ArticleBirth defects research. Part A, Clinical and molecular teratology2011
Folate pathway and nonsyndromic cleft lip and palate.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Maternal micronutrient biomarkers and risk of non-syndromic cleft lip/palate: A case-control study.Oral diseases · 2025Article
- Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease.Frontiers in pediatrics · 2022Article
- Evaluating the Expression of Candidate Homeobox Genes and Their Role in Local-Site Inflammation in Mucosal Tissue Obtained from Children with Non-Syndromic Cleft Lip and Palate.Journal of personalized medicine · 2021Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.Pediatric research · 2021Article
- Gene-Environment Interplay and MicroRNAs in Cleft Lip and Cleft Palate.Oral science international · 2021Article
- Association betweenAnnals of translational medicine · 2019Article
- Anatomical patterns of cleft lip and palate deformities among neonates in Mekelle, Tigray, Ethiopia; implication of environmental impact.BMC pediatrics · 2019Article
- Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2019Article
- MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.BMC medical genomics · 2019Article
- Network-based identification of critical regulators as putative drivers of human cleft lip.BMC medical genomics · 2019Article
- Shared molecular networks in orofacial and neural tube development.Birth defects research · 2017Article
- Article
- Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2016Article
- MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate.Genetic testing and molecular biomarkers · 2016Article
- Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer.Molecular medicine reports · 2016Article
- Toward an orofacial gene regulatory network.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Review
- Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.Molecular neurobiology · 2016Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundNonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. Periconceptional supplementation with folic acid, a key component in DNA synthesis and cell division, has reduced the birth prevalence of neural tube defects and may similarly reduce the birth prevalence of other complex birth defects including NSCLP. Past studies investigating the role of two common methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs), C677T (rs1801133) and A1298C (rs1801131), in NSCLP have produced conflicting results. Most studies of folate pathway genes have been limited in scope, as few genes/SNPs have been interrogated. Here, we asked whether variations in a more comprehensive group of folate pathway genes were associated with NSCLP, and were there detectable interactions between these genes and environmental exposures?
methodsFourteen folate metabolism-related genes were interrogated using 89 SNPs in multiplex and simplex non-Hispanic white and Hispanic NSCLP families.
resultsEvidence for a risk association between NSCLP and SNPs in NOS3 and TYMS was detected in the non-Hispanic white group, whereas associations with MTR, BHMT2, MTHFS, and SLC19A1 were detected in the Hispanic group. Evidence for over-transmission of haplotypes and gene interactions in the methionine arm was detected.
conclusionsThese results suggest that perturbations of the genes in the folate pathway may contribute to NSCLP. There was evidence for an interaction between several SNPs and maternal smoking, and for one SNP with gender of the offspring. These results provide support for other studies that suggest that high maternal homocysteine levels may contribute to NSCLP and should be further investigated.
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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.