Folate Metabolism Gene Polymorphisms and Risk for Down Syndrome Offspring in Turkish Women

Basit Öğe Kaydı
dc.contributor.authorAy, Özlem İzci
dc.contributor.authorAy, Mustafa Ertan
dc.contributor.authorErdal, Mehmet Emin
dc.contributor.authorÇayan, Filiz
dc.contributor.authorTekin, Sevinç
dc.contributor.authorSöylemez, Fatma
dc.contributor.authorYıldırım, Didem Derici
dc.date.accessioned2020-05-01T12:10:05Z
dc.date.available2020-05-01T12:10:05Z
dc.date.issued2015
dc.departmentDÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.descriptionErdal, 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;en_US
dc.descriptionWOS: 000352344400006en_US
dc.descriptionPubMed: 25671679en_US
dc.description.abstractAims: 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.en_US
dc.description.sponsorshipMersin University of Scientific FoundationMersin University [BAP-TF TTB 2009-2]en_US
dc.description.sponsorshipThis study was supported by the Mersin University of Scientific Foundation (BAP-TF TTB 2009-2). Ethics committee consent was obtained from the Local Ethics Committee of Mersin University. The authors thank all those who participated in the study, the IZEM Rehabilitation Center, particularly all the personnel at the IZEM and Metin Ugur Sarikaya Rehabilitation Center in Mersin.en_US
dc.identifier.doi10.1089/gtmb.2014.0262en_US
dc.identifier.endpage197en_US
dc.identifier.issn1945-0265
dc.identifier.issn1945-0257
dc.identifier.issue4en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage191en_US
dc.identifier.urihttps://doi.org/10.1089/gtmb.2014.0262
dc.identifier.urihttps://hdl.handle.net/20.500.12684/5988
dc.identifier.volume19en_US
dc.identifier.wosWOS:000352344400006en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherMary Ann Liebert, Incen_US
dc.relation.ispartofGenetic Testing And Molecular Biomarkersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleFolate Metabolism Gene Polymorphisms and Risk for Down Syndrome Offspring in Turkish Womenen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
5988.pdf
Boyut:
141.87 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu