ArticleBirth defects research. Part A, Clinical and molecular teratology2014
Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 28 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
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- 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
- Association and Interaction Effect ofNutrients · 2022Article
- Precise Dose of Folic Acid Supplementation Is Essential for Embryonic Heart Development in Zebrafish.Biology · 2021Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS genetics · 2021Article
- The polymorphism of rs11614913 T/T in pri-American journal of translational research · 2020Article
- Gene-by-gene interactions associated with the risk of conotruncal heart defects.Molecular genetics & genomic medicine · 2020Article
- Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth defects research · 2019Article
- PDGFRA gene, maternal binge drinking and obstructive heart defects.Scientific reports · 2018Article
- NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.American journal of medical genetics. Part A · 2018Article
- Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.Genetic epidemiology · 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
- Testing Allele Transmission of an SNP Set Using a Family-Based Generalized Genetic Random Field Method.Genetic epidemiology · 2016Article
- Article
- Low nourishment of B-vitamins is associated with hyperhomocysteinemia and oxidative stress in newly diagnosed cardiac patients.Experimental biology and medicine (Maywood, N.J.) · 2016Article
- Detecting gene-environment interactions in human birth defects: Study designs and statistical methods.Birth defects research. Part A, Clinical and molecular teratology · 2015Article
- Developments in our understanding of the genetic basis of birth defects.Birth defects research. Part A, Clinical and molecular teratology · 2015Review
- Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.American journal of medical genetics. Part A · 2015Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWe investigated the association between conotruncal heart defects (CTDs) and maternal and fetal single nucleotide polymorphisms (SNPs) in 60 genes in the folate, homocysteine, and transsulfuration pathways. We also investigated whether periconceptional maternal folic acid supplementation modified associations between CTDs and SNPs
methodsParticipants were enrolled in the National Birth Defects Prevention Study between 1997 and 2008. DNA samples from 616 case-parental triads affected by CTDs and 1645 control-parental triads were genotyped using an Illumina® Golden Gate custom SNP panel. A hybrid design analysis, optimizing data from case and control trios, was used to identify maternal and fetal SNPs associated with CTDs
resultsAmong 921 SNPs, 17 maternal and 17 fetal SNPs had a Bayesian false-discovery probability of <0.8. Ten of the 17 maternal SNPs and 2 of the 17 fetal SNPs were found within the glutamate-cysteine ligase, catalytic subunit (GCLC) gene. Fetal SNPs with the lowest Bayesian false-discovery probability (rs2612101, rs2847607, rs2847326, rs2847324) were found within the thymidylate synthetase (TYMS) gene. Additional analyses indicated that the risk of CTDs associated with candidate SNPs was modified by periconceptional folic acid supplementation. Nineteen maternal and nine fetal SNPs had a Bayesian false-discovery probability <0.8 for gene-by-environment (G × E) interactions with maternal folic acid supplementation.
conclusionThese results support previous studies suggesting that maternal and fetal SNPs within folate, homocysteine, and transsulfuration pathways are associated with CTD risk. Maternal use of supplements containing folic acid may modify the impact of SNPs on the developing heart.
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