title: Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families.
abstract: OBJECTIVE
  To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD).
  
  
  METHODS
  One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method.
  
  
  RESULTS
  The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58.4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67.9% in patients and 55.7% in controls. CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families.
  
  
  CONCLUSIONS
  CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.
authors.affiliation: Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Developmental Molecular Biology, Peking University, Beijing 100083, China. bmuxiaoming@hotmail.com
authors.forename: Xiao-Ming
authors.initials: XM
authors.lastname: Song
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Zheng
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Zhu
authors.forename: Lei
authors.initials: L
authors.lastname: Huang
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D008297:Male; D009679:Nuclear Family; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D003541:Cystathionine beta-Synthase