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Background: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7
(BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play
crucial roles in palate and other orofacial ectodermal appendages development in animal models.
Material and Methods: This study was designed to investigate the possible associations between
BMP7
gene
and the NSOCs (221 case-parent trios) in Western Han Chinese. Five tagSNPs at BMP7, rs12438, rs6099486,
rs6127973, rs230188 and rs6025469 were picked and tried to cover the entire gene. In order to identify the contribution of
BMP7
gene to the etiology of NSOCs, we performed several statistical analysis from different aspects
including transmission disequilibrium test (TDT), pairwise linkage disequilibrium (LD), parent-of-origin effect
and Chi-squared/Fisher’s exact tests.
Results: Rs6127973 G allele and G/G homozygotes were over-transmitted for both NSOCs (
P
=0.005 and
P
=0.011,
respectively) and NSCL/P (
P
=0.0061 and
P
=0.011, respectively), rs6127973 G allele was also paternally over-
transmitted for both NSOCs (
P
=0.0061) and NSCL/P (
P
=0.011).
Conclusions: This study suggested that rs6127973 may be a risk factor of being NSOCs and confirmed the role
of
BMP7
gene in orofacial deformity from Western Han Chinese, which will also supply scientific evidence for
future research and genetic counseling.
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