# Whole genome sequencing of the Mexican Health Aging Study (MHAS) cohort

> **NIH NIH R56** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $1,636,098

## Abstract

Abstract
We aim to conduct traditional and innovative genetic analyses of whole-genome sequencing (WGS) data
generated from a sub-sample of 3,500 participants from the Mexican Health Aging Study (MHAS). We have
already been funded to collect saliva for DNA extraction and to perform genome-wide a association study in this
Mexican sample (grant # R56-AG059756, PI: Tosto, Barral, Mayeux).
Accumulating evidence supports a strong genetic component underpinning physiopathology of Late onset
Alzheimer’s disease (LOAD). European population studies still dominate the pool of available genomic data
resulting in a lack of generalizability of findings across diverse and minority populations. By 2020, the prevalence
of dementia in Latin America will increase by 120%, compared to 49% in North America. It is therefore pivotal to
increase representation of Hispanics and Latinos in genetic investigations. Mexicans are not currently
represented in large genetic studies for LOAD. They show a unique genetic profile with one of the highest Native-
American ancestral component percentages (~50%). This population may harbor unique LOAD risk/protective
alleles, which are rare or absent in other populations. Furthermore, it may shed lights on the contribution of native
ancestry on LOAD risk, which is still unknown.
Our group has so far collected 9,162 saliva and blood samples from MHAS participants aged 60 and older and
stored them at National Cell Repository for Alzheimer’s Disease (NCRAD). MHAS also provides a rich set of
phenotypes (demographical, cognitive and medical assessment) with 20-years period of follow-up. The
participants that will undergo whole genome sequencing (N~3,500 who meet clinical criteria for dementia and
cognitively healthy; ratio 1:4) are characterized by an additional in-depth cognitive evaluation for which we have
been already funded. The availability of extensive cognitive endophenotypes will facilitate a plethora of
investigations beyond the classical case-control design (i.e. survival analyses and cognitive trajectories); it will
ensure the accuracy of LOAD diagnosis, and will facilitate phenotype harmonization across different sequencing
cohorts.
We propose to: Aim 1) conduct traditional and innovative analysis of the whole genome sequence data generated
in a sub-sample of 3,500 MHAS participants 60 years of age or older who meet diagnostic criteria for LOAD and
healthy controls (ratio ~1:4); Aim 2) Conduct functional validation of genomic findings prioritized by WGS
analyses; Aim 3) Share phenotypic and genomic data with the scientific community.

## Key facts

- **NIH application ID:** 10228341
- **Project number:** 1R56AG066889-01
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Sandra Barral Rodriguez
- **Activity code:** R56 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,636,098
- **Award type:** 1
- **Project period:** 2020-09-15 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10228341

## Citation

> US National Institutes of Health, RePORTER application 10228341, Whole genome sequencing of the Mexican Health Aging Study (MHAS) cohort (1R56AG066889-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10228341. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*