RGD Reference Report - Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. - Rat Genome Database

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Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.

Authors: Izci Ay, Ozlem  Ay, Mustafa Ertan  Erdal, Mehmet Emin  Cayan, Filiz  Tekin, Sevinc  Soylemez, Fatma  Sungur, Mehmet Ali  Derici Yildirim, Didem 
Citation: Izci Ay O, etal., Genet Test Mol Biomarkers. 2015 Apr;19(4):191-7. doi: 10.1089/gtmb.2014.0262. Epub 2015 Feb 11.
RGD ID: 12910959
Pubmed: PMID:25671679   (View Abstract at PubMed)
DOI: DOI:10.1089/gtmb.2014.0262   (Journal Full-text)


AIMS: Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring, but data are conflicting. Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS (DS mothers); these samples were taken from 47 Turkish mothers having DS children (case group) and 49 control mothers. Investigated polymorphisms include methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), A1298C (rs1801131), methionine synthase reductase (MTRR) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A (rs2236225), reduced folate carrier (RFC1) A80G (rs1051266), and cystathionine ß-synthase (CBS) 844ins68.
RESULTS: The frequency of the MTHFR 677C allele in DS mothers (79.8%) was significantly higher than in controls (66.3%), with a 0.499-fold increased risk of having a DS offspring (p=0.038 and 95% confidence interval [CI], 0.259-0.961). Mothers with the MTHFD1 1958A allele had a 1.880-fold increased risk of having a child with DS (p=0.031 and 95% CI, 1.060-3.335). No significant association was found for the other polymorphic variants in this study. Gene-gene interactions were not statistically significant.
CONCLUSION: Polymorphic variants of the enzymes involved in folate metabolism may play an important role in determining the susceptibility of having a DS offspring. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in future studies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Down syndrome susceptibilityIAGP 12910959DNA:SNP:cds:1958 G>A (rs2236225)(human)RGD 
Down syndrome susceptibilityISOMTHFD1 (Homo sapiens)12910959; 12910959DNA:SNP:cds:1958 G>A (rs2236225)(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mthfd1  (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)

Genes (Mus musculus)
Mthfd1  (methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase)

Genes (Homo sapiens)
MTHFD1  (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)


Additional Information