Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort

ABSTRACT:

Schizophrenia is characterized by high heritability (~80%), yet the identification of susceptibility genes has proven extremely challenging. The Ashkenazi Jewish population, derived from a limited number of founders, may be enriched for a subset of susceptibility alleles, which may also have higher odds ratios than those detected by previous studies. GWAS was conducted in a large Ashkenazi case-control cohort, derived from the Hebrew University Genetic Resource, using the Illumina HumanOmni1-Quad BeadChip.

PROVIDER: phs000448 | dbGaP |

SECONDARY ACCESSION(S): PRJNA81149PRJNA81147

REPOSITORIES: dbGaP

ACCESS DATA

Json Xml

Similar Datasets

Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort

Project description:<p>Schizophrenia is characterized by high heritability (~80%), yet the identification of susceptibility genes has proven extremely challenging. The Ashkenazi Jewish population, derived from a limited number of founders, may be enriched for a subset of susceptibility alleles, which may also have higher odds ratios than those detected by previous studies. GWAS was conducted in a large Ashkenazi case-control cohort, derived from the Hebrew University Genetic Resource, using the Illumina HumanOmni1-Quad BeadChip. </p>

| phs000448.v1.p1 | EGA

Genetics of Schizophrenia in a Ashkenazi Jewish Case-Control Cohort

Project description:Genetics of Schizophrenia in a Ashkenazi Jewish Case-Control Cohort

| PRJNA81147 | ENA

Large rare Deletions in Ashkenazi Jewish schizophrenia cases vs controls

Project description:Schizophrenia is a severe psychiatric illness that affects ~1% of the population and has a strong genetic underpinning. Recently, genome wide analysis of copy number variation (CNV) has implicated rare and de novo events as important in schizophrenia. Here we report a genome-wide analysis of 245 schizophrenia cases and 490 controls, all of Ashkenazi Jewish descent. Since many studies have found an excess burden of large, rare deletions in cases, we limited our analysis to deletions over 500 kb in size. We observed seven large, rare deletions in cases with 57% of these being de novo. We focused on one 836 kb de novo deletion at chromosome 3q29 that falls within a 1.3–1.6 Mb deletion previously identified in children with intellectual disability (ID) and autism, as increasing evidence suggests an overlap of specific rare CNVs between autism and schizophrenia. By combining our data with prior CNV studies of schizophrenia and analysis of the data of the Genetic Association Information Network (GAIN), we identified six 3q29 deletions among 7,545 schizophrenic subjects and one among 39,748 controls, resulting in a statistically significant association with schizophrenia (p = 0.02) and an odds ratio estimate of 17 (95% CI: 1.36–1198.4). Moreover, this 3q29 deletion region contains two linkage peaks from prior schizophrenia family studies, and the minimal deletion interval implicates 20 annotated genes, including PAK2 and DLG1, both paralogous to X-linked ID genes and now strong candidates for schizophrenia susceptibility. Copy Number alanysis was performed on 245 cases and 490 controls of Ashkenazi Jewish descent. Samples were analyzed for deletions greater than 500 kb, with 20 or more snps in the interval. Three algorithms were used for analysis, GADA, GLAD and BEAST. The reference was created by using all samples processed here as the reference.

2010-08-06 | E-GEOD-23201 | biostudies-arrayexpress

Large rare Deletions in Ashkenazi Jewish schizophrenia cases vs controls

2010-08-06 | GSE23201 | GEO

Population genetic structure of the Ashkenazi Jewish population

Project description:The Ashkenazi Jewish population has long been considered a genetic isolate and presumed to have the genetic signatures of founder effects and isolation. We genotyped a large cohort of Ashkenazi Jews and analyzed their genetic structure compared to other worldwide populations. We genotyped 471 normal control Ashkenazi Jewish individuals with the Affymetrix 6.0 array and analyzed their genetic structure relative to other Europe and worldwide populations. We measured heterozygosity, linkage disequilibrium, identity-by-descent and used extended haplotype tests of positive selection.

