title: BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese.
abstract: 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.
  
  
  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.
authors: State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, No.14, 3rd Section, Renmin Nan Road, Chengdu, China, 610041 zhonglinjia@sina.com.
authors: Qiongqiong
authors: Q
authors: Yu
authors: Sha
authors: S
authors: He
authors: Ni
authors: N
authors: Zeng
authors: Jian
authors: J
authors: Ma
authors: Bihe
authors: B
authors: Zhang
authors: Bing
authors: B
authors: Shi
authors: Zhonglin
authors: Z
authors: Jia
mesh_terms: D044466:Asian People / Q000235:genetics; D055419:Bone Morphogenetic Protein 7 / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male
chemical_list: C525819:BMP7 protein, human; D055419:Bone Morphogenetic Protein 7