# A Genome Wide Association Study of Severe Alcohol Use Disorder

> **NIH NIH R01** · VIRGINIA COMMONWEALTH UNIVERSITY · 2021 · $633,611

## Abstract

Alcohol Use Disorder (AUD) is substantially heritable syndrome with high public-health impact the etiology of
which remains poorly understood. Over the last decade, genome-wide association studies (GWAS) have been
successfully applied to an increasing number of complex biomedical and neuropsychiatric syndromes leading
to important insights into biological causal pathways. Results have uniformly shown these disorders to be
higher polygenic with small effect-size risk variants. However, progress in the molecular genetic dissection of
AUD has been slow due to lack of adequate sample sizes of well-characterized severely ill cases. In response
to this concern, NIAAA issued on 4/3/17 NOT-AA-17-002 “Submission of Applications Containing Genome-
Wide Association Studies.” This proposal was designed to meet the goals laid out by NIAAA in this
announcement. Because of low recruitment costs, the viability of which have been tested by pilot studies, we
can, within the confines of an R0-1 budget, assess and genotype 12,000 cases of severe DSM-5 AUD.
However, this application should not be viewed as only a “stand-alone” project, but as part of NIAAA’s plan to
combine results across multiple studies funded under this initiative and ongoing efforts of the Psychiatric
Genomics Consortium (PGC) to gain sufficient aggregate sample size for molecular analysis. Assessment of
complete DSM-5 criteria for AUD, associated key co-morbidities (depression, drug abuse, antisocial
personality) and other risk factors (e.g. personality) will be performed by an avatar aided tablet/web program.
We will collect a severe and ethnically diverse sample from two clinical data collection networks (Hazelden-
Betty Ford and Baltimore Treatment Network) and via the web from the Faces and Voices of Recovery.
Scientific aims include i) identification, from public sources, of ethnically matched screened alcohol-exposed
controls with GWAS, ii) complete imputation and quality control checks of genotype data, iii) performance of
GWAS analyses of each super-population and a meta-analysis across ethnic samples, iv) establishment of
collaborative links with the PGC and other NIAAA projects to implement cross-samples analyses, v)
performance of gene and geneset analyses to seek further insights into risk pathways to AUD, vi) examination
of phenotypic heterogeneity within AUD using our rich measures of symptomatology, personality, and
comorbidity and attempted molecular validation of these subtypes and vii) use of polygenic risk scores (with
our study serving as both a test and training sample) and genetic correlations to better understand the
commonality of genetic risk between AUD and other key psychiatric and substance using disorders. With this
and parallel similar projects, sufficient sample sizes of AUD cases and associated controls will be ascertained
to identify risk SNPs, trace these to their relevant risk genes and use these aggregate findings to provide
insight into biological etiologic p...

## Key facts

- **NIH application ID:** 10226371
- **Project number:** 5R01AA026750-04
- **Recipient organization:** VIRGINIA COMMONWEALTH UNIVERSITY
- **Principal Investigator:** KENNETH SEEDMAN KENDLER
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $633,611
- **Award type:** 5
- **Project period:** 2018-09-01 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10226371

## Citation

> US National Institutes of Health, RePORTER application 10226371, A Genome Wide Association Study of Severe Alcohol Use Disorder (5R01AA026750-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10226371. Licensed CC0.

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