A large genomic study of nearly 275,000 people led by Penn Medicine researchers revealed new insights into genetic drivers of heavy drinking and alcohol use disorder (AUD), the uncontrollable pattern of alcohol use commonly referred to as alcoholism. In the largest-ever genome-wide association study of both traits in the same population, a team of researchers found 18 genetic variants of significance associated with either heavy alcohol consumption, AUD, or both. Interestingly, while five of the variants overlapped, eight were only associated with consumption and five with AUD only.
The findings, published in Nature Communications, suggest that, although heavy drinking is a prerequisite for AUD, variants in several genes—DRD2 and SIX3, for example—may need to be present for people to develop AUD.
“This study has revealed an important genetic independence of these two traits that we haven’t seen as clearly before,” says Henry R. Kranzler, a professor of psychiatry in the Perelman School of Medicine, and first author of the study. “Focusing on variants only linked to AUD may help identify people at risk and find targets for the development of medications to treat it. The same applies to alcohol consumption, as those variants could inform interventions to help reduce consumption in heavy drinkers, who face their own set of adverse effects.”
For the study, the researchers used genetic data from the multi-ethnic Million Veteran Program, a national, voluntary research program sponsored by the Department of Veterans Affairs, which includes white, African-American, Latino, and Asian participants. The diverse study sample is notable, in that it included more than 50,000 African-Americans, one of the largest genome-wide studies of this population.
Read more at Penn Medicine News.