title: TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.
abstract: OBJECTIVE
  TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear.
  
  
  METHODS
  A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects. The genotype frequency of rs12190287 polymorphisms was determined by real-time polymerase chain reaction.
  
  
  RESULTS
  There were significant differences in the genotype and allele frequencies of rs12190287 between the cases and controls in a Chinese population. Allele G of rs12190287 was significantly associated with an increased risk of VSD in a Chinese population.
  
  
  CONCLUSIONS
  Our results demonstrate that rs12190287 polymorphisms confer predisposition to VSDs in the Chinese population studied here.
authors.affiliation: 1 Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University , Fuzhou, China .
authors.forename: Liping
authors.initials: L
authors.lastname: Yang
authors.affiliation: 2 Department of Genetics, National Research Institute for Family Planning , Beijing, China .
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Gao
authors.affiliation: 2 Department of Genetics, National Research Institute for Family Planning , Beijing, China .
authors.forename: Haiyan
authors.initials: H
authors.lastname: Luo
authors.affiliation: 1 Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University , Fuzhou, China .
authors.forename: Qiuyu
authors.initials: Q
authors.lastname: Huang
authors.affiliation: 2 Department of Genetics, National Research Institute for Family Planning , Beijing, China .
authors.forename: Dongmei
authors.initials: D
authors.lastname: Su
authors.affiliation: 3 CAS Key Laboratory of Genome Sciences and Information, Chinese Academy of Sciences, Beijing Institute of Genomics , Beijing, China .
authors.forename: Xinyu
authors.initials: X
authors.lastname: Tan
authors.affiliation: 2 Department of Genetics, National Research Institute for Family Planning , Beijing, China .|4 Graduat e School of Peking Union Medical College , Beijing, China .
authors.forename: Cailing
authors.initials: C
authors.lastname: Lu
mesh_terms: D020413:3' Untranslated Regions; D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D003324:Coronary Artery Disease / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; D051792:Basic Helix-Loop-Helix Proteins; C491825:TCF21 protein, human
keywords: TCF21; rs12190287; susceptibility; ventricular septal defect