Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants.

ABSTRACT:

Aims

The study aimed to identify specific genes and functional genetic variants affecting susceptibility to two alcohol-related phenotypes: heavy drinking and problem drinking.

Methods

Phenotypic 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.

Results

Of exome sequenced subjects, for heavy drinking, there were 8166 cases and 84,461 controls, while for problem drinking, the

SUBMITTER: Curtis D 

PROVIDER: S-EPMC9270990 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature