title: [Association between parental MTHFR gene polymorphism 677C/T and nonsyndromic cleft lip and palate in offspring].
abstract: OBJECTIVE
  To explore the association between parental genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) 677C/T and occurrence of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in offspring in Shandong Province.
  
  
  METHODS
  MTHFR genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Parents of 89 NSCL/P patients treated at Qilu Hospital from August, 2006 to August, 2008 and those of 64 healthy children were recruited in this case-control study.
  
  
  RESULTS
  Frequencies of T and C alleles in mothers of patients and healthy children were 65.73% and 46.09%, and 34.27% and 53.91%, respectively (Chi-square=13.663, P<0.01). Offspring whose mothers had T alleles were 2.243 times more likely to develop NSCL/P (95%CI: 1.408-3.572). Frequencies of T and C alleles in fathers of patients and healthy children were 62.92% and 55.47%, and 37.08% and 44.53%, respectively (Chi-square=2.222, P>0.05). The chance for parents of the patient and control groups to bear an affected fetus carrying homozygous mutations were 43% and 29%, respectively (P>0.05).
  
  
  CONCLUSIONS
  In Shandong Province, maternal genotype for the MTHFR 677C/T polymorphism has a significant impact on the occurrence of NSCL/P in their offspring, whilst paternal genotype for this polymorphism may not be a risk factor for NSCL/P in their offspring.
authors.affiliation: Shandong Provincial Research Institute of Family Planning Science and Technology, Jinan, Shandong, People's Republic of China. sumeiw@163.com
authors.forename: Su-mei
authors.initials: SM
authors.lastname: Wang
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Wang
authors.forename: Jian-chun
authors.initials: JC
authors.lastname: Yu
authors.forename: Bin
authors.initials: B
authors.lastname: Wei
authors.forename: Ke-hua
authors.initials: KH
authors.lastname: Wang
authors.forename: Jin-yun
authors.initials: JY
authors.lastname: Liu
authors.forename: Yun-ling
authors.initials: YL
authors.lastname: Dong
authors.forename: Xue-mei
authors.initials: XM
authors.lastname: Lv
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)