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Whole exome sequencing analysis identifies genes for alcohol consumption
Jujiao Kang1,2, Yue-Ting Deng3, Bang-Sheng Wu3
1Institute of Science and Technology for Brain-Inspired Intelligence (ISTBI), Fudan University, Shanghai, 200433, China.
Nature Communications
|July 9, 2024
Summary
This study identified rare genetic variants linked to alcohol consumption in over 300,000 individuals. These findings shed light on the genetic basis of alcohol use and its health implications.
Area of Science:
- Genetics
- Neuroscience
- Public Health
Background:
- Alcohol consumption is a heritable behavior with significant health risks.
- Previous genetic studies on alcohol consumption have largely overlooked rare coding variants.
Purpose of the Study:
- To identify protein-coding variants associated with alcohol consumption using whole exome sequencing data.
- To explore the biological mechanisms and health implications of genetic factors influencing alcohol consumption.
Main Methods:
- Whole exome sequencing data from 304,119 white British individuals in the UK Biobank were analyzed.
- Single variant and gene-based analyses were performed to identify associated variants and genes.
- Phenome-wide association analyses were conducted to explore associations with various health outcomes.
Main Results:
- Twenty-five variants and thirteen genes were associated with alcohol consumption.
- Ten of the identified genes, including GIGYF1 and ANKRD12, were newly reported.
- Newly identified genes are enriched in brain function pathways and expressed in the cerebellum.
- Associated genes showed links to brain white matter integrity and risks of digestive and neuropsychiatric diseases.
Conclusions:
- This study expands the understanding of the genetic architecture of alcohol consumption by highlighting the role of rare coding variants.
- The findings suggest potential biological mechanisms, particularly involving brain function, underlying alcohol-related adverse health outcomes.
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