Yi-An Ko

TL;DR: It is found that humans and mouse models with tubulointerstitial fibrosis had lower expression of key enzymes and regulators of fatty acid oxidation (FAO) and higher intracellular lipid deposition compared to controls, raising the possibility that correcting the metabolic defect in FAO may be useful for preventing and treating chronic kidney disease.

TL;DR: A meta-analysis of genome-wide association studies for estimated glomerular filtration rate suggests that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

TL;DR: It is demonstrated that genome-wide cytosine methylation patterns of healthy and chronic kidney disease tubule samples obtained from patients show significant differences, raising the possibility that epigenetic dysregulation plays a role in chronic kidneys disease development via influencing core pro-fibrotic pathways and can aid the development of novel biomarkers and future therapeutics.

TL;DR: Kidney compartment–specific eQTL analysis goes beyond GWAS to reveal causal genes and pathways involved in renal disease development, and reduces Dab2 expression in renal tubules protected mice from CKD.

TL;DR: Genome-wide association studies of kidney function show enrichment of associated genetic variants in regulatory regions, and methylation in kidney cortex associates with lower renal PTPN6 expression, higher eGFR, and less renal fibrosis.