title: Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
abstract: BACKGROUND
  Congenital heart defects (CHDs) are the most common fetal defects and the most important cause of child mortality and morbidity.
  
  
  OBJECTIVE
  To investigate the association between growth/differentiation factor 1 (GDF1) polymorphisms and fetal CHDs, by evaluating the association of GDF1 rs4808863 with fetal CHDs.
  
  
  METHODS
  A case-control study.
  
  
  METHODS
  Beijing, China.
  
  
  METHODS
  We selected 124 fetuses with a CHD and a normal karyotype and normal array-based comparative genomic hybridisation analysis and compared them with 124 normal fetuses matched for gestational age and sex. Fetuses with a CHD, from 20 to 32 weeks of gestation were included. Fetuses with any chromosomal abnormalities, and fetuses from multiple pregnancies and those carried by pregnant women with chronic diseases, were excluded from this research. DNA extraction and genotyping were carried out for all cases to investigate the genotype distributions of GDF1 rs4808863.
  
  
  RESULTS
  A significant difference was noted for the CT phenotype of GDF1 rs4808863 between the controls and the fetuses with CHDs using homozygote and heterozygote comparisons. The minor allele (T allele) of GDF1 rs4808863 was associated with an increased risk of CHD (p<0.05). A statistically significant difference between controls and fetuses with CHDs was noted in a comparison with the mutation genotype CT+TT and wild-type genotype CC (p<0.05) using dominant modal analysis. After stratification analysis, the CT phenotype, the minor allele (T allele) and the mutation genotype CT+TT of the rs4808863 polymorphism were associated with atrioventricular septal defect (AVSD), left ventricular outflow tract obstruction (LVOTO) and left-right laterality defects (p<0.05).
  
  
  CONCLUSIONS
  Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Qingqing
authors.initials: Q
authors.lastname: Wu
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Yuqing
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Yao
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D005838:Genotype; D055452:Growth Differentiation Factor 1 / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
chemical_list: D055452:Growth Differentiation Factor 1