ArticlePloS one2015
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.International dental journal · 2025Article
- Review
- Association of Methylenetetrahydrofolate Reductase rs1801133 Gene Polymorphism with Cancer Risk and Septin 9 Methylation in Patients with Colorectal Cancer.Journal of gastrointestinal cancer · 2024Article
- Review
- Maternal Risk Factors Triggering Congenital Heart Defects in Down Syndrome: A Case-Control Study.Pediatric reports · 2022Article
- One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome.Human cell · 2021Article
- The role of DNA methylation in syndromic and non-syndromic congenital heart disease.Clinical epigenetics · 2021Review
- Environmental and socio-cultural impacts on global DNA methylation in the indigenous Huichol population of Nayarit, Mexico.Environmental science and pollution research international · 2021Article
- Polyphenol-RichFrontiers in nutrition · 2021Article
- Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.Frontiers in genetics · 2019Article
- MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.Intractable & rare diseases research · 2017Article
- Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.Cellular and molecular life sciences : CMLS · 2016Review
- Effect of MTHFR Gene Polymorphism Impact on Atherosclerosis via Genome-Wide Methylation.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- Disagreement between two common biomarkers of global DNA methylation.Clinical epigenetics · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic instability. It has been suggested that DNA hypomethylation might affect the structure and dynamics of chromatin regions that are critical for chromosome stability and segregation, thus favouring chromosomal nondisjunction during meiosis. Maternal global DNA hypomethylation has not yet been analyzed as a potential risk factor for chromosome 21 nondisjunction. This study aimed to asses the risk for DS in association with maternal global DNA methylation and the impact of endogenous and exogenous factors that reportedly influence DNA methylation status. Global DNA methylation was analyzed in peripheral blood lymphocytes by quantifying LINE-1 methylation using the MethyLight method. Levels of global DNA methylation were significantly lower among mothers of children with maternally derived trisomy 21 than among control mothers (P = 0.000). The combination of MTHFR C677T genotype and diet significantly influenced global DNA methylation (R2 = 4.5%, P = 0.046). The lowest values of global DNA methylation were observed in mothers with MTHFR 677 CT+TT genotype and low dietary folate. Although our findings revealed an association between maternal global DNA hypomethylation and trisomy 21 of maternal origin, further progress and final conclusions regarding the role of global DNA methylation and the occurrence of trisomy 21 are facing major challenges.
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