From GWAS loci to blood pressure genes, variants & mechanisms - Renewal

NIH RePORTER · NIH · R01 · $1,164,581 · view on reporter.nih.gov ↗

Abstract

Defects in systolic (S) and diastolic (D) blood pressure (BP) regulation underlie clinical hypertension and its subsequent target organ damage when unrecognized and untreated. Over the past 15 years, we have been major contributors to the genomic analyses of BP enabling dissection of inter-individual SBP and DBP variation, through this FEHGAS research program in collaboration with national/international consortia. While the major approach has been to further expand GWAS, in this renewal (FEHGAS4), we introduce an alternative novel program of using genome-cum-epigenome screens to quantify the contributions of each tissue and cell type to causal BP variation through their transcription factors (TFs), cognate cis regulatory elements (CREs) and target genes, organized into gene regulatory networks (GRNs). Our preliminary studies suggest significant contributions by arterial-, heart-, adrenal- and kidney- specific regulatory variants in decreasing order. In this proposal we ask: (1) Which tissues and cell types contribute to SBP and DBP variation between humans? (2) Which genes in a tissue/cell type contribute to human SBP and DBP control? (3) What is the functional architecture of inter-individual SBP and DBP variation? (4) What is the differential tissue contribution to risk. 1

Key facts

NIH application ID
10814936
Project number
5R01HL086694-13
Recipient
NEW YORK UNIVERSITY SCHOOL OF MEDICINE
Principal Investigator
ARAVINDA CHAKRAVARTI
Activity code
R01
Funding institute
NIH
Fiscal year
2024
Award amount
$1,164,581
Award type
5
Project period
2007-09-01 → 2027-03-31