Folate Metabolism Gene Polymorphisms and Risk for Down Syndrome Offspring in Turkish Women
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Dosyalar
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Mary Ann Liebert, Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 beta-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.
Açıklama
Erdal, Mehmet Emin/0000-0002-6191-2930; Soylemez, Fatma/0000-0002-1939-8691; yildirim, didem derici/0000-0001-7709-6133; derici, didem/0000-0001-7709-6133; Ay, Mustafa Ertan/0000-0002-6152-7450;
WOS: 000352344400006
PubMed: 25671679
WOS: 000352344400006
PubMed: 25671679
Anahtar Kelimeler
Kaynak
Genetic Testing And Molecular Biomarkers
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
19
Sayı
4
