Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

ABSTRACT:

Purpose

The goal of this study was to identify the contribution of large copy-number variants to Down syndrome-associated atrioventricular septal defects, the risk for which in the trisomic population is 2,000-fold more as compared with that of the general disomic population.

Methods

Genome-wide copy-number variant analysis was performed on 452 individuals with Down syndrome (210 cases with complete atrioventricular septal defects; 242 controls with structurally normal hearts) using Affymetrix SNP 6.0 arrays, making this the largest heart study conducted to date on a trisomic background.

Results

Large, common copy-number variants with substantial effect sizes (OR > 2.0) do not account for the increased risk observed in Down syndrome-associated atrioventricular septal

SUBMITTER: Ramachandran D 

PROVIDER: S-EPMC4408203 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature