Unraveling the Genetics of Alcoholism: Recent Discoveries Are Paving the Way to Improved Detection, Prevention, and Treatment Strategies for Alcoholism and Other Forms of Substance Abuse
Perry, Patrick, The Saturday Evening Post
an interview with John Nurnberger, M.D., Ph.D.
We've come a long way in understanding the cunning, baffling disease known as alcoholism, and 12-step programs have helped millions of men and women recover.
Historically, alcoholic behavior was blamed on a character flaw or weakness of will. After all, couldn't people stop drinking if they really wanted to? While the stigma surrounding alcoholism continues, scientists have gained considerably more insight into how genes and environment interact to affect vulnerability to alcoholism--knowledge that is key to reducing the disease's exacting toll on individuals, families, and society.
As more genes are linked to the development of alcohol dependence and substance abuse, the findings will prove useful in developing tools for better gauging individual risk for the disease and identifying those with alcohol problems. Emerging genetic and environmental insights have also paved the way to the discovery of new therapies targeting specific genes or treatments tailored to individual backgrounds.
The Post spoke with John Nurnberger, M.D., Ph.D., director of the Institute of Psychiatric Research at Indiana University School of Medicine and a leading researcher on the genetics of alcoholism for decades.
Post: Could you tell us about your work with the Collaborative Study on the Genetics of Alcoholism (COGA), and how alcoholics and family members have helped?
Dr. Nurnberger: COGA is a study that has been continuously supported and funded by the National Institute on Alcohol Abuse and Alcoholism (NIAAA) starting in 1989. Drs. Henri Begleiter from the State University of New York and Ted Reich at Washington University in St. Louis helped launch and direct the initial study, which involved six sites around the country: University of California San Diego, University of Iowa, University of Connecticut, SUNY Downstate Medical Center in Brooklyn, Washington University in St. Louis, and Indiana University in Indianapolis.
For the past 18 years, we have collaborated to identify families through persons diagnosed with alcohol dependence located at treatment facilities. Once we identified the individual, we would obtain permission to contact relatives of the person to discuss diagnoses in the extended family. We would then perform a brain wave study and take blood for DNA analysis.
In this way COGA established a huge database of information on 12,000 persons across the country. We organized the information to illuminate conditions that surfaced in families with a vulnerability to alcohol dependence and also to uncover the relationship of the brain electrical activity and DNA markers to those conditions.
Our group published a number of reports on findings from this sample over the years. We found that a variety of conditions go along with alcohol dependence in families, including dependence on various drugs--marijuana, opiates, tobacco, stimulants, and sedatives. We also noted that a constellation of anxiety and depressive disorders tend to cluster with alcohol problems.
In addition, we observed particular electrical activity signatures in the brain and specific single genes, such as those coding for GABRA2 (a receptor for a transmitter chemical that inhibits other signals), ADH4 (which breaks down alcohol in the body), and CHRM2 (another brain transmitter receptor).
COGA remains very active in various ways: one, we're looking for additional genes in the families we have been studying; and two, we identified adolescents in these families and are following them over time. This is a special high-risk population, and we're trying to determine risk and protective factors that impact young people growing up in families with multiple alcohol-dependent relatives. We are now at a point where some young people in the group are experiencing problems with alcohol but others are not, providing insights into how genes interact with family experience. …