GWAS Study Bolsters Links Between Genome and Caffeine Consumption


Caffeine is often cited as the most commonly used drug in the world, enjoyed by billions each morning through tea or coffee to start their days. More than 90 percent of Americans consume caffeine daily, often more than once per day. But why do some drink cup after cup of caffeinated beverages while others avoid caffeine entirely?

New research from the Coriell Institute for Medical Research bolsters the links between one’s genetics and caffeine consumption and identifies areas of the genome where genetic variations may cause variations in consumption. Titled “Genome-wide Association Study of Caffeine Consumption Using Coriell Personalized Medicine Collaborative Data,” the article detailing these results was published last month in Genetics & Molecular Medicine.

“Caffeine’s near-universal popularity and its potential health benefits and risks make its consumption a crucial area of study,” said Dara Kusic, PhD, a Bioinformatics Research Scientist at Coriell Institute for Medical Research and this paper’s lead author. “Our work backstops previously understood genetic connections to coffee consumption and unveiled new connections deserving additional study. The more we know about this link, the better we can make decisions about consumption habits and our health.”

For this study, scientists from Coriell utilized data from the Coriell Personalized Medicine Collaborative (or CPMC), a long-standing personalized medicine study in which thousands of volunteers submitted DNA for analysis and answered wide-ranging questionnaires about health behaviors, including dietary habits.

Through a genome-wide association study (or GWAS), Coriell researchers located several points on the genome associated with caffeine consumption, including one variation whose association with caffeine consumption has been previously identified in other studies. This variation is located in an intergenic region, or a region on a chromosome between genes, between the genes CYP1A1 and CYP1A2, both located on chromosome 15. These genes are known to produce enzymes involved in the metabolization of caffeine and other components of coffee.

Co-authors include Stefan C. Zajic, Neda Gharani, Erynn S. Gordon, Tara Schmidlen, Pan Zhang, and Norman Gerry, all of whom have collaborated on the Coriell Personalized Medicine Collaborative. Laura Scheinfeldt, an Associate Professor and Director of Repository Science at Coriell, served as the paper’s senior author.

This study was funded in part by the United States Air Force Cooperative Agreement FA8650-14-2-6533.

About the Coriell Institute for Medical Research

Founded in 1953, the Coriell Institute for Medical Research is a nonprofit research institute dedicated to improving human health through biomedical research. Coriell scientists lead research in personalized medicine, cancer biology, epigenetics, and the genomics of opioid use disorder. Coriell also hosts one of the world's leading biobanks—comprised of collections for the National Institutes of Health, disease foundations and private clients—and distributes biological samples and offers research and biobanking services to scientists around the globe. To facilitate drug discovery and disease study, the Institute also develops and distributes collections of induced pluripotent stem cells. For more information, visit

Other News