Krzysztof Kiryluk

Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder

This study identifies 36 genetic loci associated with recurrent UTIs and highlights PSCA as a key gene involved in urinary epithelial defense against bacteria.

Atlas of glomerular disease-specific genetic effects on blood transcriptome

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

Interstitial Cystitis: a phenotype and rare variant exome sequencing study

This study uses exome sequencing to identify genetic associations with interstitial cystitis/bladder pain syndrome, finding new links and extending known associations.

Polygenic Risk and Rare Variants in Endotypes of Idiopathic Pulmonary Fibrosis

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

Insights into Renal Protein Handling Through GWAS of the Human Urine Proteome

This study performs GWAS on the human urine proteome, identifying genetic associations with 20 proteins and linking them to disease risk and gene expression.

Cellular and Spatial Drivers of Unresolved Injury and Functional Decline in the Human Kidney

The paper presents a multi-modal atlas of human kidney disease, identifying cellular and spatial mechanisms of injury resolution or failure and linking them to clinical outcomes.

Risk factors affecting polygenic score performance across diverse cohorts

The paper examines how covariates affect polygenic score performance across European and African cohorts, finding significant differences in R2 and interaction effects, and proposes methods to improve model performance.

GWAS highlights the neuronal contribution to multiple sclerosis susceptibility

This study identifies 236 MS susceptibility variants and highlights neuronal and glial dysfunction as key factors in MS susceptibility.

Integration of spatial multiplexed protein imaging and transcriptomics in the human kidney tracks the regenerative potential timeline of proximal tubules

The chromatin landscape of healthy and injured cell types in the human kidney

The paper defines the chromatin landscape of healthy and injured kidney cells using multi-omics data, identifying regulatory elements and transcription factor networks involved in injury response.

Strong protective effect of the APOL1 p.N264K variant against G2-associated FSGS and kidney disease

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

Single Nucleus RNA Sequencing of Remnant Kidney Biopsies and Urine Cell RNA Sequencing Reveal Cell Specific Markers of Covid-19 Acute Kidney Injury

Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms

This paper introduces PhenoPLIER, a method that maps gene-trait and drug associations into gene modules to reveal disease mechanisms and drug targets.

An atlas of healthy and injured cell states and niches in the human kidney

The paper creates a high-resolution cellular atlas of healthy and injured kidney cell states and niches using single-cell and spatial technologies, identifying molecular signatures and pathways related to kidney injury.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits

This study identifies 20 genome-wide significant loci associated with serum IgA levels and finds genetic correlations with various immune and metabolic traits.

Cell-subtype specific effects of genetic variation in the aging and Alzheimer cortex

The paper identifies cell-type and cell-subtype specific eQTLs in aging human cortex, revealing variant effects on gene expression and disease associations.

Incorporating Genetics Services into Adult Kidney Disease Care

This paper describes the establishment of a Kidney Genetics Clinic to improve access to genetic services for adults with kidney disease, reporting a 42.38% yield of clinically relevant genetic findings.

Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

Genome-wide polygenic score with APOL1 risk genotypes predicts chronic kidney disease across major continental ancestries

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

Alternative splicing of OAS1 alters the risk for severe COVID-19

The paper identifies an alternative splicing variant of OAS1 that provides protection against severe COVID-19 in people of African ancestry, independent of Neanderthal haplotypes.

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

This study identifies 30 genome-wide significant risk loci for IgA nephropathy, links them to inflammatory pathways, and prioritizes drug targets.

Multi-ancestry gene-trait connection landscape using electronic health record (EHR) linked biobank data

The paper uses multi-ancestry biobank data and integrative methods to identify gene-disease associations across different ancestry groups, finding shared and ancestry-specific genetic links.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study

The paper evaluates the generalizability of breast cancer polygenic risk scores across three ancestral groups using the eMERGE dataset, finding good performance in LatinX but not African ancestry women.

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

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.

FUN-LDA: A latent Dirichlet allocation model for predicting tissue-specific functional effects of noncoding variation

FUN-LDA predicts tissue-specific functional effects of noncoding variants by integrating epigenetic data, showing higher accuracy than existing methods in eQTL and GWAS analyses.

Estimate of disease heritability using 7.4 million familial relationships inferred from electronic health records

The paper uses next-of-kin data from electronic health records to estimate heritability for 500 disease phenotypes, finding results consistent with existing literature.

GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway

This paper identifies two genetic loci associated with serum galactose-deficient IgA1 levels and shows their role in O-glycosylation regulation.