ArticleBirth defects research. Part A, Clinical and molecular teratology2011
NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.
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 5 papers.
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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
5 citing papers in PubMed, 10 citations in OpenAlex.
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Genome-wide association study of maternal and inherited loci for conotruncal heart defects.PloS one · 2014Article
- A case-parent triad assessment of folate metabolic genes and the risk of childhood acute lymphoblastic leukemia.Cancer causes & control : CCC · 2012Article
- Thymidylate synthase polymorphisms and risk of conotruncal heart defects.American journal of medical genetics. Part A · 2012Article
- Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.PloS one · 2012Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAlthough congenital heart defects (CHDs) are a common and serious group of birth defects, relatively little is known about the causes of these conditions, and there are no established prevention strategies. There is, however, evidence suggesting that the risk of CHDs in general, and conotruncal and related defects (CTRDs) in particular, may be associated with maternal folate status and genetic variants of folate-related genes. Although several folate-related genes have been studied as they relate to CHDs and CTRDs (e.g., MTHFR), others have not been adequately assessed.
methodsCase-parent triads were examined using log-linear analyses to assess the associations between CTRDs and both the genotype inherited by the case and the maternal genotype for the following variants: NAT1 1095C>A, NOS3 894G>T, and TYMS 1494del6. Subgroup analyses were also conducted among cases with classic conotruncal defects and cases with normally related great arteries.
resultsThe results provided little evidence that CTRD risk was associated with the genotype inherited by the case for any of the analyzed variants. However, our results suggest that CTRD risk may be associated with the maternal genotype for NOS3 894G>T (p = 0.024 in the subgroup with normally related great arteries) and TYMS 1494del6 (p = 0.048 in the subgroup with classic conotruncal defects). However, these results were not significant after correcting for multiple comparisons.
conclusionThis study provides further evidence that CTRD risk may be related to variation within folate-pathway genes and suggests that these associations are, at least in part, mediated through the maternal genotype.
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