2010-08-16 | E-GEOD-23636 | biostudies-arrayexpress

Genotyping of paired samples of normal colon and colon adenocarcinoma to estimate copy-number alterations

Project description:22 pairs of normal colon\colon adenocarcinoma samples were genotyped using Illumina HumanOmni1-Quad BeadChip to estimate copy number alterations

2013-02-01 | GSE43933 | GEO

Population genetic structure of the Ashkenazi Jewish population

2010-08-16 | GSE23636 | GEO

Plasma microRNA ratios associated with breast cancer detection: results from a nested case-control study in an Italian population-based mammography screening cohort

Project description:Mammographic breast cancer screening is effective in reducing breast cancer mortality. Nevertheless, several limitations are known. The objective of this study was to identify circulating microRNAs (miRs) ratios associated with BC in women attending mammography screening. A nested case-control study was conducted within the ANDROMEDA cohort (women of age 46-67 attending BC screening in northern Italy), where pre-diagnostic plasma samples, information on life-styles and common BC risk factors were collected. Small RNA sequencing was carried out on plasma samples from 65 cases and 66 controls. miR-ratios associated with BC were selected by two-sample Wilcoxon test and lasso logistic regression. Subsequent assessment by RT-qPCR of the miRs contained in the selected miR-ratios was carried out as a platform validation. Penalized logistic regression was further applied to candidate miR-ratios alone, or in combination with non-molecular factors, to build a diagnostic model.

2023-07-26 | GSE210329 | GEO

Case Report: Molecular Profiling Facilitates the Diagnosis of a Challenging Case of Lung Cancer with Choriocarcinoma Features

Project description:Accurate diagnoses are crucial in determining the most effective treatment across different cancers. In challenging cases, morphology-based traditional pathology methods have important limitations, while molecular profiling can provide valuable information to guide clinical decisions. We present a 35-year female with lung cancer with choriocarcinoma features. Her disease involved the right lower lung, brain, and thoracic lymph nodes. The pathology from brain metastasis was reported as “metastatic choriocarcinoma” (a germ cell tumor) by local pathologists. She initiated carboplatin and etoposide, a regimen for choriocarcinoma. Subsequently, her case was assessed by pathologists from an academic cancer center, who gave the diagnosis of “adenocarcinoma with aberrant expression of β-hCG” and finally pathologists at our hospital, who gave the diagnosis of “poorly differentiated carcinoma with choriocarcinoma features”. Genomic profiling detected a KRAS G13R mutation and transcriptomics profiling was suggestive of lung origin. The patient was treated with carboplatin/paclitaxel/ipilimumab/nivolumab followed by consolidation radiation therapy. She had no evidence of progression to date, 13 months after the initial presentation. The molecular profiling could facilitate diagnosing of challenging cancer cases. In addition, chemoimmunotherapy and local consolidation radiation therapy may provide promising therapeutic options for patients with lung cancer exhibiting choriocarcinoma features.

2024-03-14 | GSE261551 | GEO

A selective gut bacterial bile salt hydrolase alters host metabolism

Project description:The human gut microbiota impacts host metabolism and has been implicated in the pathophysiology of obesity and metabolic syndromes. However, defining the roles of specific microbial activities and metabolites on host phenotypes has proven challenging due to the complexity of the microbiome-host ecosystem. Here, we identify strains from the abundant gut bacterial phylum Bacteroidetes that display selective bile salt hydrolase (BSH) activity. Using isogenic strains of wild-type and BSH-deleted Bacteroides thetaiotaomicron, we selectively modulated the levels of the bile acid tauro-b-muricholic acid in monocolonized gnotobiotic mice. B. thetaiotaomicron BSH mutant-colonized mice displayed altered metabolism, including reduced weight gain and respiratory exchange ratios, as well as transcriptional changes in metabolic, circadian rhythm, and immune pathways in the gut and liver. Our results demonstrate that metabolites generated by a single microbial gene and enzymatic activity can profoundly alter host metabolism and gene expression at local and organism-level scales.

2018-07-19 | GSE112571 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data