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Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease)

ABSTRACT: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines. In this study, we want to identify genes and pathways specifically dysregulated in atrioventricular septal defect and /or atrial septal defect + ventricular septal defect in case of trisomy 21. Total RNA obtained from DS lymphoblastoid cell lines without congenital heart disease compared to cell lines from DS with congenital heart disease.

ORGANISM(S): Homo sapiens

SUBMITTER: Luce Dauphinot

PROVIDER: E-GEOD-34457 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease)

Project description:Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines. In this study, we want to identify genes and pathways specifically dysregulated in atrioventricular septal defect and /or atrial septal defect + ventricular septal defect in case of trisomy 21.

2012-08-15 | GSE34457 | GEO

Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines

Project description:This SuperSeries is composed of the following subset Series: GSE34457: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease) GSE34458: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (trisomy 21) Refer to individual Series

2012-08-14 | E-GEOD-34459 | biostudies-arrayexpress

Complete atrio-ventricular canal defects in mouse hearts lacking G-protein receptor kinases

Project description:Combined ablation of all 3 cardiac-expressed GRKs in the developing mouse heart impaired Hedgehog/Smoothened and GATA signaling, recapitulating heart abnormalities of human Complete Atrioventricular Septal Defect.

2017-09-30 | GSE87321 | GEO

Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases

Project description:The most common congenital heart disease (CHD) is the ventricular septal defect (VSD), which is also a subfeature of Tetralogy of Fallot (TOF) representing the most common form of cyanotic CHD. The underlying causes for the majority of CHDs are still unclear and most probably consist of combinations of genetic, epigenetic and environmental factors. DNA methylation is the most widely studied epigenetic modification and several cardiac regulators have already been shown to be differentially methylated in CHD patients. Here, we present the first analysis of genome-wide DNA methylation data obtained from cardiac biopsies of TOF and VSD patients. We applied affinity-based enrichment of methylated DNA sequences with methyl-CpG-binding domain proteins followed by next-generation sequencing (MBD-Seq). MBD-seq on cardiac biopsies of patients with Tetralogy of Fallot and ventricular septal defect

2016-08-08 | E-GEOD-62629 | biostudies-arrayexpress

Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects

Project description:One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold. We tested 236 case individuals with DS+AVSD and 290 control individuals with DS and a normal heart using a custom microarray with dense probes tiled on chromosome 21 for array CGH. We found that neither an individual chromosome 21 CNV nor any individual gene intersected by a CNV was associated with AVSD in DS. Burden analyses revealed that African American controls had more bases covered by rare deletions than did African American cases. Inversely, we found that Caucasian cases had more genes intersected by rare duplications than did Caucasian controls. Pathway analyses indicated copy number perturbtations of genes involved in protein heterotrimerization and histone methylating proteins. Finally, we showed that previously DS+AVSD-associated common CNVs on chromosome 21 are likely false positives. This research adds to the swell of evidence indicating that DS-associated AVSD is similarly heterogeneous, as is AVSD in the euploid population.

2017-01-30 | GSE93004 | GEO

NGS-based miRNome profile in cardiac muscle tissue of congenital heart disease patients

Project description:The goal of this study was to explore the miRNome profile in three frequently occurring Congenital Heart Disease (CHD) types, namely Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD) and Tetralogy of Fallot (TOF). For this purpose, we extracted total RNA from the cardiac tissues of patients with CHD and non-CHD, which was subjected to high-throughput sequencing technology to profile the miRNAs. The small RNA sequencing data was analyzed using the nf-core bioinformatic analysis pipeline. There were 40 up-regulated and 8 down-regulated miRNAs identified to be differentially expressed. These miRNAs are predicted to target several genes involved in regulatory pathways such as cell proliferation, differentiation, cell survival, etc. The results from this study are expected to expand the existing knowledge on molecular basis of CHD. Functional validation can throw insights on molecular epidemiology and therapy for heart diseases.

2022-10-02 | GSE185565 | GEO

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

Project description: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, < 1% frequency) (p < 0.01) and case deletions intersect genes more often than those observed in controls (p < 0.007). Gene enrichment analysis showed a trend for enrichment among deletions impacting the ciliome pathway in cases compared to controls. Our findings suggest that the etiology of AVSD is highly complex and does not arise from the action of a few common variants of large effect. Instead, our data support a multifactorial model, wherein large rare deletions play a significant role in elevating the risk of AVSD in a trisomic background. Copy Number Variation Analysis of individuals with DS using Affymetrix SNP 6.0 genotyping platform. A composite reference was generated using the same dataset to derive the log2 ratios using Affymetrix Power Tols (APT). Submitting here the preliminary data from 437 subjects, 15 were excluded due to privacy concerns.

2014-10-24 | E-GEOD-60607 | biostudies-arrayexpress

Exome sequencing of Congenital Heart Disease families from the Competence Network Berlin

Project description:This project aims to study exomes from families and trios with congenital heart disease (CHD). The samples have been collected under the Competence Network - Congenital Heart Defects in Berlin, Germany. The phenotypes are mainly left ventricular outflow obstruction (aortic stenosis, bicuspd aortic valve disease coarctation and hypoplastic left heart), but will also include samples with hypoplastic right heart and atrioventricular septal defects. We will perform whole exome sequencing using Agilent sequence capture and Illumina HiSeq sequencing.

| EGAS00001000368 | EGA

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

2014-10-24 | GSE60607 | GEO

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Project description:Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in 40% of cases. This case-control GWAS includes 187 DS with CHD as cases, and 151 DS without CHD as controls.

| EGAS00000000129 | EGA

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