ArticleJournal of medical genetics1998
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.PloS one · 2013Pooled it
- Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.American journal of human genetics · 2025Article
- Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.Journal of personalized medicine · 2022Review
- Review
- Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico.PloS one · 2016Article
- Neural tube defects, folic acid and methylation.International journal of environmental research and public health · 2013Review
- Osteoporosis in paediatric patients with spina bifida.The journal of spinal cord medicine · 2012Review
- Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.American journal of medical genetics. Part A · 2008Article
- Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2006Article
- The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy.Journal of endocrinological investigation · 2003Article
- A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.American journal of human genetics · 2002Article
- Study of C677T Methylene Tetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Neural Tube Defects.Asian journal of neurosurgeryArticle
- Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population.Irish journal of medical scienceArticle
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
objectiveTo estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs.
designCase-control study. SUBJECTS: CASES: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy.
settingCASES: three spina bifida centres; young adult controls: DNA banks; newborn controls: regional neonatal screening centres.
main outcome measuresPrevalence of the C677T genotypes in cases and controls by place of birth; odds ratios for spina bifida and estimated attributable fraction.
resultsThe prevalence of T/T, T/C, and C/C genotype was 16.6%, 53.7%, and 29.7% in controls and 25.6%, 43.8%, and 30.6% in cases, respectively. We found no differences between type of defect or place of birth. The odds ratio for spina bifida associated with the T/T genotype v C/C plus T/C was 1.73 (95% CI 1.15, 2.59) and the corresponding attributable fraction was 10.8%. No increased risk was found for heterozygous patients (OR=0.79, 95% CI 0.53-1.18).
conclusionThis study, as well as the meta-analysis we updated, shows that homozygosity for the MTHFR C677T mutation is a moderate risk factor in Europe, and even in Italy where there is a relatively low prevalence of spina bifida. The estimated attributable fraction associated with this risk factor explains only a small proportion of cases preventable by periconceptional folic acid supplementation. Thus, other genes involved in folate-homocysteine metabolism, their interaction, and the interaction between genetic and environmental factors should be investigated further.
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