title: Urinary tract anomalies associated with MTHFR gene polymorphism C677T in girls.
abstract: OBJECTIVE
  Periconceptional folate has a preventive effect not only on neural tube defects, but possibly also on other birth defects such as urinary tract anomalies (UTA), orofacial clefts and conotruncal heart defects. Folate metabolism gene variants are therefore being investigated as potential susceptibility factors.
  
  
  METHODS
  We assessed the methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C genotypes in 132 UTA patients and 290 controls, also with respect to sex.
  
  
  RESULTS
  We found a significantly higher incidence of the T allele/TT genotype of the C677T polymorphism in UTA patients compared with controls (p = 0.019/p = 0.044). In the individual sexes, the T allele frequency in UTA girls versus control girls was 42.6 versus 21.7%, p < 0.0001 (OR = 2.68; 95% CI: 1.63-4.40), and the frequency of TT genotypes was 19.2 versus 5.6%, p = 0.02 (OR = 4.0; 95% CI: 1.26-12.69); no difference was observed between the boys' groups.
  
  
  CONCLUSIONS
  The higher incidence of the C677T MTHFR gene polymorphism in girls with UTA could point to a developmental difference between the sexes that might be related to sexual dimorphism in methylation due to the lower activity of MTHFR in the system with the highest sexual dimorphism: the urogenital system. Naturally, this assumption should be further tested.
authors.affiliation: 1st Department of Pediatrics, School of Medicine and Children's University Hospital, University of P.J. Safarik, Kosice, Slovaki. jana.behunova@upjs.sk
authors.forename: Jana
authors.initials: J
authors.lastname: Behunova
authors.forename: Lucia
authors.initials: L
authors.lastname: Klimcakova
authors.forename: Ludmila
authors.initials: L
authors.lastname: Podracka
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012727:Sex Characteristics; D014551:Urinary Tract / Q000002:abnormalities*; D055815:Young Adult
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)