Stefan Gustafsson
Researcher at Department of Medical Sciences; Clinical Epidemiology
- E-mail:
- stefan.gustafsson@medsci.uu.se
- Visiting address:
- EpiHubben,Dag Hammarskjölds väg 14B
SE-75185 Uppsala
Sweden - Postal address:
- EpiHubben, MTC-huset
SE-751 85 Uppsala
Sweden

Publications
Recent publications
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Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome
Part of Cell, p. 3339-+, 2026
- DOI for Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome
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A deep learning ECG model for identification and localization of occlusion myocardial infarction
Part of Nature Communications, 2026
- DOI for A deep learning ECG model for identification and localization of occlusion myocardial infarction
- Download full text (pdf) of A deep learning ECG model for identification and localization of occlusion myocardial infarction
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Cardiomyopathies: Nationwide Trends in Prevalence, Incidence, and Mortality (2004-2023)
Part of Journal of the American College of Cardiology, p. 1087-1090, 2026
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Part of eClinicalMedicine, 2026
- DOI for Persistence to antihypertensive drug classes in uncomplicated hypertension: a nationwide Swedish cohort study
- Download full text (pdf) of Persistence to antihypertensive drug classes in uncomplicated hypertension: a nationwide Swedish cohort study
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Polygenic prediction of body mass index and obesity through the life course and across ancestries
Part of Nature Medicine, p. 3151-3168, 2025
- DOI for Polygenic prediction of body mass index and obesity through the life course and across ancestries
- Download full text (pdf) of Polygenic prediction of body mass index and obesity through the life course and across ancestries
All publications
Articles in journal
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Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome
Part of Cell, p. 3339-+, 2026
- DOI for Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome
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A deep learning ECG model for identification and localization of occlusion myocardial infarction
Part of Nature Communications, 2026
- DOI for A deep learning ECG model for identification and localization of occlusion myocardial infarction
- Download full text (pdf) of A deep learning ECG model for identification and localization of occlusion myocardial infarction
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Cardiomyopathies: Nationwide Trends in Prevalence, Incidence, and Mortality (2004-2023)
Part of Journal of the American College of Cardiology, p. 1087-1090, 2026
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Part of eClinicalMedicine, 2026
- DOI for Persistence to antihypertensive drug classes in uncomplicated hypertension: a nationwide Swedish cohort study
- Download full text (pdf) of Persistence to antihypertensive drug classes in uncomplicated hypertension: a nationwide Swedish cohort study
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Polygenic prediction of body mass index and obesity through the life course and across ancestries
Part of Nature Medicine, p. 3151-3168, 2025
- DOI for Polygenic prediction of body mass index and obesity through the life course and across ancestries
- Download full text (pdf) of Polygenic prediction of body mass index and obesity through the life course and across ancestries
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Part of Metabolism, 2025
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Markers of imminent myocardial infarction
Part of Nature Cardiovascular Research, p. 130-139, 2024
- DOI for Markers of imminent myocardial infarction
- Download full text (pdf) of Markers of imminent myocardial infarction
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Part of JMIR Formative Research, 2024
- DOI for Person-Centered Web-Based Mobile Health System (Symptoms) for Reporting Symptoms in COVID-19 Vaccinated Individuals: Observational Study of System, Users, and Symptoms
- Download full text (pdf) of Person-Centered Web-Based Mobile Health System (Symptoms) for Reporting Symptoms in COVID-19 Vaccinated Individuals: Observational Study of System, Users, and Symptoms
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Heart failure treatment in the last years of life: A nationwide study of 364 000 individuals
Part of European Journal of Heart Failure, p. 2443-2450, 2024
- DOI for Heart failure treatment in the last years of life: A nationwide study of 364 000 individuals
- Download full text (pdf) of Heart failure treatment in the last years of life: A nationwide study of 364 000 individuals
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Evaluating regression and probabilistic methods for ECG-based electrolyte prediction
Part of Scientific Reports, 2024
- DOI for Evaluating regression and probabilistic methods for ECG-based electrolyte prediction
- Download full text (pdf) of Evaluating regression and probabilistic methods for ECG-based electrolyte prediction
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Loci for insulin processing and secretion provide insight into type 2 diabetes risk
Part of American Journal of Human Genetics, p. 284-299, 2023
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Plasma Protein Profiling of Incident Cardiovascular Diseases: A Multisample Evaluation
Part of CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023
- DOI for Plasma Protein Profiling of Incident Cardiovascular Diseases: A Multisample Evaluation
- Download full text (pdf) of Plasma Protein Profiling of Incident Cardiovascular Diseases: A Multisample Evaluation
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Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases
Part of Clinical Proteomics, 2023
- DOI for Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases
- Download full text (pdf) of Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases
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Fibroblast Growth Factor-23 and Risk of Cardiovascular Diseases A Mendelian Randomization Study
Part of American Society of Nephrology. Clinical Journal, p. 17-27, 2023
- DOI for Fibroblast Growth Factor-23 and Risk of Cardiovascular Diseases A Mendelian Randomization Study
- Download full text (pdf) of Fibroblast Growth Factor-23 and Risk of Cardiovascular Diseases A Mendelian Randomization Study
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Part of Nature Genetics, p. 973-983, 2023
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Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts
Part of Diabetologia, p. 1643-1654, 2023
- DOI for Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts
- Download full text (pdf) of Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts
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Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models
Part of Scientific Data, 2023
- DOI for Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models
- Download full text (pdf) of Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models
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A saturated map of common genetic variants associated with human height
Part of Nature, p. 704-712, 2022
