title: Methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects epidemiology in the Slovak population.
abstract: BACKGROUND
  Folate deficiency is a known factor contributing to the formation of neural tube defects (NTDs). Many folate metabolism gene variants have been investigated, but only a few substantial associations have been established, the C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene being one of the most significant.
  
  
  METHODS
  We determine the MTHFR C677T and A1298C genotypes in 93 Slovak NTD patients and 290 control newborns with respect to sex and ethnicity. Furthermore, we summarize current data on the incidence and types of NTDs in Slovakia.
  
  
  RESULTS
  The Slovak population frequencies of T allele and TT genotype of the C677T MTHFR gene polymorphism were 0.25 and 6.9%, respectively; similarly, those of the C allele and CC genotype of the A1298C polymorphism were 0.35 and 13.8%, respectively. No differences between the sexes and within ethnic groups were observed. In NTD patients, genotype analysis of the C677T polymorphism revealed 0.29 and 9.8% for T allele and TT genotype frequencies, respectively (p = 0.26; OR, 1.23; 95% CI, 0.84-1.81; resp. p = 0.36; OR, 1.46; 95% CI, 0.56-3.52) compared to the controls. The frequencies of C allele and CC genotype of A1298C polymorphism were 0.34 and 6.5%, respectively (p = 0.81; OR, 0.96; 95% CI, 0.66-1.38; resp. p = 0.06; OR, 0.44; 95% CI, 0.15-1.09). There were also no sex-related differences in genotypes distribution in NTD patients.
  
  
  CONCLUSIONS
  No significant associations between the C677T and A1298C MTHFR gene polymorphisms and NTDs and no differences between the two main ethnic groups (white-Caucasians, Roma) were found in Slovakia. The total incidence of NTDs in Slovakia is, according to the official sources, 0.53/1000, and the incidence among liveborn newborns is 0.28/1000.
authors.affiliation: I. Pediatric Department, University Children Hospital, PJ Safarik University School of Medicine, Kosice, Slovakia. barbjane1@yahoo.com
authors.forename: Jana
authors.initials: J
authors.lastname: Behunova
authors.forename: Lucia
authors.initials: L
authors.lastname: Klimcakova
authors.forename: Eva
authors.initials: E
authors.lastname: Zavadilikova
authors.forename: Dana
authors.initials: D
authors.lastname: Potocekova
authors.forename: Pavol
authors.initials: P
authors.lastname: Sykora
authors.forename: Ludmila
authors.initials: L
authors.lastname: Podracka
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009436:Neural Tube Defects / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D015995:Prevalence; D018154:Slovakia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)