title: [Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate].
abstract: OBJECTIVE
  To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese population.
  
  
  METHODS
  The polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) technique was used to detect a single nucleotide polymorphism (SNP), rs1801131, at the methylenetetrahydrofolate reductase (MTHFR) gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis.
  
  
  RESULTS
  The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate (CL/P) and controls. There was significant difference of cleft palate only (CPO) and the healthy individuals (χ(2) = 4.256, P = 0.039). The frequency of AC + CC genotype was higher in control group than that in CPO group (OR = 0.8, 95%CI = 0.381 - 1.683), 26 among 100 healthy individuals carried AC + CC genetypes, which were carried by 22% of CPO patients.
  
  
  CONCLUSIONS
  The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.
authors: Department of Stomatology, The First People's Hospital of Jinzhong Shanxi, Jinzhong Shanxi, China.
authors: Ying
authors: Y
authors: Hu
authors: Wei
authors: W
authors: Hou
authors: Er-jun
authors: EJ
authors: Chen
authors: Xin-hua
authors: XH
authors: Liu
authors: Chun-lin
authors: CL
authors: Hou
authors: Xin-hua
authors: XH
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)