ArticleMolecular biology reports2012
Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.
Article in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
6 citing papers in PubMed, 18 citations in OpenAlex.
- Analysis of association between components of the folate metabolic pathway and autism spectrum disorder in eastern Indian subjects.Molecular biology reports · 2022Article
- One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome.Human cell · 2021Article
- Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.Molecular and clinical oncology · 2017Article
- Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.Cellular and molecular life sciences : CMLS · 2016Review
- 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
- DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.Genetic testing and molecular biomarkers · 2013Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent researches have investigated the factors that determine the maternal risk for Down syndrome (DS) in young woman. In this context, some studies have demonstrated the association between polymorphisms in genes involved on folate metabolism and the maternal risk for DS. These polymorphisms may result in abnormal folate metabolism and methyl deficiency, which is associated with aberrant chromosome segregation leading to trisomy 21. In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). The study group was composed by 105 mothers with DS children (case group) and 185 mothers who had no children with DS (control group). The genotype distribution did not show significant statistical difference between case and control mothers (P = 0.24) however a protective effect between genotypes CC (P = 0.0002) and CT (P < 0.0001) and maternal risk for DS was observed. Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. In conclusion, our data showed a protective role for the genotypes SHMT CC and CT on maternal risk for DS. The concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT.
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