# Psychiatric Genomics Consortium for PTSD

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2023 · $683,564

## Abstract

Project Summary
Psychiatric Genomics Consortium for PTSD
 Posttraumatic stress disorder (PTSD) occurs only in vulnerable individuals after exposure to severe
traumatic events. This risk is due, in part, to 40-50% heritability of differential vulnerability. Due to increasing
collaborations across the field of PTSD genomics and the advent of new analytical tools, it is a very exciting
time for PTSD genetic risk discovery. The purpose of this application is to facilitate meta-analyses of genome-
wide association study (GWAS) data for symptoms and diagnosis of PTSD.
 We propose to conduct large-scale meta-analyses through the PTSD group of the Psychiatric Genomics
Consortium (PGC). The PGC was created in 2007 to conduct field-wide mega-analyses of individual data for 5
major psychiatric disorders. With its current 11 working groups, it is the largest consortium (>800 scientists
from 40 countries) in the history of psychiatry. The PGC has produced major findings with regard to the genetic
architecture of psychiatric disorders. Meta-analyses of GWAS have produced over 100 loci at the genome-
wide significance threshold, at sample sizes ranging from 36,000 cases for schizophrenia to 246K cases for
depression. The polygenic architecture inferred from family studies was confirmed with molecular evidence.
Corroborating findings from twin studies, shared genetic contributions among psychiatric disorders has been
found. The PGC-PTSD group was launched in 2013 and has been enormously successful. Currently our multi-
ethnic data collection includes genotypes from 60 studies with a total N of over 200K combined cases and
trauma-exposed controls. We recently identified 6 genome-wide significant loci and generated a polygenic risk
score to identify individuals at highest risk for PTSD after trauma exposure.
 We hypothesize that with an increased sample size and deeper phenotype characterization, the PGC-
PTSD will accelerate our current understanding of the genetic architecture of PTSD. Our progress thus far
demonstrates feasibility and initial successes of the proposed work. Aim 1 will increase sample size (with
commitments for 50K additional cases and 300K controls from banked samples) to reach the PGC goal of
100K cases for psychiatric disorders, create psychometrically optimized PTSD subphenotypes, conduct GWAS
meta-analyses to detect novel common variants, and identify copy-number variants (CNVs) hypothesized to
contribute to PTSD heritability through rare and low-frequency CNVs. This aim will be supplemented by the
contribution of diverse ancestry groups to ensure that advances in our genetic understanding of PTSD extend
across ancestral backgrounds in Aim 2. Aim 3 is centered around the characterization of functional
consequences of identified variants. Lastly, we will use polygenic risk scores (PRS) to provide insights into
relationships to other traits and advance causal inference in Aim 4. Identifying the genetic pathways underlying
PTSD will lead to im...

## Key facts

- **NIH application ID:** 10663085
- **Project number:** 5R01MH106595-08
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** KARESTAN C KOENEN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $683,564
- **Award type:** 5
- **Project period:** 2016-08-19 → 2024-07-24

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10663085

## Citation

> US National Institutes of Health, RePORTER application 10663085, Psychiatric Genomics Consortium for PTSD (5R01MH106595-08). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10663085. Licensed CC0.

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