ArticleIntractable & rare diseases research2017
MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.
Article in Intractable & rare diseases research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Red blood cell folate and depression risk in U.S. women: A dose-response analysis from a nationwide cross-sectional study (2009-2018).Medicine · 2026Article
- Increased methylation levels of theEpigenomics · 2025Article
- Epigenetic Mechanisms in Heart Diseases.Reviews in cardiovascular medicine · 2025Review
- Clinical Profile of Indian Children with Down Syndrome.Journal of pediatric genetics · 2023Article
- Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.Genes · 2023Article
- Article
- Maternal Folic Acid Intake and Methylation Status of Genes Associated with Ventricular Septal Defects in Children: Case-Control Study.Nutrients · 2021Article
- Mending a broken heart:Disease models & mechanisms · 2021Review
- Review
- Epigenetics of Male Infertility: The Role of DNA Methylation.Frontiers in cell and developmental biology · 2021Review
- Congenital heart defects among Down's syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling.Journal of genetics · 2021Review
- Association of Polymorphisms in Genes Involved in One-Carbon Metabolism withInternational journal of molecular sciences · 2019Article
- Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases. The aim of this study is to compare the levels of MTHFR promoter methylation in all three study groups. A total of 120 subjects were recruited for the study and was divided into the following three groups: Group I (mothers of DS without Congenital Heart Defects (CHD),
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