title: Presenilin-1 polymorphisms are not relevant in susceptibility to ventricular septal defect: a case-control study.
abstract: Although many studies have demonstrated that presenilin-1 plays a vital role in cardiovascular system development, no data are available concerning association of polymorphisms of presenilin-1 with ventricular septal defect (VSD) in the Chinese population. The aim of this study was to evaluate the association between two single-nucleotide polymorphisms (rs1800844 and rs177415) of presenilin-1 and VSD. A total of 151 isolated VSD patients and 296 controls were included in the study. The genotype of the polymorphisms was determined by polymerase chain reaction-restriction fragment length polymorphism. Our study showed no statistically significant differences in genotype and allele frequencies between VSD and controls with any of the presenilin-1 genetic variants. These data may provide evidence that the presenilin-1 gene is not a genetic marker for VSD susceptibility in the Han Chinese 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: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Qing
authors.initials: Q
authors.lastname: Zheng
authors.forename: Li
authors.initials: L
authors.lastname: Rao
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D053764:Presenilin-1