title: Analysis of RTN4 3'UTR insertion/deletion polymorphisms in ventricular septal defect in a Chinese Han population.
abstract: Congenital heart disease is the most common type of birth defect and the leading cause of infant mortality in the first year of life. Ventricular septal defect (VSD) is one of the most general congenital heart defects and is a defect in the wall between the right and left ventricles of the heart. The pathogenesis of VSD has been extensively investigated for many years, but it remains uncertain. To determine whether reticulon 4 gene (RTN4) 3'UTR insertion/deletion polymorphisms are associated with VSD, we genotyped the TATC and CAA insertion/deletion polymorphisms of RTN4 by polymerase chain reaction-polyacrylamide gel electrophoresis in 151 VSD patients and 308 unrelated healthy subjects in a Chinese Han population. No significant differences in 3'UTR TATC and CAA insertion/deletion polymorphisms genotype and allele frequencies were observed between the VSD and controls. These data indicate that, for the first time, RTN4 3'UTR insertion/deletion polymorphisms may not appear to play a role in the susceptibility of VSD in Chinese Han population.
authors.affiliation: Department of Cardiology, West China Hospital of Sichuan University, Chengdu, PR China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Yanyun
authors.initials: Y
authors.lastname: Wang
authors.forename: Li
authors.initials: L
authors.lastname: Rao
mesh_terms: D020413:3' Untranslated Regions; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D000070798:Nogo Proteins; D011110:Polymorphism, Genetic
chemical_list: D020413:3' Untranslated Regions; D017931:DNA Primers; D009185:Myelin Proteins; D000070798:Nogo Proteins; C000603199:RTN4 protein, human