Faculty, Staff and Student Publications
Publication Date
6-1-2024
Journal
Kidney International Reports
Abstract
INTRODUCTION: Blood pressure (BP) is a highly heritable trait with over 2000 underlying genomic loci identified to date. Although the kidney plays a key role, little is known about specific cell types involved in the genetic regulation of BP.
METHODS: Here, we applied stratified linkage disequilibrium score (LDSC) regression to connect BP genome-wide association studies (GWAS) results to specific cell types of the mature human kidney. We used the largest single-stage BP genome-wide analysis to date, including up to 1,028,980 adults of European ancestry, and single-cell transcriptomic data from 14 mature human kidneys, with mean age of 41 years.
RESULTS: Our analyses prioritized myofibroblasts and endothelial cells, among the total of 33 annotated cell type, as specifically involved in BP regulation (
CONCLUSION: Our findings provide a solid basis for follow-up studies to further identify genes and mechanisms in myofibroblast cells that underlie the regulation of BP.
Keywords
blood pressure, cell-type, genome, kidney myofibroblast, scRNA-seq
Included in
Bioinformatics Commons, Biological Phenomena, Cell Phenomena, and Immunity Commons, Biomedical Informatics Commons, Internal Medicine Commons, Medical Cell Biology Commons, Medical Genetics Commons, Nephrology Commons, Oncology Commons
Comments
Supplementary Materials
Data Availability Statement
PMID: 38899223