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Updated: Jun 4, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Presenilin-1 polymorphisms are not relevant in susceptibility to ventricular septal defect: a case-control study
1Department of Cardiology, West China Hospital of Sichuan University, Chengdu, PR China.
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.
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