# Project 4 - Uzun

> **NIH NIH P20** · WOMEN AND INFANTS HOSPITAL-RHODE ISLAND · 2020 · $23,219

## Abstract

Project Summary/Abstract: Preeclampsia is a multi-system hypertensive disorder of pregnancy, 
characterized by variable degrees of maternal symptoms including elevated blood pressure, proteinuria and 
fetal growth retardation that affect 5-8 % of deliveries in the US. Preeclampsia is a complex disease and one of 
the most common causes of fetal and maternal morbidity and mortality worldwide. The classical approach to 
genetics is twin studies where it has been shown that the heritability of preeclampsia is between 22% and 
52%. It is one of the great but enigmatic health problems. Despite many studies, there has been little 
fundamental improvement in our understanding in decades. In the post genome era, biological research and 
genomic medicine have been transformed by high-throughput technologies. New techniques have enabled 
researchers to investigate biological systems in great detail. Nonetheless, the extraordinary amount of 
information in the large number of emerging high-dimension datasets has not been fully exploited. Increasingly, 
pathway analysis and other a priori biological knowledge based approaches have improved success in 
extraction of valuable information from high-throughput experiments and genome-wide association studies. We 
hypothesize that preeclampsia is a complex, polygenic disorder that entails activation of a network of genes. 
We will perform a case/control study using whole exome sequencing. We will restrict our enrollment to patients 
with early, severe preeclampsia. The working hypothesis is that this will provide better power, lower 
heterogeneity, and higher genetic effect for this complex phenotype. We will use bioinformatic approaches to 
identify the gene networks and causal variants that contribute to severe preeclampsia. This will be coupled with 
high-throughput technologies applied to this carefully chosen cohort of patients.

## Key facts

- **NIH application ID:** 9883808
- **Project number:** 5P20GM121298-04
- **Recipient organization:** WOMEN AND INFANTS HOSPITAL-RHODE ISLAND
- **Principal Investigator:** Alper Uzun
- **Activity code:** P20 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $23,219
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9883808

## Citation

> US National Institutes of Health, RePORTER application 9883808, Project 4 - Uzun (5P20GM121298-04). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/9883808. Licensed CC0.

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