title: MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.
abstract: OBJECTIVE
  The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case-control and case-parent trio samples.
  
  
  METHODS
  Samples of 165 cases and 291 controls and 121 case-parent trios (sharing the cases) were genotyped. Odds ratio (OR) was estimated for case-control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined OR was also computed. Maternal genotype effect was additionally evaluated based on a log-linear method.
  
  
  RESULTS
  Borderline but not significant OR (1.28; CI 0.97-1.69) was observed for risk allele (T) in the case-control sample. However, triad sample showed a significant association (OR 1.56: CI 1.09-2.25) which was confirmed by the combined OR (1.37; CI 1.11-1.71). Maternal genotype has been also associated with the phenotype (P = 0.002).
  
  
  CONCLUSIONS
  In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for MTHFR c.677C>T variant are strongly associated with NSCL/P in this Chilean population.
authors.affiliation: Instituto de Investigación en Ciencias Odontológicas, Facultad de Odontología, Universidad de Chile, Santiago, Chile.
authors.forename: C
authors.initials: C
authors.lastname: Ramírez-Chau
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: R
authors.initials: R
authors.lastname: Blanco
authors.affiliation: Programa de Anatomía y Biología del Desarrollo, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.|Servicio de Anatomía Patológica, Hospital Clínico de la Universidad de Chile, Santiago, Chile.
authors.forename: A
authors.initials: A
authors.lastname: Colombo
authors.affiliation: Sección de Genética, Hospital Clínico Universidad de Chile, Santiago, Chile.|Unidad de Neonatología, Hospital Clínico Universidad de Chile, Santiago, Chile.|Unidad de Genética, Hospital Dr. Sótero del Río, Santiago, Chile.
authors.forename: R
authors.initials: R
authors.lastname: Pardo
authors.affiliation: Instituto de Investigación en Ciencias Odontológicas, Facultad de Odontología, Universidad de Chile, Santiago, Chile. jsuazo@odontologia.uchile.cl.
authors.forename: J
authors.initials: J
authors.lastname: Suazo
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002677:Chile; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D012307:Risk Factors
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: MTHFR; Non-syndromic cleft lip with or without cleft palate; case-control; case-parent trios