title: Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate.
abstract: BACKGROUND
  The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation.
  
  
  OBJECTIVE
  To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses.
  
  
  METHODS
  A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP.
  
  
  RESULTS
  Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41).
  
  
  CONCLUSIONS
  This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.
authors.affiliation: Department of Pediatric Dentistry, KVG Dental College, Mangalore, Karnataka, India.
authors.forename: Sathyaprasad
authors.initials: S
authors.lastname: Savitha
authors.affiliation: Department of Oral and Maxillofacial Surgery, AB Shetty Dental College, Mangalore, Karnataka, India.
authors.forename: S M
authors.initials: SM
authors.lastname: Sharma
authors.affiliation: Department of Microbiology, KSHEMA, Mangalore, Karnataka, India.
authors.forename: Shetty
authors.initials: S
authors.lastname: Veena
authors.affiliation: Department of Community Medicine, KVG Medical College, Sullia, D.K, Karnataka, India.
authors.forename: R
authors.initials: R
authors.lastname: Rekha
keywords: Aetiology of non-syndromic cleft lip and palate; bone morphogenetic protein 4 gene; bone morphogenetic protein gene