# Integrating case-control transcriptomic and genetic data in admixed individuals to identify disease genes for schizophrenia and bipolar disorder

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2024 · $509,089

## Abstract

PROJECT SUMMARY
Genome-wide association studies (GWAS) have identified hundreds of genomic loci that increase disease
susceptibility for schizophrenia (SCZ) and bipolar disorder (BP). We and others have shown that integration of
functional molecular data, including transcript abundance levels, can be used to decipher causal insights from
GWAS-identified allelic variant to gene to disease susceptibility. The identification of genetic risk factors and
causal interpretations provide the greatest potential for the future of personalized genomic medicine. These
studies and advances, however, have mostly been performed in individuals of European ancestry, thereby
exacerbating health disparities of most vulnerable populations of diverse and admixed genetic ancestries. At this
time, NIMH is leading the effort for genetic discoveries in underrepresented populations through funding of large-
scale GWAS projects of SCZ and BP, but it is necessary to simultaneously increase the genetic diversity of
functional molecular data for data integration and deciphering causal biological effects involved in SCZ and BP.
We will tackle the lack of diversity in integrative transcriptomic studies for the deciphering of genetic susceptibility
of SCZ and BP in Latino admixed populations, through deliberate integration of novel statistical method
development with new transcriptomic data generation. We will generate transcriptome data in 1,500 Latino
individuals (500 SCZ cases, 500 BP cases, 500 controls) as a public resource to generate new insights about
the molecular mechanisms that contribute to risk of SCZ and BP. At the same time, we will develop new statistical
methods that leverage the admixture process to improve the power of mapping genetic effects on expression in
Latino individuals. We will incorporate the local and global genetic ancestries within admixed individuals to
increase power of transcriptome-wide association (TWAS) and expression quantitative trait score (eQTS) studies
to identify novel susceptibility genes. We will integrate new transcriptomic data in Latino individuals with ongoing
Latino GWAS of SCZ and BP involving tens of thousands of Latino individuals both to generate new biological
hypotheses and to validate our new statistical methods. The most promising causal variants and susceptibility
genes will undergo functional validation. Our efforts will result in a large public gene expression resource, novel
statistical tools, and new biological findings validated in functional assays. Our findings may yield clinically
relevant applications for diagnosis and treatment for SCZ and BP particularly in Latino individuals that have been
traditionally underserved in large-scale genomic studies.

## Key facts

- **NIH application ID:** 10823316
- **Project number:** 5R01MH115676-07
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Roel A Ophoff
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $509,089
- **Award type:** 5
- **Project period:** 2018-04-06 → 2028-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10823316

## Citation

> US National Institutes of Health, RePORTER application 10823316, Integrating case-control transcriptomic and genetic data in admixed individuals to identify disease genes for schizophrenia and bipolar disorder (5R01MH115676-07). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10823316. Licensed CC0.

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