Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

The genetics of thinness compared to obesity

ABSTRACT: The variation in weight within a shared environment is largely attributable to genetic factors. Whilst many genes/loci confer susceptibility to obesity, little is known about the genetic architecture of thinness. In this study we performed a genome-wide association study of 1,622 persistently thin healthy individuals (STILTS), 1,985 severe childhood onset obesity cases (SCOOP) and 10,433 population based individuals (UKHLS) used as a common set of controls. All participants were genotyped on the Illumina Core Exome array, including 551,839 markers and imputed to the combined UK10K and 1000G (phase3) reference panel. We contrast the genetic architecture of thinness with that of severe early onset obesity and explore whether the genetic loci influencing thinness are the same as those influencing obesity pr whether there are important genetic differences between them. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing

PROVIDER: EGAS00001002624 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

SNP array in severe early-onset obesity

Project description:Obesity is considered a multifactorial disorder with high heritability (50-75%), probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including CNVs, have been defined, the genetic causes underlying the disease still remain largely unknown. We aimed to identify novel genetic and genomic abnormalities in a cohort of Spanish children with severe non-syndromic early-onset obesity (EOO). We obtained molecular karyotypes of 157 children with EOO. Large and rare CNVs were validated and segregated in the family. A higher burden of duplication-type CNVs was detected in EOO patients versus controls (OR=1.85, p-value=0.008).

2017-04-28 | E-MTAB-5680 | biostudies-arrayexpress

Determination of X chromosome skewing in mouse myeloid cells Exp A

Project description:The aim of this study is to investigate whether there is selection for myeloid cells in our mouse models based on X chromosome choice. The mice are heterozygous at each allele for 129 & Bl6 mouse strains. We are investigating whether granulocyte RNA of female aged mice show a skewing towards one strain or the other at polymorphic loci of the X chromosome. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2014-05-06 | E-ERAD-245 | biostudies-arrayexpress

SCOOP Affymetrix v6 - samples

Project description:SCOOP severe early-onset obesity cases

| EGAD00010000594 | EGA

Transcriptome analysis of skin tumours from a p53 KO model

Project description:Preliminary gene expression profiling of normal tail skin RNAs using Affymetrix Mouse Genome 1.1 ST arrays on 89 WT, 62 p53 HET, 62 p53 KO permitted the identification of the baseline genetic architecture of normal tissues. This approach also revealed the effect of p53 deletion on the rewiring of several gene networks that are involved in metabolic processes, immune responses, and multiple RNA processing pathways such as RNA splicing and translational control. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-09-03 | E-ERAD-387 | biostudies-arrayexpress

scoop-G-1

Project description:Human Core Exome Genotyping for 1456 severe early onset obesity cases (SCOOP)

| EGAD00010001623 | EGA

RNA-Seq of Plasmodium chabaudi AS erythrocytic stages

Project description:Recent advances in high throughput sequencing methodologies allow the opportunity to probe in depth the transcriptomes of organisms including important human pathogens. In this project, we are using Illumina sequencing technology to analyze the transcriptome (RNA-Seq) of experimentally accessible stages of the mouse malaria parasite, P. chabaudi AS. The aim is to analyse cir gene expression during Plasmodium chabaudi infection and determine whether host genetic background can influence cir expression. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/. Abstract: Transcriptome sequencing of blood stage P. chabaudi AS parasites grown under different host genetic backgrounds.

2011-11-03 | E-ERAD-25 | biostudies-arrayexpress

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population

Project description:Background & Aims: Most inflammatory bowel diseases (IBDs) are classic polygenic disorders represented by common alleles. However, multiple determinants of very early-onset IBD characterized by a more extensive disease course remain largely unknown. The present study aimed to define the genetic architecture of pediatric and adult-onset IBDs in the Polish population. Results: Of 82 SNPs validated/replicated for association with IBD, a novel BRD2 (rs1049526) association was found in both pediatric (OR= 2.35) and adult (OR= 2.66) patients. Thirty SNPs were shared between pediatric and adult patients; 22 and 30 were unique to adult-onset and pediatric-onset IBD, respectively. WES identified numerous rare/infrequent, potentially deleterious variants in IBD-associated or innate immunity-associated genes. Both groups of variants were over-represented in affected children. Two highly deleterious homozygous variants, HLA-DRB1 c.565_566insC and NCF4 p.Arg8Trp, were found in two affected children, and WAS p.Glu131Lys was found in one child and one adult patient. Conclusions: Our GWAS revealed differences in the polygenic architecture of pediatric- and adult-onset IBD. A significant accumulation of rare/low frequency deleterious variants in affected children suggests a contribution by yet unexplained genetic components.

2017-01-01 | GSE79094 | GEO

ATAC-seq in 24 GBR lymphoblastoid cell lines

Project description:Although genome-wide association study is an important tool for linking genetic variation to common complex diseases, it remains difficult to identify the causal variants underlying susceptibility loci. Recent work demonstrated mapping chromatin accessibility across different individuals can be a powerful method for interpreting genetic variant function, existing assays to measure chromatin landscapes (e.g., DNaseI-seq) are labor intensive and require very large numbers of cells preventing their application in real-world settings. This project aims to assess the ability of a novel assay for chromatin accessibility, ATAC-seq, to detect chromatin structure variation among individuals. We will apply ATAC-seq in 24 GBR HapMap lymphoblastoid cell lines (LCLs), which are a model system for studying the function of human genetic variation. We will also employ a novel approach to molecular quantitative trait locus identification which utilizes both population quantitative trait locus and allele-specific signatures, and gives increased mapping power in small sample sizes.This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-07-28 | E-ERAD-418 | biostudies-arrayexpress

Project description:genetic analysis of the patients with early-onset severe preeclampsia

| PRJEB36886 | ENA

Transcription Start Site data from mixed asexual blood stages of P falciparum strain 3D7

Project description:In eukaryotes, the chromatin architecture has a pivotal role in regulating all DNA-related processes. For P. falciparum, the causative agent of human malaria, the nucleosome landscape of the extremely AT-rich intergenic regulatory regions is largely unexplored. With the aid of a highly-controlled MNase-Seq procedure we reveal how positioning of nucleosomes provides a structural and regulatory framework to the transcriptional unit. We observe strong positioning of nucleosomes around splice sites that could aid co-transcriptional splicing events. In addition, nucleosome depleted regions are apparent hallmarks of transcription start sites (TSS) and might support preinitiation complex assembly. Moreover, we reveal nucleosome occupancy dynamics on strong TSSs during intraerythrocytic development, which anti-correlate with gene expression changes and we observe a characteristic nucleosome architecture of functional - but not inert - TGCATGCA DNA motifs. Collectively, these findings highlight the regulatory capacity of the nucleosome landscape of this deadly human pathogen. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-04-20 | E-ERAD-383 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

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