29 gene variants may explain problem drinking. Now What?

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Those who have a solid recovery program from alcohol abuse will tell you, the problem is about choice. It’s about breaking through the denial they had on whether or not they had a problem, then changing playgrounds and playmates. Often that means giving up far more than your drug of choice and going much further than you ever thought you’d have to.

In some cases, it means completely reinventing yourself, from the ground up. And when those changes require letting go of your most important relationships, those with family members and life long friends, those who can’t make such choices often relapse. For this reason, when you talk to those in recovery you’ll frequently hear stories of multiple treatment centers before lasting sobriety is found. It’s not unusual to hear stories where gaining lasting sobriety required a divorce, a career change, permanent distance from parents, siblings, and one or more long-distance moves until success is achieved.

I know of some who have changed their names, not only to add a protective layer of anonymity to their new life but to symbolically represent the death of their former self who was powerless over this problem and the birth of the new self who is now free of the former problem. It’s about choices, about learning from past mistakes, and using that knowledge to make better choices going forward.

So how can the discovery of 19 new genetic alates or genetic markers, help if the problem is about choice? Everyone who has lasting sobriety will tell you that that first step, admitting they were powerless, was the most difficult. This is what J. Pinkerton, a friend of mine, told me, he continued to drink and drug for years because he believed he had complete control over when and how much he used. It was only after he lost everything important to him, his wife and kids, his career, home, hiding out in a half-way house that he finally, after 16 years, admitted to himself he had a problem.

Genetics is about probability, the more genetic markers you have for a disease or condition, the higher the probability. With 19 new genetic variants found, all linked to problematic drinking, the easier it will be for doctors to say, yes you have the disease or no you don’t. More importantly, in families with a history of substance abuse, we can identify at-risk individuals sooner and educate them from an early age that if they start down this path, they may never make it back before losing everything, maybe even their lives.

That’s why this study is so significant, that and the fact that it’s a large study with more than 435,000 individuals over a wide geographic setting. If this study can be repeated for other substance abused, we may finally have a tool kit for screening individuals at risk before they lose their lives to this disease.


A genome-wide analysis of more than 435,000 people has identified 29 genetic variants linked to problematic drinking, researchers at Yale University School of Medicine and colleagues report May 25 in the journal Nature Neuroscience.

“The new data triple the number of known genetic risk loci associated with problematic alcohol use,” said Yale’s Joel Gelernter, the Foundations Fund Professor of Psychiatry and professor of genetics and of neuroscience, who is the senior author of the multi-institutional study.

The study includes genome-wide analysis of people of European ancestry contained in four separate biobanks or datasets. The researchers looked for shared genetic variants among those who met criteria for problematic alcohol use, including alcohol use disorder and alcohol use with medical consequences. These disorders are major contributors to a wide variety of medical problems worldwide.

The analysis found 19 previously unknown independent genetic risk factors for problematic alcohol use, and confirmed 10 previously identified risk factors.

The meta-analysis of biobank data also included information on genetic risk factors for several psychiatric disorders. This information allowed researchers to study shared genetic associations between problematic drinking and disorders such as depression and anxiety.

They also found genetic heritability of these variants was enriched in the brain and in evolutionarily conserved regulatory regions of the genome, attesting to their importance in biological function. Using a technique called Mendelian randomization, they were able to investigate how one genetically influenced trait affects another genetically linked trait.

“This gives us ways to understand causal relations between problematic alcohol use traits such as psychiatric states, risk-taking behavior, and cognitive performance,” said Yale’s Hang Zhou, associate research scientist in psychiatry and lead author of the study.

“With these results, we are also in a better position to evaluate individual-level risk for problematic alcohol use,” Gelernter said.

Story Source:

Materials provided by Yale University. Original written by Bill Hathaway. Note: Content may be edited for style and length.

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