# Leveraging ancestry to map kidney loci

> **NIH NIH R01** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2020 · $710,404

## Abstract

ABSTRACT
Chronic kidney disease is a progressive and heterogeneous condition that affects 10% of individuals
worldwide, and a cause of premature cardiovascular disease and death. Little is known about the mechanisms
leading to its development and predisposition. Despite the strong evidence for a role of ancestry in chronic
kidney disease susceptibility, few studies have leveraged ancestry for gene discovery. Hispanics are an
understudied minority group that is comprised of many overlapping ancestral groups (Amerindian, West
African, European). Hispanics have a high prevalence of increased albuminuria and end-stage renal disease,
which has been associated with their Amerindian ancestry. We propose to identify ancestry-specific loci, and
their corresponding rare and common genetic variants, that explain the higher susceptibility for chronic kidney
disease in Hispanics. We will use novel admixture mapping approaches to map genomic segments and
variants inherited from the ancestral population with the higher disease variant frequency (Aim 1), followed by
fine-mapping and validation of associations in ancestry-specific cohorts (Hispanics, American Indians,
European and West Africa ancestries) (Aim 2). We will leverage data from the large population-based Hispanic
Community Health Study/Study of Latinos for gene discovery, and propose to fine-map Amerindian loci using a
combination of genotyping and targeted sequencing. To gain insights into the functional roles of identified
genes, we will prioritize variants for experiments using in vitro and mouse model systems for transgenic and
gene targeting studies (Aim 3). This proposal leverages ancestry to identify loci for kidney traits in Hispanics,
and uniquely complement large ongoing genome wide association approaches. Our results will provide clues
to racial/ethnic disparities in disease risk, and improve understanding of the biological pathways leading to
chronic kidney disease. Ultimately this research could inform personalized medicine and improve public health.

## Key facts

- **NIH application ID:** 9928748
- **Project number:** 5R01MD012765-04
- **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:** $710,404
- **Award type:** 5
- **Project period:** 2017-09-24 → 2022-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9928748

## Citation

> US National Institutes of Health, RePORTER application 9928748, Leveraging ancestry to map kidney loci (5R01MD012765-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9928748. Licensed CC0.

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