Affymetrix SNP 6.0 data for individuals with Trisomy 21 or Down syndrome

ABSTRACT: Individuals with Down syndrome (DS) are at an increased risk for developing congenital heart defects especially atrioventricular septal defects (AVSD). Our goal was to identify the contribution of copy number variants (CNV) to DS-associated AVSD. We used the Affymetrix SNP 6.0 genotyping platform to comprehensively characterize CNVs in 452 ethnically matched individuals with DS, comprising of 210 cases (DS + complete AVSD) and 242 controls with a structurally normal heart (DS + NH). Results from burden and region-wise analyses using PLINK revealed that despite the 2000 fold elevated risk, common CNVs of large effect (OR > 2.0) do not account for the increased risk observed in DS-associated AVSD. In contrast, cases do harbor a significantly elevated burden of large rare variants (> 100kb, <

ORGANISM(S): Homo sapiens

SUBMITTER: Michael Zwick 

PROVIDER: E-GEOD-60607 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress