Observational studyAlcoholism, clinical and experimental research2017
Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B.
Observational study in Alcoholism, clinical and experimental research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Association Between GABRG2 and Self-Rating of the Effects of Alcohol in a French Young Adult Sample.Risk management and healthcare policy · 2025Article
- Epigenome-wide association study of alcohol consumption in N = 8161 individuals and relevance to alcohol use disorder pathophysiology: identification of the cystine/glutamate transporter SLC7A11 as a top target.Molecular psychiatry · 2022Article
- DNA methylation signature on phosphatidylethanol, not on self-reported alcohol consumption, predicts hazardous alcohol consumption in two distinct populations.Molecular psychiatry · 2021Article
- Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues.Scientific reports · 2020Article
- Differentiating Types of Self-Reported Alcohol Abstinence.AIDS and behavior · 2020Article
- Using DNA methylation to validate an electronic medical record phenotype for smoking.Addiction biology · 2019Observational
- Salivary microRNAs identified by small RNA sequencing and machine learning as potential biomarkers of alcohol dependence.Epigenomics · 2019Article
- Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.Nature communications · 2019Article
- Longitudinal Drinking Patterns and Their Clinical Correlates in Million Veteran Program Participants.Alcoholism, clinical and experimental research · 2019Article
- AUDIT-C and ICD codes as phenotypes for harmful alcohol use: association with ADH1B polymorphisms in two US populations.Addiction (Abingdon, England) · 2018Article
- Alcohol and Mortality: Combining Self-Reported (AUDIT-C) and Biomarker Detected (PEth) Alcohol Measures Among HIV Infected and Uninfected.Journal of acquired immune deficiency syndromes (1999) · 2018Article
- Racial/ethnic differences in the association between alcohol use and mortality among men living with HIV.Addiction science & clinical practice · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAlthough 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.
methodsFirst, using longitudinal AUDIT-C data from the Veterans Aging Cohort Biomarker Study Cohort (VACS-BC), we compared 3 metrics of AUDIT-C using correlation coefficients: (i) AUDIT-C closest to blood sampling (closest AUDIT-C), (ii) the highest value (highest AUDIT-C), (iii) and longitudinal trajectories generated using joint trajectory modeling (AUDIT-C trajectory). Second, we compared the associations of the 3 AUDIT-C metrics with phosphatidylethanol (PEth), a direct, quantitative biomarker for alcohol in the overall sample using chi-square tests for trend. Last, in the subsample of African Americans (AAs; n = 1,503), we compared the associations of the 3 AUDIT-C metrics with rs2066702 a common missense (Arg369Cys) polymorphism of the ADH1B gene, which encodes an alcohol dehydrogenase isozyme.
resultsThe sample (n = 1,851, 94.5% male, 65% HIV+, mean age 52 years) had a median of 7 AUDIT-C scores over a median of 6.1 years. Highest AUDIT-C and AUDIT-C trajectory were correlated r = 0.86. The closest AUDIT-C was obtained a median of 2.26 years after the VACS-BC blood draw. Overall and among AAs, all 3 AUDIT-C metrics were associated with PEth (all p < 0.05), but the gradient was steepest with AUDIT-C trajectory. Among AAs (36% with the protective ADH1B allele), the association of rs2066702 with AUDIT-C trajectory and highest AUDIT-C was statistically significant (p < 0.05), and the gradient was steeper for the AUDIT-C trajectory than for the highest AUDIT-C. The closest AUDIT-C was not statistically significantly associated with rs2066702.
conclusionsEHR data can be used to identify complex phenotypes such as harmful alcohol use. The validity of the phenotype may be enhanced through the use of longitudinal trajectories.
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