BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese

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...

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Bibliographic Details
Published in:Medicina oral, patología oral y cirugía bucal patología oral y cirugía bucal, 2015-05, Vol.20 (3), p.e298-e304
Main Authors: Yu, Qiongqiong, He, Sha, Zeng, Ni, Ma, Jian, Zhang, Bihe, Shi, Bing, Jia, Zhonglin
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
Bone Morphogenetic Protein 7 - genetics
Brain - abnormalities
Cleft Lip - genetics
Cleft Palate - genetics
Dentistry
Female
Humans
Male
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Summary: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. 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. 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). 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.
ISSN:1698-6946
1698-4447
1698-6946
DOI:10.4317/medoral.20335