Anna Köttgen

The paper investigates the transcriptional impact of loss of the Y chromosome (LOY) in clear cell renal cell carcinoma (ccRCC) and other cancers, finding minimal effects beyond gene dosage and pathway-level shifts.

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

The paper investigates sex-specific effects of Vhl and Vhl/Pbrm1 mutations in renal proximal tubule cells, revealing differences in lipid droplet accumulation and clonal expansion between males and females.

This study examines how hypomorphic IFT and dynein-2 mutations affect chondrogenic differentiation, ECM composition, and Wnt signaling in ATDC5 organoids, revealing genotype-dependent changes in signaling pathways and ECM.

The paper develops a transcriptome-based method to match bulk RNA-seq data from kidney cell lines to single-cell reference datasets, identifying accurate cell type identities and evaluating method performance.

This study identifies molecular determinants of high-affinity PDZK1 binding to URAT1 using biophysical and structural methods, revealing species-specific interactions.

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

This study uses Mendelian randomization to assess how cardiometabolic drugs affect kidney function, finding specific drug targets influence eGFR and related biomarkers.

This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.

This study identifies SLC17A1 and SLC17A3 as key transporters for Lac-Phe excretion in urine, showing genetic and functional associations in mice and humans.

The paper identifies medulla-specific gene expression patterns in adult human kidney tissues using multi-omic data and corrects misassignments in the GTEx database.

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.

The paper assesses if a polygenic score for reduced kidney function predicts adverse outcomes in chronic kidney disease patients, finding significant associations but no improvement in prediction over existing risk equations.

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

This paper introduces scVIDE, a method to determine statistical power for cell group detection in scRNA-seq data by generating synthetic datasets and using permutation tests.

The paper identifies cis-pQTLs and develops models for proteome-wide association studies using plasma proteome data from European and African ancestry populations.

The paper identifies TTC30A/B as a key gene in ciliary chondrodysplasia and nephronophthisis-like disease using CRISPR/Cas9 in Xenopus tropicalis models.

This study identifies 424 new loci associated with kidney function using GWAS data from over 1.2 million individuals and prioritizes 34 genes for further functional investigation.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

This study develops a polygenic risk score for eGFR and shows its association with kidney disease outcomes and plasma proteins in the ARIC study.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

This study uses Mendelian randomisation to show higher kidney function causally lowers blood pressure, but blood pressure does not significantly affect kidney function.

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.