Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate |
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| Authors: | Stefanie Birnbaum,Heiko Reutter,Meinhard Mende,Nilma A. de Assis,Amalia Diaz-Lacava,Stefan Herms,Martin Scheer,Carola Lauster,Bert Braumann,Gü l Schmidt,Markus Martini,Alexander Hemprich,Simone Pö tzsch,Michael Knapp,Markus M. Nö then,Franz-Josef Kramer,Elisabeth Mangold |
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| Affiliation: | Institute of Human Genetics, University of Bonn, Bonn;;Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn;;Department of Genomics, Life and Brain Center, University of Bonn, Bonn;;Department of Oral and Maxillo-Facial Surgery, University of Cologne, Köln;;Department of Cleft Lip and Cleft Palate Surgery, Humboldt University, Berlin;;Department of Orthodontics, University of Cologne, Köln;;Department of Oral and Maxillo-Facial-Plastic Surgery, University of Bonn, Bonn;;Department of Oral and Maxillo-Facial Surgery, University of Leipzig, Leipzig;;Monitoring of Congenital Malformations Saxony Anhalt, University of Magdeburg, Magdeburg;;Department of Oral and Maxillo-Facial Surgery, University of Göttingen, Göttingen, Germany |
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| Abstract: | Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. MYH9 , the gene coding for the heavy chain of non-muscle myosin II, has been considered as a good candidate gene in NSCL/P on the basis of its expression profile during craniofacial morphogenesis. Reports in an Italian sample, as well as in an ethnically mixed North American sample, of a positive association between single-nucleotide polymorphisms in the MYH9 gene and NSCL/P have provided further support for the role of MYH9 in the development of NSCL/P. In the present study, we aimed to replicate these findings by conducting a family-based association study with seven single nucleotide polymorphisms in MYH9 using a sample of 248 NSCL/P patients and their parents. Single marker analysis resulted in a highly significant association for rs7078. In haplotype analysis, the most significant result was obtained for the SNP combination (rs7078; rs2071731; rs739097; rs5995288). Our results thus confirm the potential involvement of MYH9 in the etiology of NSCL/P in our patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role. |
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| Keywords: | genotyping MYH9 non-syndromic cleft lip and palate transmission–disequilibrium test (TDT) |
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