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Open AccessImpaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease
Thrombo-inflammation and neutrophil extracellular traps (NETs) are exacerbated in severe cases of COVID-19, potentially contributing to disease exacerbation. However, the mechanisms underpinning this dysregula...
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Open AccessAuthor Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism
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Open AccessuAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases ...
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Open AccessElevated plasma complement factor H related 5 protein is associated with venous thromboembolism
Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for V...
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Open AccessAssociation of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design
In studies of time-to-events, it is common to collect information about events that occurred before the inclusion in a prospective cohort. When the studied risk factors are independent of time, including both ...
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Open AccessGenomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in...
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Open AccessPublisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries
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Open AccessStroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-an...
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Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantita...
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Open AccessAn artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism
Venous thromboembolism is the third common cardiovascular disease and is composed of two entities, deep vein thrombosis (DVT) and its potential fatal form, pulmonary embolism (PE). While PE is observed in ~ 40...
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Open AccessCerebral small vessel disease genomics and its implications across the lifespan
White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WM...
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Open AccessAnti-integrin αv therapy improves cardiac fibrosis after myocardial infarction by blunting cardiac PW1+ stromal cells
There is currently no therapy to limit the development of cardiac fibrosis and consequent heart failure. We have recently shown that cardiac fibrosis post-myocardial infarction (MI) can be regulated by residen...
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Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease
Venous thromboembolism is a significant cause of mortality1, yet its genetic determinants are incompletely defined. We performed a discovery genome-wide association study in the Million Veteran Program and UK Bio...
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Open AccessA systems-approach reveals human nestin is an endothelial-enriched, angiogenesis-independent intermediate filament protein
The intermediate filament protein nestin is expressed during embryonic development, but considered largely restricted to areas of regeneration in the adult. Here, we perform a body-wide transcriptome and prote...
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Open AccessNovel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes
Patients with type 1 diabetes are more at risk of coronary artery disease than the general population. Although evidence points to a genetic risk there have been no study investigating genetic risk factors of ...
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Open AccessBlood triglyceride levels are associated with DNA methylation at the serine metabolism gene PHGDH
Efficient interventions to reduce blood triglycerides are few; newer and more tolerable intervention targets are needed. Understanding the molecular mechanisms underlying blood triglyceride levels variation is...
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Open AccessLong-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci
The interplay between genetic and epigenetic variation is only partially understood. One form of epigenetic variation is methylation at CpG sites, which can be measured as methylation quantitative trait loci (...
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Genetic studies of body mass index yield new insights for obesity biology
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), ...
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Open AccessA genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis
Venous Thrombosis (VT) is a common multifactorial disease with an estimated heritability between 35% and 60%. Known genetic polymorphisms identified so far only explain ~5% of the genetic variance of the disea...
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Large-scale association analysis identifies new risk loci for coronary artery disease
Panos Deloukas, Nilesh Samani and colleagues report a large-scale association analysis using the Metabochip array in 63,746 coronary artery disease cases and 130,681 controls. They identify 15 susceptibility l...