title: Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
abstract: OBJECTIVE
  The 677C-->T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism.
  
  
  METHODS
  We examined 181 patients with CL/P of central European descent and their parents for this variant.
  
  
  RESULTS
  The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C-->T polymorphism and nonsyndromic CL/P as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708).
  
  
  CONCLUSIONS
  Our data suggest that the MTHFR 677C-->T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany. reutter@uni-bonn.de
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Stefanie
authors.initials: S
authors.lastname: Birnbaum
authors.forename: Amalia Diaz
authors.initials: AD
authors.lastname: Lacava
authors.forename: Meinhard
authors.initials: M
authors.lastname: Mende
authors.forename: Henning
authors.initials: H
authors.lastname: Henschke
authors.forename: Stefaan
authors.initials: S
authors.lastname: Bergé
authors.forename: Bert
authors.initials: B
authors.lastname: Braumann
authors.forename: Carola
authors.initials: C
authors.lastname: Lauster
authors.forename: Franziska
authors.initials: F
authors.lastname: Schiefke
authors.forename: Matthias
authors.initials: M
authors.lastname: Wenghoefer
authors.forename: Mitra
authors.initials: M
authors.lastname: Saffar
authors.forename: Rudolf
authors.initials: R
authors.lastname: Reich
authors.forename: Martin
authors.initials: M
authors.lastname: Scheer
authors.forename: Franz-Josef
authors.initials: FJ
authors.lastname: Kramer
authors.forename: Michael
authors.initials: M
authors.lastname: Knapp
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005060:Europe; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)