Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
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.
Reutter
Heiko
H
Institute of Human Genetics, University of Bonn, Bonn, Germany. reutter@uni-bonn.de
Birnbaum
Stefanie
S
Lacava
Amalia Diaz
AD
Mende
Meinhard
M
Henschke
Henning
H
Bergé
Stefaan
S
Braumann
Bert
B
Lauster
Carola
C
Schiefke
Franziska
F
Wenghoefer
Matthias
M
Saffar
Mitra
M
Reich
Rudolf
R
Scheer
Martin
M
Kramer
Franz-Josef
FJ
Knapp
Michael
M
Mangold
Elisabeth
E
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
D042965:Methylenetetrahydrofolate Reductase (NADPH2)