In:
European Journal of Oral Sciences, Wiley, Vol. 117, No. 2 ( 2009-04), p. 200-203
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.
Type of Medium:
Online Resource
ISSN:
0909-8836
,
1600-0722
DOI:
10.1111/eos.2009.117.issue-2
DOI:
10.1111/j.1600-0722.2008.00604.x
Language:
English
Publisher:
Wiley
Publication Date:
2009
detail.hit.zdb_id:
2025657-7
Permalink