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Genomic exploration of monozygotic twins discordant (MZD) for schizophrenia uncovers de novo mutations (DNM) and reveals candidate genes

ABSTRACT: We examined six pairs of monozygotic twins discordant (MZD) for schizophrenia and identified copy number variation (CNV) and single nucleotide polymorphism (SNP) differences between affected and unaffected co-twins using the Affymetrix Genome Wide SNP 6.0.

ORGANISM(S): Homo sapiens

PROVIDER: GSE33598 | GEO | 2011/11/11

SECONDARY ACCESSION(S): PRJNA148543

REPOSITORIES: GEO

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Genomic exploration of monozygotic twins discordant (MZD) for schizophrenia uncovers de novo mutations (DNM) and reveals candidate genes

Project description:We examined six pairs of monozygotic twins discordant (MZD) for schizophrenia and identified copy number variation (CNV) and single nucleotide polymorphism (SNP) differences between affected and unaffected co-twins using the Affymetrix Genome Wide SNP 6.0. Affymetrix SNP arrays were performed according to the manufacurer's protocol on DNA extracted from whole blood CNV analysis was done using Affymetrix Genotyping Console 4.0 and Partek Genotyping Suite

2011-11-11 | E-GEOD-33598 | biostudies-arrayexpress

Phenotypically concordant and discordant monozygotic twins display different DNA copy number variation profiles (SNP)

Project description:The exploration of copy number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic make-up between twins derived from the same zygote represent an extreme example of somatic variation. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype using two platforms for genome-wide CNV analyses and show that CNVs exist within pairs in both groups. These findings impact our views of genotypic and phenotypic diversity in monozygotic twins, and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool in identifying disease predisposition loci. Our results also imply that caution should be exercised with the interpretation of disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics Analysis of copy number variability in concordant healthy monozygotic twin pairs as well as three monozygostic twin pairs discordant a Parkinsons disease (PD) phenotype using the Illumina HumanHap 300 dead chips. Keywords: SNP data

2007-12-11 | GSE9608 | GEO

Analysis of genome-wide methylation of phenotypically discordant monozygotic twins

2012-10-20 | GSE33477 | GEO

Phenotypically concordant and discordant monozygotic twins display different DNA copy number variation profiles (BAC)

Project description:The exploration of copy number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic make-up between twins derived from the same zygote represent an extreme example of somatic variation. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype using two platforms for genome-wide CNV analyses and show that CNVs exist within pairs in both groups. These findings impact our views of genotypic and phenotypic diversity in monozygotic twins, and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool in identifying disease predisposition loci. Our results also imply that caution should be exercised with the interpretation of disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics Keywords: copy number variation, concordant and discordant monozygotic twins

2007-12-11 | GSE9559 | GEO

PLASMA PROTEOMIC ANALYSIS OF RARE BMI-DISCORDANT MONOZYGOTIC TWIN PAIRS

Project description:The aim of the current study is to establish the effect of excess body wiehgt and liver fat on plasma proteomic profile without interference from genetic variation. Label-free proteomics (HDMSE) was performed on plasma samples of young healthy monozygotic twins who were discordant for BMI. the twins were further subdivided into groups of liver fat discordant and liver fat concordant to see the efefct fo liver fat on plasma proteomic signature.

2019-02-01 | PXD010691 | Pride

Methylomic Analysis reveals Epigenetic Pattern of SH2B1 in Chinese Monozygotic Twins Discordant for Autism Spectrum Disorder [Bisulfite-seq]

Project description:Autism spectrum disorder(ASD) is a complex neurodevelopmental disorder. Aberrant DNA methylation has been observed in ASD but the mechanisms remain largely unknown. Here, we employed discordant monozygotic twins to investigate the contribution of DNA methylation to ASD etiology. Genome-wide DNA methylation analysis was performed using samples obtained from five pairs of ASD-discordant monozygotic twins, which revealed a total of 2397 differentially methylated genes. Further, such gene list was annotated with Kyoto Encyclopedia of Genes and Genomes and demonstrated predominant activation of neurotrophin signaling pathway in ASD-discordant monozygotic twins. The methylation of SH2B1 gene was further confirmed in the ASD-discordant, ASD-concordant monozygotic twins, and a set of 30 pairs of sporadic case-control by bisulfite-pyrosequencing. The results showed that there was a greater DNA methylation difference in ASD-discordant monozygotic twins than ASD-concordant monozygotic twins. Further, verification of the Chr.16:28856743 of SH2B1 showed significant differences in DNA methylation between case and control. These results suggest abnormal methylation of SH2B1 is associated with ASD etiology. Our data suggest that it might be worthwhile to further explore the functions of SH2B1 and related genes of neurotrophin signaling pathway in ASD.

2018-12-31 | GSE108812 | GEO

Methylomic Analysis reveals Epigenetic Pattern of SH2B1 in Chinese Monozygotic Twins Discordant for Autism Spectrum Disorder [Methylation 450K]

2018-12-31 | GSE108785 | GEO

Phenotypically concordant and discordant monozygotic twins display different DNA copy number variation profiles (SNP)

2010-06-25 | E-GEOD-9608 | biostudies-arrayexpress

Analysis of genome-wide methylation of phenotypically discordant monozygotic twins

Project description:Human intelligence demonstrates one of the highest heritabilities among human quantitative traits. Phenotypically discordant monozygotic twins provide a way to identify loci reponsible for the phenotypical differences. We performed comprehensive DNA methylation analysis in monozygotic twins manifesting differences in IQ scores. Genes with significantly different methylation status are considered as candidates related to human intelligence. Methylation profiling was conducted using methylated DNA enriched fraction by MethylMiner. Subjects were compared with their co-twins by MAT software and bed files were generated. Significantly high methyalted regions with MAT score p value < 0.000001 in each twin pairs were extracted as candidates.

2012-10-20 | E-GEOD-33477 | biostudies-arrayexpress

Genome-Wide Analysis of DNA Methylation Differences in Muscle and Fat from Monozygotic Twins Discordant for Type 2 Diabetes

Project description:Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from twelve 53–80 year-old monozygotic discordant twin pairs.

2012-12-10 | GSE38291 | GEO

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