# Genetics of kidney disease in diverse populations

> **NIH NIH R01** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2020 · $543,234

## Abstract

ABSTRACT
Chronic kidney disease affects one in 10 people worldwide, and it contributes to premature morbidity and
death. The underlying mechanisms for its development and predisposition are unknown, limiting progress in
the identification of prognostic biomarkers or the development of treatment interventions. There are known
ethnic disparities in chronic kidney disease risk, yet little research has been done in diverse (non-European)
populations. Studies have identified several ancestral variants (e.g., APOL1, sickle cell) conferring risk of
chronic kidney disease in persons of African ancestry including admixed Hispanics/Latinos. To better
understand the genetic risk for chronic kidney disease across diverse populations, we recently established the
Continental Origins and Genetic Epidemiology Network Kidney (COGENT-Kidney) Consortium, which includes
71,638 participants from four major ancestral groups (African, Hispanic/Latino, European and East Asian).
Using novel trans-ethnic meta-analysis approaches, we identified 20 loci for kidney function and showed
important gains in uncovering functional variants within loci using diverse populations. The current proposal
seeks to provide important needed information to address the contribution of ancestry-specific variants to the
natural history of chronic kidney disease phenotypes in under-studied Hispanics/Latinos (Aim 1), by leveraging
the comprehensive longitudinal data in over 12,000 participants of the Hispanic Community Health Study/Study
of Latino. To identify novel genetic loci and underlying mechanisms that are relevant to all ancestries, we
propose to recruit additional studies to the COGENT-Kidney Consortium for an unprecedented trans-ethnic
meta-analysis of kidney traits, including a total of over 622,000 participants from diverse populations (East and
South Asian, Hispanic/Latino, African and African American, American Indian, and white) (Aim 2). We will
prioritize genes to test their functional role in in vitro experiments and mouse models of kidney injury (Aim 3).
Our results can provide important insight into genetic contributions to ethnic disparities in chronic kidney
disease risk and to inform on molecular mechanisms related to chronic kidney disease development.
Ultimately, this research could inform personalized medicine and improve the understanding and management
of kidney health and disease.

## Key facts

- **NIH application ID:** 9989844
- **Project number:** 5R01DK117445-03
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Nora Franceschini
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $543,234
- **Award type:** 5
- **Project period:** 2018-09-22 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9989844

## Citation

> US National Institutes of Health, RePORTER application 9989844, Genetics of kidney disease in diverse populations (5R01DK117445-03). Retrieved via AI Analytics 2026-06-11 from https://api.ai-analytics.org/grant/nih/9989844. Licensed CC0.

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