Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B.

ABSTRACT:

Background

Although alcohol risk is heritable, few genetic risk variants have been identified. Longitudinal electronic health record (EHR) data offer a largely untapped source of phenotypic information for genetic studies, but EHR-derived phenotypes for harmful alcohol exposure have yet to be validated. Using a variant of known effect, we used EHR data to develop and validate a phenotype for harmful alcohol exposure that can be used to identify unknown genetic variants in large samples. Herein, we consider the validity of 3 approaches using the 3-item Alcohol Use Disorders Identification Test consumption measure (AUDIT-C) as a phenotype for harmful alcohol exposure.

Methods

First, using longitudinal AUDIT-C data from the Veterans Aging Cohort Biomarker Study Cohort (VACS-BC)

SUBMITTER: Justice AC 

PROVIDER: S-EPMC5501250 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature