Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe

Cleft Palate-Craniofacial Journal - Tập 45 Số 3 - Trang 267-271 - 2008
Heiko Reutter1, Stefanie Birnbaum1, Amalia Diaz Lacava2, Meinhard Mende2, Henning Henschke2, Stefaan J. Bergé3, Bert Braumann4, Carola Lauster5, Franziska Schiefke6, Matthias Wenghoefer7, Mitra Saffar4, Rudolf H. Reich7, Martin Scheer8, Franz‐Josef Kramer9, Michael Knapp2, Elisabeth Mangold1
1Institute of Human Genetics, University of Bonn, Bonn, Germany
2Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany
3Deparment of Maxillo-Facial Surgery, Radboud Universiteit Nijmegen, Nijmegen, The Netherlands.
4Department of Orthodontics, University of Cologne, Köln, Germany
5Department Maxillo-Facial Surgery, University of Berlin, Berlin, Germany.
6Department of Maxillo-Facial Surgery, University of Leipzig, Leipzig, Germany.
7Department of Maxillo-Facial Surgery, University of Bonn, Bonn, Germany.
8Department of Maxillo-Facial Surgery, University of Cologne, Köln, Germany.
9Department of Maxillo-Facial Surgery, University of Göttingen, Göttingen, Germany.

Tóm tắt

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. Patients/participants: 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). Conclusion: Our data suggest that the MTHFR 677C→T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.

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Cleft Palate-Craniofacial Journal

Tập 45 Số 3

267-271

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