Erik Ingelsson

Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes

The paper integrates genetic colocalizations with physiological and pharmacological perturbations to identify causal genes for cardiometabolic diseases.

Alcohol use and cardiometabolic risk in the UK Biobank: a Mendelian randomization study

This study uses Mendelian randomization to show that increased alcohol consumption is associated with higher cardiometabolic risks, including elevated blood pressure and mortality, but lower triglycerides and HbA1C.

A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9/based approach

The paper uses a CRISPR/Cas9-based approach in zebrafish to identify genes affecting heart rate variability and confirms the role of known genes while highlighting a novel gene.

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight novel adipocyte biology

The paper uses DeGAs to identify genetic components across 2,138 phenotypes in the UK Biobank, revealing novel adipocyte biology through variant and gene contributions to obesity-related traits.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

Zebrafish larvae as a model system for systematic characterization of drugs and genes in dyslipidemia and atherosclerosis

The paper develops a zebrafish pipeline to study dyslipidemia and atherosclerosis, identifying potential causal genes and showing drug effects.

Prediction performance of a cardiovascular risk assessment tool using Stanford EHR data repository

The paper develops and evaluates prediction models for cardiovascular diseases and type 2 diabetes using EHR data, showing high discrimination performance for most conditions.

Genetic analyses in UK Biobank identifies 78 novel loci associated with urinary biomarkers providing new insights into the biology of kidney function and chronic disease

The paper conducts genome-wide association studies on urinary biomarkers in the UK Biobank, identifying 78 novel loci and confirming existing associations, linking these biomarkers to chronic diseases.

Development and validation of a next-gen health stratification engine to determine risk for multiple cardiovascular diseases

The paper develops and validates a next-gen risk engine for predicting multiple cardiovascular diseases using UK Biobank data, achieving moderate-to-high discrimination and good calibration.

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

The paper quantifies the risk of left ventricular outflow tract obstructive heart defects (LVOTO) from different NOTCH1 variants in two European cohorts, identifying significant intronic variants and loss-of-function variants as risk factors.

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

Epigenetic influences on aging: a longitudinal genome-wide methylation study in old Swedish twins

This study identifies age-related DNA methylation changes in old Swedish twins over 20 years, showing stability across cohorts and genetic influences independent of age.

Genetic regulatory mechanisms of smooth muscle cells map to coronary artery disease risk loci

The paper identifies five genes modulating coronary artery disease risk through smooth muscle cells by integrating eQTL and GWAS data with transcriptomic and epigenomic analyses.

Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

This paper identifies a protective effect of PCSK9 loss-of-function variant rs11591147 against ischemic stroke using UK Biobank data.

Birthweight, Type 2 Diabetes and Cardiovascular Disease: Addressing the Barker Hypothesis with Mendelian randomization

This study uses Mendelian randomization to show lower birthweight causally increases risk of CAD and T2D in adulthood, independent of adult BMI and hypertension.

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

The paper assesses the medical relevance of protein-truncating variants across 337,208 UK Biobank individuals, identifying 27 associations with 135 phenotypes and highlighting pleiotropic effects.

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank

This study identifies 101 genetic loci associated with hand grip strength in 334,925 UK Biobank participants and links grip strength to brain-related gene expression and health outcomes.

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

Large-scale non-targeted metabolomic profiling in three human population-based studies

The paper develops a workflow for large-scale non-targeted metabolomic profiling in human studies, detecting over 8,000 metabolic features and identifying 90 metabolites associated with hsCRP.