The MTHFD1 Gene is not Involved in Cleft Lip with or Without Palate Onset Among the Italian Population

Authors

  • A. Palmieri,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • E. Masiero,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • M. Martinelli,

    Corresponding author
    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
      *Corresponding author: Marcella Martinelli, Ph.D., Department of Histology, Embryology and Applied Biology, University of Bologna Via Belmeloro 8, 40126 Bologna, Italy. Tel: +39.051.2094101. Fax: +39.051.2094110. E-mail: marcella.martinelli@unibo.it
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  • L. Scapoli,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • F. Pezzetti,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • E. Caramelli,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • L. Guidotti,

    1. Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
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  • F. Carinci

    1. Department of D.M.C.C.C., Section of Maxillo-Facial Surgery, University of Ferrara, Corso Giovecca 203, 44100 Ferrara, Italy
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*Corresponding author: Marcella Martinelli, Ph.D., Department of Histology, Embryology and Applied Biology, University of Bologna Via Belmeloro 8, 40126 Bologna, Italy. Tel: +39.051.2094101. Fax: +39.051.2094110. E-mail: marcella.martinelli@unibo.it

Summary

Nonsyndromic cleft lip with or without cleft palate (CL/P) is the most common orofacial malformation, having a non-Mendelian and multifactorial aetiology. It has been shown that polymorphic variants of genes encoding key proteins of folate and methionine metabolism might be important maternal risk factors for having a child with these craniofacial anomalies. The aim of this study was to evaluate the role of two polymorphisms of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene, the A1958G and the G401A variants, on the risk of CL/P in the Italian population.

A1958G and G401A polymorphism genotyping of MTHFD1 was performed on 216 CL/P triads, (patient and parents), for this study by restriction endonuclease digestion of PCR products. Linkage disequilibrium between markers and disease was tested using both pairwise and haplotype analyses. In our case-parents triad design no significant association between MTHFD1 and the disease is evident. Our data do not support MTHFD1 involvement in CL/P onset among the Italian population.

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