ANALYSIS OF FACTOR V AND MTHFR GENES AS RISK FACTORS CONSTITUTING SUSCEPTIBILITY TO NEURAL TUBE DEFECTS: A CASE-CONTROL STUDY FROM TURKEY

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dc.contributor.authorKamasak, Kagan
dc.contributor.authorYeğin, Zeynep
dc.contributor.authorYıldırım, İbrahim Halil
dc.date.accessioned2025-03-23T19:10:01Z
dc.date.available2025-03-23T19:10:01Z
dc.date.issued2020
dc.departmentSinop Üniversitesi
dc.description.abstractObjective: This study targeted to bring a molecular perspective to occult neural tube defects and thus develop future preventive personalized medicine strategies. The roles of three genetic variations namely Factor V Leiden (FVL) (rs6025), MTHFR A1298C (rs1801131), and MTHFR C677T (rs1801133) were investigated in a Turkish cohort including both the mothers and children to better analyze the potential inherited effects of these variations. Material and Methods: Children affected with neural tube defects (NTDs) and control children without NTDs were included in the study together with their mothers. DNA extractions were performed from collected blood samples with standard salting-out procedure. Isolated DNAs were genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Results: In terms of Factor V Leiden (FVL) (rs6025) in NTD risk, there was no statistically important association between mothers with NTDs-affected children and control group mothers (p=0.639). However, a statistically significant association was observed when NTDs-affected children were compared with the ones not affected (p=0.0144). There was a statistically important association of MTHFR A1298C (rs1801131) both in mothers comparisons and comparison between NTDs-affected children and not-affected children (respectively, p=0.005; 0.008). MTHFR C677T (rs1801133) genotypes and/or alleles did not act as risk factors for NTD development neither in mothers nor in children in this study (p˃0.05). Conclusion: Our study indicates FVL mutation as an increased risk factor for NTD development, independently from the genotypes of mothers. MTHFR A1298C (rs1801131) homozygous AA genotype and A allele elevated the risk of NTD development both in mothers and children referring to the inherited role of this variation in Turkish population. However, MTHFR C677T (rs1801133) variation can not be considered as a risk factor in NTD development in our population.
dc.identifier.doi10.24938/kutfd.676442
dc.identifier.endpage112
dc.identifier.issn2148-9645
dc.identifier.issue1
dc.identifier.startpage105
dc.identifier.trdizinid377927
dc.identifier.urihttps://doi.org/10.24938/kutfd.676442
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/377927
dc.identifier.urihttps://hdl.handle.net/11486/3527
dc.identifier.volume22
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofKırıkkale Üniversitesi Tıp Fakültesi Dergisi
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_TR_20250323
dc.subjectGenel ve Dahili Tıp
dc.subjectPatoloji
dc.subjectGenetik ve Kalıtım
dc.subjectPediatri
dc.titleANALYSIS OF FACTOR V AND MTHFR GENES AS RISK FACTORS CONSTITUTING SUSCEPTIBILITY TO NEURAL TUBE DEFECTS: A CASE-CONTROL STUDY FROM TURKEY
dc.typeArticle

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