title: Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.
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.
authors.affiliation: Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany. birnbaum@uni-bonn.de
authors.forename: Stefanie
authors.initials: S
authors.lastname: Birnbaum
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Meinhard
authors.initials: M
authors.lastname: Mende
authors.forename: Nilma A
authors.initials: NA
authors.lastname: de Assis
authors.forename: Amalia
authors.initials: A
authors.lastname: Diaz-Lacava
authors.forename: Stefan
authors.initials: S
authors.lastname: Herms
authors.forename: Martin
authors.initials: M
authors.lastname: Scheer
authors.forename: Carola
authors.initials: C
authors.lastname: Lauster
authors.forename: Bert
authors.initials: B
authors.lastname: Braumann
authors.forename: Gül
authors.initials: G
authors.lastname: Schmidt
authors.forename: Markus
authors.initials: M
authors.lastname: Martini
authors.forename: Alexander
authors.initials: A
authors.lastname: Hemprich
authors.forename: Simone
authors.initials: S
authors.lastname: Pötzsch
authors.forename: Michael
authors.initials: M
authors.lastname: Knapp
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Franz-Josef
authors.initials: FJ
authors.lastname: Kramer
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold