Lack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study group

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dc.contributor.authorYildiz, S. H.
dc.contributor.authorErdogan, M. Ozdemir
dc.contributor.authorSolak, M.
dc.contributor.authorEser, O.
dc.contributor.authorTerzi, E. S. Arikan
dc.contributor.authorEser, B.
dc.contributor.authorKocabas, V.
dc.date.accessioned2020-03-26T19:24:55Z
dc.date.available2020-03-26T19:24:55Z
dc.date.issued2016
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractThe etiology underlying neural tube defects (NTDs) is not fully understood and is believed to involve a complex milieu of genetic and environmental factors. The A1298C polymorphism in the methylenetetrahydropholate reductase gene (MTHFR) has been associated with mild risk for NTDs. In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocysteine, vitamin B12, and folate were evaluated in 33 children with NTDs, their mothers, and 46 healthy controls. Genotyping of the A1298C polymorphism was performed by real-time polymerase chain reaction. The A and C allele frequencies in children with NTDs and their mothers were similar to controls (P = 0.160). The 1298AA and 1298CC genotype frequencies (P = 0.551 and 0.062, respectively) in children with NTDs and their mothers did not differ from controls. On the other hand, the 1298AC genotype frequencies in children with NTDs and their mothers were significantly different from controls (P = 0.025). The genotype frequency of 1298AC was lower in children with NTDs than in controls. There was no significant association between clinical distribution of NTDs and 1298AA/AC/CC genotypes (P > 0.05). Serum vitamin B12 levels were higher in children with NTDs than their mothers and controls (P = 0.001). There were no differences among serum homocysteine and folate levels in all groups (P = 0.494 and 0.141, respectively). Both genetic and nutritional factors are important in the etiology of NTDs. Thus, the A1298C polymorphism cannot be regarded as a major risk factor for NTDs.en_US
dc.description.sponsorshipKocatepe University Scientific Research CommitteeAfyon Kocatepe University [051.TIP.40]en_US
dc.description.sponsorshipResearch supported by the Kocatepe University Scientific Research Committee as project number 051.TIP.40. The authors also wish to thank Afyon Kocatepe University's Foreign Language Support Unit for language editing.en_US
dc.identifier.doi10.4238/gmr.15028051en_US
dc.identifier.issn1676-5680en_US
dc.identifier.issue2en_US
dc.identifier.pmid27323133en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://dx.doi.org/10.4238/gmr.15028051
dc.identifier.urihttps://hdl.handle.net/20.500.12395/33751
dc.identifier.volume15en_US
dc.identifier.wosWOS:000384881000005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFUNPEC-EDITORAen_US
dc.relation.ispartofGENETICS AND MOLECULAR RESEARCHen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectMTHFRen_US
dc.subjectA1298Cen_US
dc.subjectPolymorphismen_US
dc.subjectNeural tube defectsen_US
dc.titleLack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study groupen_US
dc.typeArticleen_US

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