# From GWAS loci to blood pressure genes, variants & mechanisms

> **NIH NIH R01** · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · 2020 · $607,933

## Abstract

The current forward genetics of genome-wide association studies (GWAS) have successfully identified ~300
distinct loci regulating blood pressure (BP), primarily implicating sequence variation within the non-coding
genome. However, for precision medicine of hypertension (HTN), a major challenge for public health,
mechanistic identification of the genomic components altering the expression of BP genes is required. To solve
this important bottleneck, we use a functional genomics inspired reverse genetics strategy to identify the
transcription factors (TF), cis-regulatory elements (CRE), DNA variants and BP genes in four BP relevant
tissues. Taking advantage of the analytical expertise and collaborations within the Family Blood Pressure
Program Essential Hypertension GWAS consortium (FEHGAS3), and newly developed experimental and
computational tools, we propose a novel framework for discovering the functional genetic modules, at
identified BP loci and genome-wide, affecting inter-individual BP variation. Our approach enables answers to
long-standing questions in BP genomics and physiology, with lessons for understanding many other complex
diseases. We propose three major aims: (1) Identifying the transcription factors (TF), enhancers (CRE) and
expressed genes in BP-relevant tissues; (2) Connecting enhancer (CRE) variation to gene expression and BP
variation; and, (3) Identifying causal mechanisms that modulate BP to provide translational insights.

## Key facts

- **NIH application ID:** 9867736
- **Project number:** 5R01HL086694-10
- **Recipient organization:** NEW YORK UNIVERSITY SCHOOL OF MEDICINE
- **Principal Investigator:** ARAVINDA CHAKRAVARTI
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $607,933
- **Award type:** 5
- **Project period:** 2007-09-01 → 2022-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9867736

## Citation

> US National Institutes of Health, RePORTER application 9867736, From GWAS loci to blood pressure genes, variants & mechanisms (5R01HL086694-10). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/9867736. Licensed CC0.

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