A5073889603- Lipoproteins and Cardiovascular Health
- Genetic Associations and Epidemiology
- Cholesterol and Lipid Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Bioinformatics and Genomic Networks
- Health Systems, Economic Evaluations, Quality of Life
- RNA Research and Splicing
- Gene expression and cancer classification
- Cancer, Lipids, and Metabolism
- Pharmaceutical Economics and Policy
- Atherosclerosis and Cardiovascular Diseases
- Chronic Kidney Disease and Diabetes
- Cell Adhesion Molecules Research
- Genomics and Phylogenetic Studies
- Lipid metabolism and disorders
- Genomics and Rare Diseases
- Medical Imaging Techniques and Applications
- CAR-T cell therapy research
- Systemic Lupus Erythematosus Research
- RNA and protein synthesis mechanisms
- Peroxisome Proliferator-Activated Receptors
- Immunotherapy and Immune Responses
- Computational Drug Discovery Methods
- Melanoma and MAPK Pathways
- Pharmacogenetics and Drug Metabolism
Universität Innsbruck
2019-2024
Innsbruck Medical University
2019-2024
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)...
Abstract Genome-wide association studies (GWAS) are transforming genetic research and enable the detection of novel genotype-phenotype relationships. In last two decades, over 60 000 associations across thousands traits have been discovered using a GWAS approach. Due to increasing sample sizes, researchers increasingly faced with computational challenges. A reproducible, modular extensible pipeline focus on parallelization is essential simplify data analysis allow devote their time other...
Therapeutic success of targeted therapy with BRAF inhibitors (BRAFi) for melanoma is limited by resistance development. Observations from preclinical mouse models and recent insights into the immunological effects caused BRAFi give promise future development combination human melanoma. In our study, we used transplantable D4M model V600E mutation concomitant PTEN loss in order to characterize alterations tumor‐infiltrating effector immune cells when tumors become resistant BRAFi. We found...
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...
Abstract Background Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved (“dark”) in variation databases due to their repetitive nature. One particularly complex and medically relevant VNTR is the KIV-2 located cardiovascular disease gene LPA which encompasses up 70% of coding sequence. Results Using as a model, we develop computational approach resolve intra-repeat from largely...
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...
HDL-mediated cholesterol efflux capacity (CEC) may protect against cardiovascular disease. However, CEC assays are not standardized, hampering their application in large cohorts and comparison between studies. To improve standardization, we systematically investigated technical differences existing protocols that influence assay performance have been previously addressed. was measured 96-well plates using J774A.1 macrophages labeled with BODIPY-cholesterol incubated for 4 h 2% apolipoprotein...
Abstract Motivation Genome-wide association studies (GWAS) in large biobanks are transforming genetic research and enable the detection of novel genotype-phenotype relationships. In last two decades, over 60,000 associations across thousands human diseases traits have been discovered using a GWAS approach. Due to denser genotyping increasing sample sizes, researchers increasingly faced with computational challenges when executing analysis. A reproducible, modular extensible pipeline focus on...