# Genetics of Frontotemporal Dementia in Diverse Cohort Enriched for Hispanic Patients

> **NIH NIH R03** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2020 · $153,500

## Abstract

PROJECT SUMMARY
 Frontotemporal dementia (FTD) is often described as an Alzheimer disease (AD) related dementia due to
clinical, pathological and genetic overlap. Genetic research has identified several genes contributing to FTD
pathogenesis. However, these genes do not explain disease in many familial and sporadic FTD cases and are
mostly identified in non-Hispanic white (NHW) populations; indicating a clear gap in our knowledge of underlying
genetic factors, especially in diverse population groups. Recent research in AD has identified disease variants
and/or variant effects specific to certain population groups (e.g. ABCA7 deletions in African Americans (AA)5 and
reduced APOEɛ4 effect on African background in AA6 and Hispanic (HI) patients (Rajabli et al, under review),
warranting research in these diverse populations to assess the full disease variant spectrum. The
underrepresentation of HI and AA in biomedical research also represents a major source of health disparity.
Additionally, a recent study in the large AD Sequencing Project (ADSP) consortium indicated contribution of FTD
known disease genes in a portion of adjudicated AD cases, supporting a true genetic overlap between two
disorders. Taken together, these data suggest missing data on potentially shared genetic factors and warrant
further analyses of FTD genes in FTD and AD cohorts, especially those encompassing HI patients.
 To assess the contribution of known FTD disease genes and identify novel FTD disease variants in diverse
populations of FTD and AD patients, we will complete the following aims: (1) we will establish a local Miami FTD
cohort representative of the population proportions in Miami. This Caribbean enriched cohort will have a wide
variety of different levels of ancestral contribution (European, African or American Indian), allowing it to inform
on variants in those backgrounds. (2) We will perform GSA genotyping and imputation to obtain data on known
FTD variants in the local diverse cohort. Local ancestry across these loci will be determined and variant
frequencies in cases will be compared to controls (derived from ADSP/FUS efforts) within population group and
within ancestral origin of the variant. (3) We will perform whole genome sequencing in FTD families, prioritizing
HI patients and families with early onset disease, and perform sharing analyses to identify novel disease variants.
Identified variants of interest will be screened in the remainder of the patients and in collaborative HI FTD cohorts
(UCSF, Miller). Additionally, we will extract these novel variant positions from already available data in
ADSP/FUS cohorts; including Puerto Rican, Peruvian and African American datasets, to assess genetic overlap
with AD.
 This proposal will leverage all genomic expertise, pipelines and data that are available through the
ADSP/FUS consortium efforts, extending on the analyses already performed within the ADSP datasets and
expanding the utility of the data generated w...

## Key facts

- **NIH application ID:** 9924496
- **Project number:** 5R03AG063271-02
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** KAREN NUYTEMANS
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $153,500
- **Award type:** 5
- **Project period:** 2019-05-01 → 2021-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9924496

## Citation

> US National Institutes of Health, RePORTER application 9924496, Genetics of Frontotemporal Dementia in Diverse Cohort Enriched for Hispanic Patients (5R03AG063271-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9924496. Licensed CC0.

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