Stefan Coassin
A5091851521- Lipoproteins and Cardiovascular Health
- Genetic Associations and Epidemiology
- Cancer, Lipids, and Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cholesterol and Lipid Metabolism
- Atherosclerosis and Cardiovascular Diseases
- Liver Disease Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Lipid metabolism and disorders
- Adipokines, Inflammation, and Metabolic Diseases
- Genomics and Rare Diseases
- Peroxisome Proliferator-Activated Receptors
- Molecular Biology Techniques and Applications
- Genetic Mapping and Diversity in Plants and Animals
- RNA Research and Splicing
- RNA modifications and cancer
- Chronic Kidney Disease and Diabetes
- Renal Diseases and Glomerulopathies
- Advanced Proteomics Techniques and Applications
- Lipid metabolism and biosynthesis
- Systemic Lupus Erythematosus Research
- Marine Ecology and Invasive Species
- Gout, Hyperuricemia, Uric Acid
- Metabolomics and Mass Spectrometry Studies
- Diet, Metabolism, and Disease
Innsbruck Medical University
2016-2025
Universität Innsbruck
2015-2024
University of Lübeck
2016
Institut für Medizinische Informatik, Biometrie und Epidemiologie
2016
University Medical Center
2016
Jena University Hospital
2016
University of Freiburg
2016
University of Regensburg
2008
Helmholtz Zentrum München
2008
Ludwig-Maximilians-Universität München
2008
Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions both concentration of LDL cholesterol risk coronary heart disease, but also modest hyperglycaemia, increased bodyweight, modestly type 2 diabetes, which no way offsets their substantial benefits. We sought to investigate associations cholesterol-lowering PCSK9 diabetes related biomarkers gauge likely effects inhibitors on risk.In this mendelian randomisation study, we used data from cohort...
Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD) and end stage renal (ESRD). Previously, we identified 16 loci for eGFR in genome-wide association studies, but associations these single nucleotide polymorphisms (SNPs) incident CKD or ESRD are unknown. We thus investigated with 26,308 individuals European ancestry free at baseline drawn from eight population-based cohorts followed median 7.2 years (including 2,122 cases defined as <60ml/min/1.73m2...
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark diabetic kidney disease and associated with an increased risk for end-stage renal cardiovascular events. To gain insight into pathophysiological mechanisms underlying we conducted meta-analyses genome-wide association studies independent replication up to 5,825 individuals European ancestry diabetes 46,061 without diabetes, followed by functional studies. Known associations variants CUBN, encoding cubilin, urinary...
Significance Although sequencing of the human genome was completed years ago, we still do not know about physiological significance thousands predicted proteins, particularly membrane proteins. On other hand, for approximately 100 enzymes, no coding gene is known even though their enzymatic reaction has been well characterized. In this work, assign one those proteins (transmembrane protein 189; TMEM189) to reactions with an uncharacterized (plasmanylethanolamine desaturase). This enzyme...
Abstract Background Medical results generated by European CE Marking for In Vitro Diagnostic or in-house tests should be traceable to higher order reference measurement systems (RMS), such as International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)-endorsed procedures (RMPs) materials. Currently, serum apolipoprotein (a) [apo(a)] is recognized a novel risk factor cardiovascular assessment patient management. The former RMS apo(a) no longer available; consequently, an...
Lp(a) concentrations represent a major cardiovascular risk factor and are almost entirely controlled by one single locus (LPA). However, many genetic factors in LPA governing the enormous variance of levels still unknown. Since up to 70% coding sequence located difficult access hypervariable copy number variation named KIV-2, we hypothesized that it may contain novel functional variants with pronounced effects on concentrations. We performed large scale mutation analysis KIV-2 using an...
Alterations of mitochondrial DNA (mtDNA) copy number have been associated with a wide variety phenotypes and diseases. Unfortunately, the literature provides scarce methodical information about duplex targeting nuclear mtDNA that meets quality criteria for qPCR. Therefore, we established method quantification using quantitative PCR assay allows simultaneous single gene (beta-2-microglobulin) t-RNALeu on mtDNA. We include plasmid containing both targets in order to normalize against...
Current dyslipidemia management in patients with atherosclerotic cardiovascular disease (ASCVD) is based on traditional serum lipids. Yet, there some indication from basic research that apolipoproteins A-I, (a), B, C-I, C-II, C-III, and E may give better pathophysiological insight into the root causes of dyslipidemia. To facilitate future adoption clinical apolipoprotein (apo) profiling for precision medicine, strategies accurate testing should be developed advance. Recent discoveries...
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 Background Elevated concentrations of lipoprotein(a) [Lp(a)] are directly related to an increased risk cardiovascular diseases, making it a relevant biomarker for clinical assessment. However, the lack global standardization current Lp(a) measurement procedures (MPs) leads inconsistent patient care. The International Federation Clinical Chemistry and Laboratory Medicine working group on quantitating apolipoproteins by mass spectrometry (MS) aims develop next-generation SI...
Abstract Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range traits and diseases by calculating weighted sum allele dosages variants associated with trait or disease in question. Present approaches PGS from genotypes are often inefficient labor-intensive, limiting transferability into clinical applications. Here, we present ‘Imputation Server PGS’, an extension Michigan Imputation designed to automate standardized calculation polygenic based on imputed...
Background— High-density lipoprotein cholesterol (HDLC) is a strong risk factor for atherosclerosis and assumed to be under considerable genetic control. We aimed identify gene regions that influence HDLC levels by genome-wide association analysis in the population-based KORA (Cooperative Health Research Region of Augsburg) study. Methods Results— In S3/F3 (n=1643), we analyzed 377 865 quality-checked single-nucleotide polymorphisms (SNPs; 500K, Affymetrix, Santa Clara, Calif), complemented...
High serum uric acid levels lead to gout and have been reported be associated with an increased risk of hypertension, obesity, metabolic syndrome, type 2 diabetes, cardiovascular disease. Recently, the putative fructose transporter SLC2A9 was influence levels. The aim present study examine association four single nucleotide polymorphisms within this gene determine whether is modified by obesity.