- Lipoproteins and Cardiovascular Health
- Health Systems, Economic Evaluations, Quality of Life
- Genetic Associations and Epidemiology
- Cancer, Lipids, and Metabolism
- Bioinformatics and Genomic Networks
- Pharmaceutical Economics and Policy
- Forensic and Genetic Research
- Genomics and Phylogenetic Studies
- Chronic Kidney Disease and Diabetes
- Atherosclerosis and Cardiovascular Diseases
- Lipid metabolism and disorders
- Dialysis and Renal Disease Management
- Peripheral Artery Disease Management
- Genetic diversity and population structure
- Vasculitis and related conditions
- Cardiac Imaging and Diagnostics
- RNA Research and Splicing
- Computational Drug Discovery Methods
- Cerebrovascular and Carotid Artery Diseases
- Identification and Quantification in Food
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Systemic Lupus Erythematosus Research
- Medical Imaging Techniques and Applications
- Cholesterol and Lipid Metabolism
Innsbruck Medical University
2020-2024
Universität Innsbruck
2020-2024
Imperial College London
2019
Within-species contamination is a major issue in sequencing studies, especially for mitochondrial studies. Contamination can be detected by analyzing the nuclear genome or inspecting polymorphic sites (mtDNA). Existing methods using are computationally expensive, and no appropriate tool detecting sample large-scale mtDNA data sets available. Here we present haplocheck, that requires only to detect both targeted whole-genome Our silico simulations amplicon mixture experiments indicate...
Lipoprotein(a) (Lp(a)) concentrations are a major independent risk factor for coronary artery disease (CAD) and mainly determined by variation in LPA. Up to 70% of the LPA coding sequence is located hypervariable kringle IV type 2 (KIV-2) region. It hardly accessible conventional technologies, but may contain functional variants. This study sought investigate new, very frequent splicing variant KIV-2 4733G>A on Lp(a) CAD. We genotyped GCKD (German Chronic Kidney Disease) (n = 4,673)...
Background and objectives Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key regulator of lipid homeostasis. Studies investigating the association between PCSK9 cardiovascular disease in large cohorts patients with CKD are limited. Design, setting, participants, & measurements The concentrations prevalent incident was investigated 5138 White participants German Chronic Kidney Disease study median follow-up 6.5 years. Inclusion criteria were eGFR 30–60 or >60 ml/min per...
Background and aimsPeripheral artery disease (PAD) affects more than 200 million people worldwide. Increased low-density lipoprotein cholesterol (LDL-C)levels are a risk factor for PAD the concentrations influenced by proprotein convertase subtilisin/kexin type 9 (PCSK9). PCSK9 regulates recycling of LDL receptors to cell membrane surface. Only limited number mostly small studies investigated association between serum different definition, which revealed contrasting results.MethodsSerum...
Abstract Background Lipoprotein(a) (Lp(a)) is a causal, genetically determined risk factor for cardiovascular disease (CVD) in the general population. Patients with chronic kidney (CKD) have an increased CVD and elevated Lp(a) concentrations. Only few studies on were performed persons mild‐to‐moderate CKD; none of them used genetic variants to explore potential causal associations. Objectives This study aims investigate association measured predicted concentrations prevalent incident events...
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key regulator of lipid homeostasis. A few earlier genome-wide association studies (GWAS) investigated genetic variants associated with circulating PCSK9 concentrations. However, uncertainty remains about some the loci discovered beyond locus. By conducting largest meta-analysis GWAS (meta-GWAS) so far, we aimed to identify novel and validate previously reported that regulate concentrations.We performed for concentrations in two large...
Abstract Within-species contamination is a major issue in sequencing studies, especially for mitochondrial studies. Contamination can be detected by analysing the nuclear genome or inspecting heteroplasmic sites genome. Existing methods using are computationally expensive, and no suitable tool detecting large-scale datasets available. Here we present haplocheck, that requires only to detect both whole-genome Haplocheck able distinguish between contaminated real phylogeny. By applying...
respectively).Therapeutic intervention with BB-Cl Amidine demonstrated similar results observed in the PAD4-/-animals a reduction percentage of glomeruli NETs, and glomerular leukocyte influx neutrophil, CD4þ T cells macrophages (all P < 0.05 compared to vehicle treated, respectively).BB-Cl treated animals had increased numbers FoxP3þ regulatory from draining lymph nodes group (P ¼ 0.0012).PAD4 inhibition GSK484 was utilized examine specific role PAD4 NETosis MPO-ANCA GN.Similar what seen...