ArticleJournal of medical genetics2006
Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 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.
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Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.Italian journal of pediatrics · 2017Pooled 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
- Trial
- Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS genetics · 2021Article
- Study on Maternal SNPs of MTHFR Gene and HCY Level Related to Congenital Heart Diseases.Pediatric cardiology · 2021Article
- TheDiabetology & metabolic syndrome · 2019Article
- Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population.BMC pediatrics · 2018Article
- Risk factors and methylenetetrahydrofolate reductase gene in congenital heart disease.Journal of thoracic disease · 2018Article
- The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.Pediatric cardiology · 2015Article
- Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.American journal of medical genetics. Part A · 2015Article
- Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease.PloS one · 2015Article
- A genetic association study detects haplotypes associated with obstructive heart defects.Human genetics · 2014Article
- Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.JAMA pediatrics · 2014Review
- Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
- Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis.Paediatric and perinatal epidemiology · 2011Article
- NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
- Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.Genetic epidemiology · 2010Article
- Maternal folate-related gene environment interactions and congenital heart defects.Obstetrics and gynecology · 2010Article
- MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.International journal of genetics and molecular biology · 2010Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundMost non-syndromic congenital heart defects (CHD) are caused by a complex interaction between maternal lifestyle factors, environmental exposures, and maternal and fetal genetic variants. Maternal periconceptional intake of folic acid containing vitamin supplements is reported to decrease the risk of CHD. The 677C-->T and 1298A-->C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene decrease enzyme activity.
objectiveTo examine the relation between CHD and maternal and fetal MTHFR polymorphisms.
methods375 nuclear families were studied. The transmission/disequilibrium test was used to test for transmission distortion in complete triads. A log-linear approach was used to test for associations between CHD and maternal and offspring polymorphisms, and to estimate independently the contributions of maternal and fetal variants to relative risks. Haplotype frequencies were estimated and a haplotype transmission disequilibrium test carried out.
resultsThe 1298C allele was transmitted less often than expected (p = 0.0013). There was no distortion in the transmission of the 677T allele, neither was there evidence of a parent of origin effect in the transmission of either of the single nucleotide polymorphisms. The 677C-1298C haplotype was also transmitted less often than expected (p = 0.0020). The relative risk associated with inheriting one copy of the 1298C allele was 0.64 (95% confidence interval, 0.48 to 0.87) and the that associated with inheriting two copies of the 1298C allele, 0.38 (0.21 to 0.70).
conclusionsThe apparent protective effect of the MTHFR 1298C allele against CHD could have several explanations and further study is needed.
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