AI Article Synopsis

  • * Utilizing data from over 304,000 individuals, researchers identified 25 variants and 13 genes related to alcohol consumption, including two previously unrecognized genes, GIGYF1 and ANKRD12.
  • * The findings highlight the genes' involvement in brain function pathways and suggest connections between alcohol consumption and various health issues, such as brain integrity and gastrointestinal and mental health diseases.

Article Abstract

Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking. Here we leverage whole exome sequencing data across 304,119 white British individuals from UK Biobank to identify protein-coding variants associated with alcohol consumption. Twenty-five variants are associated with alcohol consumption through single variant analysis and thirteen genes through gene-based analysis, ten of which have not been reported previously. Notably, the two unreported alcohol consumption-related genes GIGYF1 and ANKRD12 show enrichment in brain function-related pathways including glial cell differentiation and are strongly expressed in the cerebellum. Phenome-wide association analyses reveal that alcohol consumption-related genes are associated with brain white matter integrity and risk of digestive and neuropsychiatric diseases. In summary, this study enhances the comprehension of the genetic architecture of alcohol consumption and implies biological mechanisms underlying alcohol-related adverse outcomes.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233704PMC
http://dx.doi.org/10.1038/s41467-024-50132-3DOI Listing

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