Heiko Runz

Predicting Alzheimer's disease phenotypes with aging clocks: an exploratory analysis

This study explores proteomic and epigenetic aging clocks as biomarkers for Alzheimer's disease phenotypes, finding proteomic clocks improve explained variance in cognitive and biomarker measures by up to 18%.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

Loss of CFHR5 function reduces the risk for age-related macular degeneration

The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank

This study identifies gene-environment interactions affecting plasma proteins in UK Biobank, discovering 683 vQTLs and over 1,400 GEIs across 571 proteins.

isGWAS: ultra-high-throughput, scalable and equitable inference of genetic associations with disease

isGWAS enables fast and scalable genetic association analysis using cohort-level summary data, achieving speeds up to 1500 times faster than existing methods.

Rare genetic variants impact muscle strength

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

The impact of rare protein coding genetic variation on adult cognitive function

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

Brain expression quantitative trait locus and network analysis reveals downstream effects and putative drivers for brain-related diseases

The paper integrates brain RNA-seq and genotype data to identify eQTLs and their downstream effects on brain-related diseases.

Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

Unbiased identification of unknown cellular and environmental factors that mediate eQTLs using principal interaction component analysis

This paper introduces PICALO, a method to identify unknown contexts influencing eQTLs, finding 31 and 21 PICs in blood and brain datasets, respectively, associated with cell type, RNA quality, and environmental factors.

The burden of rare protein-truncating genetic variants on human lifespan

This study examines the impact of rare protein-truncating variants on human lifespan using whole-exome sequencing data from the UK Biobank, identifying significant associations with several genes.

Genetic associations of protein-coding variants in human disease

This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.

Genetic map of regional sulcal morphology in the human brain

This study identifies 388 genetic associations with regional brain sulcal morphology using UK Biobank data, highlighting gene expression and eQTL patterns and providing a 3D visualization resource.

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

Whole exome sequencing in the UK Biobank reveals risk gene SLC2A1 and biological insights for major depressive disorder

The paper analyzes whole exome sequencing data from the UK Biobank to identify rare coding variants associated with major depressive disorder and reveals genetic overlaps with other psychiatric disorders.

Pairwise genetic interactions modulate lipid plasma levels and cellular uptake

The paper identifies genetic and RNAi-based pairwise interactions between lipid-related genes that modulate plasma and cellular lipid levels, suggesting potential drug target pairs for lipid-lowering therapies.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

This paper uses Mendelian randomization and colocalization to identify causal relationships between plasma proteins and disease phenotypes, finding 111 putatively causal effects.

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

Consequences Of Natural Perturbations In The Human Plasma Proteome

The paper identifies 1,927 genetic associations with 1,478 plasma proteins using 10.6 million DNA variants and 3,301 individuals, revealing new drug targets and safety concerns.

Phenotype-specific information improves prediction of functional impact for noncoding variants

PINES improves noncoding variant functional impact prediction by integrating phenotype-dependent epigenetic annotations.

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

The paper uses PheWAS across large cohorts to identify genetic associations with drug targets and predict drug safety and efficacy.