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Further evidence for the involvement of MYH9 in the etiology of non‐syndromic cleft lip with or without cleft palate
Author(s) -
Birnbaum Stefanie,
Reutter Heiko,
Mende Meinhard,
De Assis Nilma A.,
DiazLacava Amalia,
Herms Stefan,
Scheer Martin,
Lauster Carola,
Braumann Bert,
Schmidt Gül,
Martini Markus,
Hemprich Alexander,
Pötzsch Simone,
Knapp Michael,
Nöthen Markus M.,
Kramer FranzJosef,
Mangold Elisabeth
Publication year - 2009
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/j.1600-0722.2008.00604.x
Subject(s) - etiology , single nucleotide polymorphism , craniofacial , haplotype , medicine , genetics , genetic association , candidate gene , snp , gene , pathology , biology , allele , genotype
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.