LnFXI_metaanalysis_summarydata
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ABSTRACT:
PROVIDER: EGAD00010001141 | EGA |
REPOSITORIES: EGA
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Project description:Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analyzed, and results are presented here.
| EGAS00001002123 | EGA
Project description:Meta-analysis of Genome-Wide-Association Sudies for plasma Factor XI
| PRJEB17692 | ENA
Project description:Regulation of Coagulation Factor XI expression by MicroRNAs in the Human Liver
| PRJNA260525 | ENA
Project description:Meta-analysis of Epigenome Wide Association Studies of Major Depressive Disorder
| PRJNA817272 | ENA
Project description:Meta-analysis of genome-wide association studies of bladder cancer risk
| PRJNA993798 | ENA
Project description:Meta-analysis of genome-wide association studies of bladder cancer risk
| PRJNA993799 | ENA
Project description:Background and Purpose The neurological course after stroke is highly variable and is determined by demographic, clinical, and genetic factors. However, other heritable factors such as epigenetic DNA methylation could play a role in neurological changes after stroke. Methods We performed a three-stage epigenome-wide association study (EWAS) to evaluate DNA methylation associated with the difference between the National Institutes of Health Stroke Scale (NIHSS) at baseline and at discharge (ΔNIHSS) in ischemic stroke patients. DNA methylation data in the Discovery (n = 643) and Replication (n = 62) Cohorts were interrogated with the 450K and EPIC BeadChip. Nominal CpG-sites from the Discovery (p-value < 10-06) were also evaluated in a meta-analysis of the Discovery and Replication cohorts, using a random-fixed effect model. Specific cell type methylation was assessed using EpiDISH. We integrated the methylation data with 1305 plasma protein expression levels measured by SOMAscan and measured RNA expression with RT-PCR in a subgroup of 13 subjects. Results The meta-analysis revealed an epigenome-wide significant association in EXOC4 (p-value = 8.4x10-08) and in MERTK (p-value = 1.56x10-07). Only the methylation in EXOC4 was also associated in the Discovery and in the Replication cohort (p-value = 1.14x10-06 and p-value = 1.3x10-02, respectively). EXOC4 methylation negatively correlated with the long-term outcome (coefficient = -5.89) and showed a tendency towards a decrease in EXOC4 expression (rho = -0.469, p-value = 0.091). Pathway enrichment from the meta-analysis revealed significant associations related with the exocytic process. Seventy-nine plasma proteins were differentially expressed in association with EXOC4 methylation. Pathway analysis of these proteins showed an enrichment in Natural Killer cell activation. Conclusions DNA methylation of EXOC4 is associated with a worse neurological course after stroke. Pathway analysis suggests that the exocytic pathway could be a potential biological mechanism underlying this association. Background and Purpose The neurological course after stroke is highly variable and is determined by demographic, clinical, and genetic factors. However, other heritable factors such as epigenetic DNA methylation could play a role in neurological changes after stroke. Methods We performed a three-stage epigenome-wide association study (EWAS) to evaluate DNA methylation associated with the difference between the National Institutes of Health Stroke Scale (NIHSS) at baseline and at discharge (ΔNIHSS) in ischemic stroke patients. DNA methylation data in the Discovery (n = 643) and Replication (n = 62) Cohorts were interrogated with the 450K and EPIC BeadChip. Nominal CpG-sites from the Discovery (p-value < 10-06) were also evaluated in a meta-analysis of the Discovery and Replication cohorts, using a random-fixed effect model. Specific cell type methylation was assessed using EpiDISH. We integrated the methylation data with 1305 plasma protein expression levels measured by SOMAscan and measured RNA expression with RT-PCR in a subgroup of 13 subjects. Results The meta-analysis revealed an epigenome-wide significant association in EXOC4 (p-value = 8.4x10-08) and in MERTK (p-value = 1.56x10-07). Only the methylation in EXOC4 was also associated in the Discovery and in the Replication cohort (p-value = 1.14x10-06 and p-value = 1.3x10-02, respectively). EXOC4 methylation negatively correlated with the long-term outcome (coefficient = -5.89) and showed a tendency towards a decrease in EXOC4 expression (rho = -0.469, p-value = 0.091). Pathway enrichment from the meta-analysis revealed significant associations related with the exocytic process. Seventy-nine plasma proteins were differentially expressed in association with EXOC4 methylation. Pathway analysis of these proteins showed an enrichment in Natural Killer cell activation. Conclusions DNA methylation of EXOC4 is associated with a worse neurological course after stroke. Pathway analysis suggests that the exocytic pathway could be a potential biological mechanism underlying this association.
2022-05-20 | GSE203399 | GEO
Project description:Liver dysfunction including coagulopathy is a prominent feature of proteinenergy malnutrition. To identify mechanisms underlying malnutrition-associated coagulopathy, we administered low-protein low-fat diet to lactating dams and examined hepatic transcription and plasma coagulation parameters in young adult weanlings. Malnutrition impairs growth and liver synthetic function more severely in males versus females. Malnourished males are coagulopathic and exhibit decreased hepatocyte peroxisomes, FXR agonist bile acids, FXR binding on Fga and F11 gene regulatory elements, and coagulation factor synthesis. These effects are absent in female mice, which have low baseline levels of PPARα, suggesting that nutrient-sensing nuclear receptors regulate coagulation factor synthesis in response to host nutritional status in a sex-specific manner.
2020-10-27 | GSE156856 | GEO
Project description:Clinical use of intraoperative auto-transfusion requires the removal of platelets and plasma proteins due to the pump-based suction and water-soluble anticoagulant administration, which causes dilutional coagulopathy. Herein, we develop a carboxylated and sulfonated heparin-mimetic polymer-modified sponge that could spontaneously adsorb blood (1.149 kg/m-2 s-1/2) along with instantaneous anticoagulation. We demonstrate that intrinsic coagulation factors (especially XI) are inactivated by adsorption to the sponge surface, while inactivation of thrombin in the sponge-treated plasma effectively inhibits the common coagulation pathway. Benefiting from the multiple inhibitory effects of sponge on coagulation enzymes and calcium depletion, the whole blood auto-transfusion in trauma-induced hemorrhage is unprecedentedly realized. The transfusion of collected blood favors faster recovery of hemostasis compared to traditional heparinized blood in an animal model. Our work not only develops a safe and convenient approach for whole blood auto-transfusion, but also provides the mechanism of action of self-anticoagulant heparin-mimetic polymer-modified surfaces.
2023-07-23 | PXD044005 | Pride
Project description:Deciphering the impact of genetic variation on gene regulation is fundamental to understanding common, complex human diseases. In this study, we obtained genome-wide RNA-Seq and ChIP-Seq (for H3K4me3 and H3K27ac histone modifications) data in the human liver. We mapped quantitative trait loci (QTLs) of gene expression levels and histone modification states. We integrated our findings with summary statistics of genome-wide association studies (GWAS) and identified candidate genes, gene regulatory regions, and variants in GWAS loci.
2019-06-13 | GSE128072 | GEO