# Phenotypic and genetic architecture of OCD in African Americans

> **NIH NIH R01** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2024 · $859,577

## Abstract

Project Summary
Obsessive-compulsive disorder (OCD) is a life-long, serious psychiatric disorder that affects 2-3% of the
population and is associated with high personal and societal costs. Genetic factors are undoubtedly important in
the etiology in OCD, and associated loci and genes are just beginning to be discovered. Studies by us and by
others have shown that rare and ultra-rare variation, the latter including recent variation, plays an important role
in risk for OCD. In ongoing sequencing studies, we are identifying genes impacted by such variation, using
samples collected by the investigators in this application. In this proposal, we take an important new direction to
address a critical gap in OCD research by recruiting subjects of self-reported African ancestry (African-American;
AA), a group poorly represented in OCD research and not previously represented in OCD genetic research. In
fact, AA individuals with OCD are vastly underrepresented, or altogether absent, from treatment centers and
research studies, in spite of the evidence for 1) disparities in access to treatment, 2) persistent OCD due to lack
of treatment, and, 3) differences in OCD subtypes in AA populations, as well as, 4) Covid-19 pandemic amplified
mental-health disparities (including OCD and anxiety disorders). In this proposal, we will systematically
investigate the phenotypes of OCD in AA populations, and use high-throughput sequencing to identify rare single
nucleotide variation (SNV), insertions/deletions (indels), and structural variation (SV) contributing to OCD
susceptibility in this population. To further our understanding of OCD in AA populations we propose the following
Specific Aims: 1) To recruit at least 1,250 African American OCD participants and compare phenotypic findings
and genetic architecture across ancestries; and, 2) to carry out genetic association studies for ultra-rare variants
in the African American cohort and across ancestries. With this new research we will accelerate our overall
objective, which is the identification of OCD genes across diverse populations, thereby facilitating our long-term
goal of building the foundation from which therapeutic targets for OCD emerge. Our rationale is that the
identification of genes conferring significant risk to OCD and associated disorders can form the basis of studies
to understand pathogenesis, as well as the basis for novel therapies. Our central hypothesis – formulated based
on recent results – is that rare genetic variation contributes significantly to risk of OCD, with certain rare variants
conferring substantial risk. The research proposed is innovative, in our opinion, because it uses groundbreaking
and novel statistical methods for identifying risk variants for OCD in AA populations, involving a systematic effort
to investigate OCD genetic architecture across populations. The research will increase the number of known
OCD genes, expand our knowledge of networks and pathways that are disrupted in ...

## Key facts

- **NIH application ID:** 10859828
- **Project number:** 1R01MH136218-01
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** DOROTHY E GRICE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $859,577
- **Award type:** 1
- **Project period:** 2024-05-10 → 2029-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10859828

## Citation

> US National Institutes of Health, RePORTER application 10859828, Phenotypic and genetic architecture of OCD in African Americans (1R01MH136218-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10859828. Licensed CC0.

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