooled it
- Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect.BioMed research international · 2017Trial
- Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.PloS one · 2016Trial
- The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese.Genetic testing and molecular biomarkers · 2015Trial
- Article
- Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.BMC cardiovascular disorders · 2021Article
- Maternal Hypertension-Related Genotypes and Congenital Heart Defects.American journal of hypertension · 2021Article
- Role of treatment-modifying MTHFR677C>T and 1298A>C polymorphisms in metformin-treated Puerto Rican patients with type-2 diabetes mellitus and peripheral neuropathy.Drug metabolism and personalized therapy · 2017Article
- Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.Molecular biology reports · 2016Article
- Pharmacogenetics of healthy volunteers in Puerto Rico.Drug metabolism and personalized therapy · 2015Review
- The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.Pediatric cardiology · 2015Article
- Association between 5, 10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and congenital heart disease: A meta-analysis.Meta gene · 2013Article
- Polymorphism 677C → T MTHFR gene in Mexican mothers of children with complex congenital heart disease.Pediatric cardiology · 2013Article
- Metabolic correction in the management of diabetic peripheral neuropathy: improving clinical results beyond symptom control.Current clinical pharmacology · 2011Review
- Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene polymorphisms and associated risk of cardiovascular diseases: A study from Jammu region.Indian heart journalArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD.
Identifiers
20657745PMC2908276W2148039511What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.