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
DOI
10.1016/j.ekir.2024.03.001
PMID
38899223
PMCID
PMC11184402
PubMedCentral® Posted Date
March 2024
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
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
