Johan Björkegren

The paper identifies 1,580 cell type-specific genes and non-coding RNAs associated with coronary artery disease by integrating genetic and epigenetic data from multiple cell types.

The paper examines sex-specific regulation of EndMT in atherosclerosis using bulk RNA-seq and single-cell transcriptomics, identifying key regulators and stage-dependent differences.

The paper identifies tissue-specific protein regulation and pQTLs associated with cardiometabolic disease using multi-tissue proteomic data from STARNET patients.

The paper identifies female-biased VSMC gene regulatory networks and highlights MYH9 as a key regulator of fibrous plaque phenotype in females.

This study uses spatial transcriptomics to compare gene expression in intima and media of human coronary arteries, revealing dedifferentiated SMCs in DIT that differ from proinflammatory SMCs in atherosclerotic lesions.

The paper creates a molecular atlas of mouse liver cell types using single-cell RNA sequencing, revealing new insights into hepatic endothelial and mesenchymal cells and their responses to fibrosis.

This study performs a meta-analysis of scRNA-seq datasets to map human atherosclerosis cell diversity and identifies disease-relevant vascular cell states and markers.

The paper identifies genetic variants associated with plasma cortisol and cardiovascular disease, revealing gene networks in liver and adipose tissues regulated by corticosteroid binding globulin and the glucocorticoid receptor.

The paper identifies key driver genes affecting adipocyte function and body fat distribution using systems genetics and experimental validation.

The paper identifies sex-stratified gene regulatory networks in atherosclerotic plaques, showing female plaques are enriched with myofibroblast-like smooth muscle cell networks.

This study identifies shared and distinct genetic pathways between human and mouse in coronary artery disease using multi-omics data and GWAS, showing over 75% shared pathways.

This study identifies Cystatin C as a glucocorticoid-responsive factor that recruits Trem2+ macrophages and predicts immunotherapy failure in cancer.

The paper identifies genetic variants with discordant effects on type 2 diabetes and abdominal obesity and proposes potential mechanisms for these effects.

This study identifies FHL5 as a causal gene for vascular disease risk through eQTL colocalization and functional analyses, showing its role in vascular remodeling and calcification.

The paper uses single-cell ATAC-seq to analyze coronary artery cells from CAD patients, identifying regulatory mechanisms and risk variants associated with disease.

This study uses transcriptome-wide association analysis to identify 114 genes associated with coronary artery disease, including 18 novel genes, and shows they are enriched in lipid metabolism pathways.

The paper identifies eQTLs and sQTLs in human aortic SMCs that colocalize with CAD GWAS loci, highlighting splicing regulation as a mechanism for CAD risk.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study integrates transcriptome data with genetic variation to identify gene-trait associations and uncover biological mechanisms underlying complex traits in humans and mice.

This paper evaluates transcriptome-wide association studies (TWAS) for causal gene prioritization, showing its strengths and limitations in identifying causal genes at GWAS loci.

EnsembleCNV improves CNV detection and genotyping using SNP arrays, achieving high accuracy and sensitivity for downstream GWAS.

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.