- DOI for A saturated map of common genetic variants associated with human height
- Download full text (pdf) of A saturated map of common genetic variants associated with human height
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Part of Genome Biology, 2022
- DOI for Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
- Download full text (pdf) of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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Stroke genetics informs drug discovery and risk prediction across ancestries
Part of Nature, p. 115-+, 2022
- DOI for Stroke genetics informs drug discovery and risk prediction across ancestries
- Download full text (pdf) of Stroke genetics informs drug discovery and risk prediction across ancestries
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Genetic Landscape of the ACE2 Coronavirus Receptor
Part of Circulation, p. 1398-1411, 2022
- DOI for Genetic Landscape of the ACE2 Coronavirus Receptor
- Download full text (pdf) of Genetic Landscape of the ACE2 Coronavirus Receptor
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Part of Scientific Reports, 2022
- DOI for Development and validation of deep learning ECG-based prediction of myocardial infarction in emergency department patients
- Download full text (pdf) of Development and validation of deep learning ECG-based prediction of myocardial infarction in emergency department patients
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
Part of American Journal of Human Genetics, p. 1366-1387, 2022
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Part of Scientific Reports, 2022
- DOI for A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections
- Download full text (pdf) of A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections
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Part of medRxiv : the preprint server for health sciences, p. 1-28, 2021
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The power of genetic diversity in genome-wide association studies of lipids
Part of Nature, p. 675-679, 2021
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Part of Journal of the American Heart Association, 2021
- DOI for Large-Scale Plasma Protein Profiling of Incident Myocardial Infarction, Ischemic Stroke, and Heart Failure
- Download full text (pdf) of Large-Scale Plasma Protein Profiling of Incident Myocardial Infarction, Ischemic Stroke, and Heart Failure
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A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids
Part of Nature Communications, 2021
- DOI for A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids
- Download full text (pdf) of A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids
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Renin-Angiotensin Aldosterone System Inhibitors in Primary Prevention and COVID-19
Part of Journal of the American Heart Association, 2021
- DOI for Renin-Angiotensin Aldosterone System Inhibitors in Primary Prevention and COVID-19
- Download full text (pdf) of Renin-Angiotensin Aldosterone System Inhibitors in Primary Prevention and COVID-19
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The trans-ancestral genomic architecture of glycemic traits
Part of Nature Genetics, p. 840-860, 2021
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Part of Circulation, p. 671-685, 2020
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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Part of Nature Metabolism, p. 1135-1148, 2020
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Part of Kidney International, p. 1197-1208, 2019
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Proteomic Analysis of Longitudinal Changes in Blood Pressure
Part of Journal of Clinical Medicine, 2019
- DOI for Proteomic Analysis of Longitudinal Changes in Blood Pressure
- Download full text (pdf) of Proteomic Analysis of Longitudinal Changes in Blood Pressure
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Body composition and atrial fibrillation: a Mendelian randomization study
Part of European Heart Journal, p. 1277-1282, 2019
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Part of Genetic Epidemiology, p. 215-226, 2019
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
Part of BMC Cardiovascular Disorders, 2019
- DOI for Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
- Download full text (pdf) of Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
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Common Genetic Variation in Relation to Brachial Vascular Dimensions and Flow-Mediated Vasodilation
Part of Circulation, 2019
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Part of Nature Genetics, p. 452-469, 2019
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Part of Diabetologia, p. 800-804, 2019
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Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
Part of Neurology Genetics, 2018
- DOI for Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
- Download full text (pdf) of Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
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Associations of Circulating Protein Levels With Lipid Fractions in the General Population
Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 2505-2518, 2018
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Part of Circulation, p. 2583-2591, 2018
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Part of Vascular Medicine, p. 300-300, 2018
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Part of Circulation, p. 2869-2880, 2018
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Use of Proteomics to Investigate Blood Pressure Progress in the Elderly
Part of Journal of Hypertension, 2018
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Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
Part of Scientific Reports, 2018
- DOI for Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
- Download full text (pdf) of Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
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Part of Nature Genetics, p. 559-571, 2018
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Part of Nature Genetics, p. 524-537, 2018
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Part of Circulation, 2018
- DOI for Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease Addressing the Barker Hypothesis With Mendelian Randomization
- Download full text (pdf) of Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease Addressing the Barker Hypothesis With Mendelian Randomization
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Part of American Journal of Human Genetics, p. 103-115, 2018
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Part of Human Molecular Genetics, p. 1809-1818, 2018
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Multi-ethnic genome-wide association study for atrial fibrillation
Part of Nature Genetics, p. 1225-1233, 2018
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Part of Nature Genetics, p. 26-+, 2018
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Part of Diabetologia, p. 2174-2179, 2018
- DOI for Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank
- Download full text (pdf) of Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank
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A DNA methylation biomarker of alcohol consumption.
