ArticleAlcohol and alcoholism (Oxford, Oxfordshire)2022
Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants.
Article in Alcohol and alcoholism (Oxford, Oxfordshire), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Genetic associations between orexin genes and phenotypes related to behavioral regulation in humans, including substance use.Molecular psychiatry · 2025Article
- Rare and common variants associated with alcohol consumption identify a conserved molecular network.Alcohol, clinical & experimental research · 2024Article
- Rare and Common Variants Associated with Alcohol Consumption Identify a Conserved Molecular Network.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
aimsThe study aimed to identify specific genes and functional genetic variants affecting susceptibility to two alcohol-related phenotypes: heavy drinking and problem drinking.
methodsPhenotypic and exome sequence data were downloaded from the UK Biobank. Reported drinks in the last 24 hours were used to define heavy drinking, while responses to a mental health questionnaire defined problem drinking. Gene-wise weighted burden analysis was applied, with genetic variants which were rarer and/or had a more severe functional effect being weighted more highly. Additionally, previously reported variants of interest were analysed inidividually.
resultsOf exome sequenced subjects, for heavy drinking, there were 8166 cases and 84,461 controls, while for problem drinking, there were 7811 cases and 59,606 controls. No gene was formally significant after correction for multiple testing, but three genes possibly related to autism were significant at P < 0.001, FOXP1, ARHGAP33 and CDH9, along with VGF which may also be of psychiatric interest. Well established associations with rs1229984 in ADH1B and rs671 in ALDH2 were confirmed, but previously reported variants in ALDH1B1 and GRM3 were not associated with either phenotype.
conclusionsThis large study fails to conclusively implicate any novel genes or variants. It is possible that more definitive results will be obtained when sequence data for the remaining UK Biobank participants become available and/or if data can be obtained for a more extreme phenotype such as alcohol dependence disorder. This research has been conducted using the UK Biobank Resource.
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Registered trials
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