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