Part of Molecular Psychiatry, p. 422-433, 2018
- DOI for A DNA methylation biomarker of alcohol consumption.
- Download full text (pdf) of A DNA methylation biomarker of alcohol consumption.
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Part of Adipocyte, p. 285-296, 2018
- DOI for Role of peroxisome proliferator-activated receptor gamma Pro12Ala polymorphism in human adipose tissue: assessment of adipogenesis and adipocyte glucose and lipid turnover.
- Download full text (pdf) of Role of peroxisome proliferator-activated receptor gamma Pro12Ala polymorphism in human adipose tissue: assessment of adipogenesis and adipocyte glucose and lipid turnover.
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Targeted proteomic analysis of habitual coffee consumption.
Part of Journal of Internal Medicine, p. 200-211, 2018
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Part of PLoS Medicine, 2017
- DOI for Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach
- Download full text (pdf) of Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach
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Use of Proteomics To Investigate Kidney Function Decline over 5 Years
Part of American Society of Nephrology. Clinical Journal, p. 1226-1235, 2017
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Part of Atherosclerosis, p. 196-204, 2017
- DOI for Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation
- Download full text (pdf) of Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation
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Part of Circulation, 2017
- DOI for Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies
- Download full text (pdf) of Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies
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Part of Upsala Journal of Medical Sciences, p. 234-242, 2017
- DOI for Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers
- Download full text (pdf) of Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers
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Part of Nature Genetics, p. 946-+, 2017
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Rare and low-frequency coding variants alter human adult height
Part of Nature, p. 186-190, 2017
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An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Part of Diabetes, p. 2888-2902, 2017
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Part of PLOS Genetics, 2017
- DOI for Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
- Download full text (pdf) of Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
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Part of European Journal of Preventive Cardiology, p. 340-348, 2017
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Part of Diabetologia, 2017
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Part of International Journal of Epidemiology, p. 1211-1222, 2017
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PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study
Part of The Lancet Diabetes and Endocrinology, p. 97-105, 2017
- DOI for PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study
- Download full text (pdf) of PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
Part of Nature Communications, 2016
- DOI for New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
- Download full text (pdf) of New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
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Part of Human Molecular Genetics, p. 5472-5482, 2016
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Part of Scientific Reports, 2016
- DOI for No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis
- Download full text (pdf) of No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis
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Part of Human Molecular Genetics, p. 817-827, 2016
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Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
Part of Nature Communications, 2016
- DOI for Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
- Download full text (pdf) of Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
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Part of Diabetes, p. 3200-3211, 2016
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Part of Diabetologia, p. 2114-2124, 2016
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Protein Biomarkers for Insulin Resistance and Type 2 Diabetes Risk in Two Large Community Cohorts
Part of Diabetes, p. 276-284, 2016
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Part of PLOS Genetics, 2015
- DOI for The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
- Download full text (pdf) of The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
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Population genetic differentiation of height and body mass index across Europe
Part of Nature Genetics, p. 1357-1362, 2015
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Part of Atherosclerosis, p. 304-310, 2015
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Part of Journal of the American Heart Association, 2015
- DOI for Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease
- Download full text (pdf) of Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease
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A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
Part of Nature Genetics, p. 1121-1130, 2015
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The impact of low-frequency and rare variants on lipid levels
Part of Nature Genetics, p. 589-597, 2015
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Part of Nature Genetics, p. 1415, 2015
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Biological interpretation of genome-wide association studies using predicted gene functions
Part of Nature Communications, 2015
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Part of Nature Communications, 2015
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New genetic loci link adipose and insulin biology to body fat distribution
Part of Nature, p. 187-196, 2015
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Genetic studies of body mass index yield new insights for obesity biology
Part of Nature, p. 197-206, 2015
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Mendelian randomization study of height and risk of colorectal cancer
Part of International Journal of Epidemiology, p. 662-672, 2015
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Part of Nature Genetics, p. 1173-1186, 2014
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Part of Nature Genetics, p. 826-836, 2014
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Quality control and conduct of genome-wide association meta-analyses
Part of Nature Protocols, p. 1192-1212, 2014
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Part of Nature Genetics, p. 501-U69, 2013
- DOI for Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- Download full text (pdf) of Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
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Discovery and refinement of loci associated with lipid levels
Part of Nature Genetics, p. 1274-1283, 2013
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Common variants associated with plasma triglycerides and risk for coronary artery disease
Part of Nature Genetics, p. 1345-+, 2013
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Part of Diabetes, p. 3589-3598, 2013
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Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
Part of American Journal of Human Genetics, p. 236-248, 2013