ArticleBMC medical genomics2010
Polymorphisms in folate-metabolizing genes, chromosome damage, and risk of Down syndrome in Italian women: identification of key factors using artificial neural networks.
Article in BMC medical genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 4 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 4 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.Journal of genetics · 2016Pooled it
- The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.Molecular biology reports · 2014Pooled it
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.Molecular biology reports · 2013Pooled it
- Article
- An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population.Journal of clinical medicine · 2022Article
- One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome.Human cell · 2021Article
- Development of machine learning models to predict RT-PCR results for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients with influenza-like symptoms using only basic clinical data.Scandinavian journal of trauma, resuscitation and emergency medicine · 2020Article
- Comparison of Multivariable Logistic Regression and Other Machine Learning Algorithms for Prognostic Prediction Studies in Pregnancy Care: Systematic Review and Meta-Analysis.JMIR medical informatics · 2020Review
- Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.Molecular and clinical oncology · 2017Article
- The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.Frontiers in genetics · 2015Review
- Outcome predictors in autism spectrum disorders preschoolers undergoing treatment as usual: insights from an observational study using artificial neural networks.Neuropsychiatric disease and treatment · 2015Article
- Application of the back-error propagation artificial neural network (BPANN) on genetic variants in the PPAR-γ and RXR-α gene and risk of metabolic syndrome in a Chinese Han population.Journal of biomedical research · 2014Article
- Application of artificial neural networks to investigate one-carbon metabolism in Alzheimer's disease and healthy matched individuals.PloS one · 2013Article
- The use of mouse models for understanding the biology of down syndrome and aging.Current gerontology and geriatrics research · 2012Article
- Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children.Tzu chi medical journalArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundStudies in mothers of Down syndrome individuals (MDS) point to a role for polymorphisms in folate metabolic genes in increasing chromosome damage and maternal risk for a Down syndrome (DS) pregnancy, suggesting complex gene-gene interactions. This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). Data were analysed using TWIST system in combination with supervised artificial neural networks, and a semantic connectivity map.
resultsTWIST system selected 6 variables (BNMN frequency, MTHFR 677TT, RFC1 80AA, TYMS 1494 6bp +/+, TYMS 28bp 3R/3R and MTR 2756AA genotypes) that were subsequently used to discriminate between MDS and control mothers with 90% accuracy. The semantic connectivity map provided important information on the complex biological connections between the studied variables and the two conditions (being MDS or control mother).
conclusionsOverall, the study suggests a link between polymorphisms in folate metabolic genes and DS risk in Italian women.
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