# Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry - Study Sites

> **NIH NIH U01** · UNIVERSITY OF MARYLAND BALTIMORE · 2022 · $950,311

## Abstract

Abstract/Summary
Globally, non-communicable diseases (NCDs) outrank infectious diseases in terms of public health burden.
Cardiometabolic diseases (CMD) such as heart disease and stroke are the leading causes of death worldwide.
In this application we will explore the genomic risk for common CMD, including hypertension, stroke, diabetes,
obesity, dyslipidemia and kidney disease, and related traits (including BMI, blood pressure, lipid, glucose, insulin
and creatine) across populations with African ancestry (AA). There is evidence to suggest that polygenic risk
scores (PRSs) translate poorly from a discovery study in one ancestral population (e.g. European Americans) to
a target population (e.g. sub-Saharan Africans), especially when they are separated by large genetic differences.
However, this has not been evaluated with large, well-powered AA datasets. Furthermore, the high genetic
diversity and population structure among non-European Ancestry (EA) populations need to be investigated to
understand the performance of PRSs in other regions populated by people with diverse genomic backgrounds.
We bring together the Human Heredity and Health in Africa Consortium (H3Africa), other African, Jamaican and
African American core cohorts, to develop a joint resource of over 50,000 participants with relevant phenotype
and genomics data, referred to as the CARdiometabolic Disorders IN African-ancestry PopuLations
(CARDINAL) Study Site. In addition, the CARDINAL Study Site will include 5 replication cohorts with >100,000
participants from diverse ancestry populations. Our main objective is to establish a Study Site for PRS
Methods and Analysis for AA Populations and to collaboratively generate and refine PRS for other
populations of diverse ancestry by integrating existing datasets with genomics and phenotype data for
a range of complex diseases and traits. Our first aim is to integrate phenotype and genomic datasets from
~50,000 African individuals from seven individual cohort studies. Subsequently, we will evaluate PRSs and
develop a novel method that takes into consideration, ancestry-specific genomic regions to improve prediction
of PRSs in populations characterised by genetic sub-structure. Finally, we will develop an interactive dashboard
for dissemination of PRS-related data from diverse ancestry populations. CARDINAL Study Site is ideal for
generating novel biologic insights into complex disease etiology, with applications in global populations.
Members of the CARDINAL team have successfully worked together for about a decade, generating and
disseminating scientific knowledge through high impact publications. By establishing a Study Site in the
Polygenic Risk Score Diversity Consortium, CARDINAL brings the largest cohort of African-ancestry
participants to the table, to explore the genomics contribution to common CMDs and other NCDs.

## Key facts

- **NIH application ID:** 10424453
- **Project number:** 5U01HG011717-02
- **Recipient organization:** UNIVERSITY OF MARYLAND BALTIMORE
- **Principal Investigator:** Sally Nneoma Adebamowo
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $950,311
- **Award type:** 5
- **Project period:** 2021-06-08 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10424453

## Citation

> US National Institutes of Health, RePORTER application 10424453, Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry - Study Sites (5U01HG011717-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10424453. Licensed CC0.

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