ArticleIndian journal of human genetics2013
Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.
Article in Indian journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 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.
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Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.Journal of genetics · 2016Pooled it
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- 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
- Innumerable studies on single nucleotide polymorphisms: What could be its utility?Indian journal of human genetics · 2013Article
- 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe relationship between chromosomal non-disjunction leading to aneuploidy and folate metabolism has drawn attention in the recent years. In this study, we examined the polymorphism in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR), namely, 677 C-T in women having Down syndrome (DS) children. MATERIALS AND
methodsThe prevalence of these variant genotypes (MTHFR 677 C-T polymorphism) in women having DS children (case mothers) (n = 110) was compared with controls (n = 111) from Punjab. Genotyping was done using the polymerase chain reaction method followed by restriction fragment length polymorphism.
resultsIn the present study, 1.8% of case mothers had TT genotype while none of the control mothers showed this genotype. T allele frequency among cases was 0.13 and 0.11 in controls. The Chi-square value showed a non-significant difference between cases and controls.
conclusionNo association has been observed between 677 C-T polymorphism and risk of non-disjunction in case mothers. Detection of polymorphisms in more genes of folate pathway is required to find out the exact cause of non-disjunction.
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