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UnknownManifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90.
Genetics play an important role in late-onset Alzheimer's Disease (AD) etiology and dozens of genetic variants have been implicated in AD risk through large-scale GWAS meta-analyses. However, the precise mechanistic effects of most of these variants have yet to be determined. Deeply phenotyped cohor...
S-EPMC9005657 | biostudies-literature
UnknownSARS-CoV-2 mRNA vaccines sensitize tumours to immune checkpoint blockade.
Immune checkpoint inhibitors (ICIs) extend survival in many patients with cancer but are ineffective in patients without pre-existing immunity1-9. Although personalized mRNA cancer vaccines sensitize tumours to ICIs by directing immune attacks against preselected antigens, personalized va...
S-EPMC12611756 | biostudies-literature
UnknownA comprehensive evaluation of the genetic architecture of sudden cardiac arrest.

Aims

Sudden cardiac arrest (SCA) accounts for 10% of adult mortality in Western populations. We aim to identify potential loci associated with SCA and to identify risk factors causally associated with SCA.

Methods and results

We carried out a large genome-wide association study (GWAS)...
S-EPMC6247663 | biostudies-literature
UnknownEffects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Importance

Because APOE locus variants contribute to risk of late-onset Alzheimer disease (LOAD) and to differences in age at onset (AAO), it is important to know whether other established LOAD risk loci also affect AAO in affected participants.

Objectives

To investigate the effects o...
S-EPMC4314944 | biostudies-literature
UnknownHeterogeneity within the PF-EPN-B ependymoma subgroup.
Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the ...
S-EPMC6373486 | biostudies-literature
UnknownRare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Fibrinogen, coagulation factor VII (FVII), and factor VIII (FVIII) and its carrier von Willebrand factor (vWF) play key roles in hemostasis. Previously identified common variants explain only a small fraction of the trait heritabilities, and additional variations may be explained by associations wit...
S-EPMC4566813 | biostudies-literature
UnknownAssociation of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.

Background

Fibrinogen is both central to blood coagulation and an acute-phase reactant. We aimed to identify common variants influencing circulation fibrinogen levels.

Methods and results

We conducted a genome-wide association analysis on 6 population-based studies, the Rotterdam Stud...
S-EPMC2764985 | biostudies-literature
UnknownA multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulator...
S-EPMC9388392 | biostudies-literature
UnknownDiscovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-a...
S-EPMC5419579 | biostudies-literature
UnknownMultiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.

Background

The burden of cerebral white matter hyperintensities (WMH) is associated with an increased risk of stroke, dementia, and death. WMH are highly heritable, but their genetic underpinnings are incompletely characterized. To identify novel genetic variants influencing WMH burden, we c...
S-EPMC4427240 | biostudies-literature
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