title: Association between TGFB3 and nonsyndromic cleft lip with or without cleft palate in a Chilean population.
abstract: OBJECTIVE
  To assess the possible association between TGFB3 allele variants and nonsyndromic cleft lip with or without cleft palate in a Chilean population.
  
  
  METHODS
  In our study we used a case-parents trios design. The sample consisted of 150 unrelated trios ascertained through probands affected with nonsyndromic cleft lip with or without cleft palate. Three TGFB3 polymorphisms were analyzed (rs2268626, rs2268625, and rs3917201). An allele/haplotype transmission disequilibrium test was used to evaluate the possible genotype-phenotype association.
  
  
  RESULTS
  An overtransmission from parents to affected progeny was observed for the A allele of rs3917201 (p = .03) and for the rs2268625-rs3917201 A-A haplotype (p = .022). A defect of transmission of rs2268625-rs3917201 G-G haplotype (p = .022) was observed also.
  
  
  CONCLUSIONS
  Allelic and haplotypic associations implicate a possible role of TGFB3 in nonsyndromic cleft lip with or without cleft palate in the Chilean population. Additional studies are needed in order to elucidate the possible mechanisms that can explain the role of TGFB3 genetic variants in the condition.
authors.affiliation: Biomedical Sciences Institute, School of Medicine, University of Chile, Santiago, Chile.
authors.forename: José
authors.initials: J
authors.lastname: Suazo
authors.forename: José Luis
authors.initials: JL
authors.lastname: Santos
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Lilian
authors.initials: L
authors.lastname: Jara
authors.forename: Rafael
authors.initials: R
authors.lastname: Blanco
mesh_terms: D000225:Adenine; D000483:Alleles; D016022:Case-Control Studies; D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006147:Guanine; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D053782:Transforming Growth Factor beta3 / Q000235:genetics*
chemical_list: C509044:TGFB3 protein, human; D053782:Transforming Growth Factor beta3; D006147:Guanine; D000225:Adenine