title: [Effects of methionine synthase gene variation in parents on occurence of congenital heart disease in offspring].
abstract: OBJECTIVE
  To investigate the relations of methionine synthase (MS) gene variation in parents with congenital heart disease (CHD) phenotype in offspring.
  
  
  METHODS
  We selected 192 CHD patients (93 males and 99 females) and their biological parents (nuclear families) in Liaoning Province as case group, and 104 normal people (60 males and 44 females) and their parents without family history of birth defects as control group. For all subjects the MS gene A2756G locus polymorphism was examined by PCR-RFLP method. The data were analyzed to compare the difference of gene variation between the case parents and controls, and to assess the genetic disequilibrium in the CHD nuclear families.
  
  
  RESULTS
  The MS genotype distribution and allele frequencies of the case mothers were not different significantly from those of the control group (P>0.05). The frequency of allele (+) in the case fathers (5.0%) was lower than that of the control (9.1%, P=0.060). The odds ratio (OR) was 0.53 (95% CI: 0.25-1.09). There was no difference in parents' genotype combination between the two groups. The analysis of allele transmission indicated that mutation allele (+) transmission disequilibrium existed in CHD nuclear families. The percentage of allele (+) transmitted from the parents was lower than (-) with being OR 0.26 (95% CI: 0.11-0.60).
  
  
  CONCLUSIONS
  The study shows that the MS gene variation at A2756G locus in parents is associated with occurrence of CHD in offspring, and the mutation allele (+) in parents might be related with the decrease of CHD risk in offspring.
authors.affiliation: Department of Nutrition and Food Hygiene, Peking University School of Public Health, Beijing 100083, China. zhuwenli@tom.com
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Zhu
authors.forename: Jing-jing
authors.initials: JJ
authors.lastname: Dao
authors.forename: Jun
authors.initials: J
authors.lastname: Cheng
authors.forename: Ru-bing
authors.initials: RB
authors.lastname: Zhao
authors.forename: Li-ying
authors.initials: LY
authors.lastname: Yan
authors.forename: Shu-qin
authors.initials: SQ
authors.lastname: Li
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000483:Alleles; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase