ArticleMolecular genetics and metabolism2012
Associations between maternal genotypes and metabolites implicated in congenital heart defects.
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
23 citing papers in PubMed, 35 citations in OpenAlex.
- Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use.Birth defects research. Part A, Clinical and molecular teratology · 2015Trial
- Adverse events during pregnancy, circulating metabolites, and congenital malformations: a Mendelian randomization study.BMC pregnancy and childbirth · 2025Article
- Review
- Article
- Determinants of DNMT2/TRDMT1 preference for substrates tRNA and DNA during the evolution.RNA biology · 2023Article
- A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.American journal of medical genetics. Part A · 2022Article
- Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS genetics · 2021Article
- Gene-by-gene interactions associated with the risk of conotruncal heart defects.Molecular genetics & genomic medicine · 2020Article
- Matching tRNA modifications in humans to their known and predicted enzymes.Nucleic acids research · 2019Article
- MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta.Neural regeneration research · 2019Article
- PDGFRA gene, maternal binge drinking and obstructive heart defects.Scientific reports · 2018Article
- A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.American journal of medical genetics. Part A · 2018Article
- A Genetic Variant in FIGN Gene Reduces the Risk of Congenital Heart Disease in Han Chinese Populations.Pediatric cardiology · 2017Article
- Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.BMJ (Clinical research ed.) · 2017Article
- Transgenerational cardiology: One way to a baby's heart is through the mother.Molecular and cellular endocrinology · 2016Review
- Testing Allele Transmission of an SNP Set Using a Family-Based Generalized Genetic Random Field Method.Genetic epidemiology · 2016Article
- A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.Annals of human genetics · 2016Article
- Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.American journal of medical genetics. Part A · 2015Article
- A genetic association study detects haplotypes associated with obstructive heart defects.Human genetics · 2014Article
- Detecting maternal-fetal genotype interactions associated with conotruncal heart defects: a haplotype-based analysis with penalized logistic regression.Genetic epidemiology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe development of non-syndromic congenital heart defects (CHDs) involves a complex interplay of genetics, metabolism, and lifestyle. Previous studies have implicated maternal single nucleotide polymorphisms (SNPs) and altered metabolism in folate-related pathways as CHD risk factors.
objectiveWe sought to discover associations between maternal SNPs and metabolites involved in the homocysteine, folate, and transsulfuration pathways, and determine if these associations differ between CHD cases and controls.
designGenetic, metabolic, demographic, and lifestyle information was available for 335 mothers with CHD-affected pregnancies and 263 mothers with unaffected pregnancies. Analysis was conducted on 1160 SNPs, 13 plasma metabolites, and 2 metabolite ratios. A two-stage multiple linear regression was fitted to each combination of SNP and metabolite/ratio.
resultsWe identified 4 SNPs in the methionine adenosyltransferase II alpha (MAT2A) gene that were associated with methionine levels. Three SNPs in tRNA aspartic acid methyltransferase 1 (TRDMT1) gene were associated with total plasma folate levels. Glutamylcysteine (GluCys) levels were associated with multiple SNPs within the glutathione peroxidase 6 (GPX6) and O-6-methylguanine-DNA methyltransferase (MGMT) genes. The regression model revealed interactions between genotype and case-control status in the association of total plasma folate, total glutathione (GSH), and free GSH, to SNPs within the MGMT, 5,10-methenyltetrahydrofolate synthetase (MTHFS), and catalase (CAT) genes, respectively.
conclusionsOur study provides further evidence that genetic variation within folate-related pathways accounts for inter-individual variability in key metabolites. We identified specific SNP-metabolite relationships that differed in mothers with CHD-affected pregnancies, compared to controls. Our results underscore the importance of multifactorial studies to define maternal CHD risk.
Indexed as
Identifiers
What 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.