A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder.

ABSTRACT:

Background

Alcohol use disorder (AUD) runs in families and is accompanied by genetic variation. Some families exhibit an extreme susceptibility in which multiple cases are found and often with an early onset of the disorder. Large scale genome-wide association studies have identified several genes with impressive statistical probabilities. Most of these genes are common variants. Our goal was to perform exome sequencing in families characterized by multiple cases (multiplex families) to determine if rare variants might be segregating with disease status.

Methods

A case-control approach was used to leverage the power of a large control sample of unrelated individuals (N = 8,983) with exome sequencing [Institute for Genomic Medicine (IGM)], for comparison with probands

SUBMITTER: Hill SY 

PROVIDER: S-EPMC10616827 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature