Genome-Wide Meta-Analysis Identifies Regions on 7p21 (AHR) and 15q24 (CYP1A2) As Determinants of Habitual Caffeine Consumption

Marilyn C Cornelis, Keri L Monda, Kai Yu, Nina Paynter, Elizabeth M Azzato, Siiri N Bennett, Sonja I Berndt, Eric Boerwinkle, Stephen Chanock, Nilanjan Chatterjee, David Couper, Gary Curhan, Gerardo Heiss, Frank B Hu, David J Hunter, Kevin Jacobs, Majken K Jensen, Peter Kraft, Maria Teresa Landi, Jennifer A Nettleton, Mark P Purdue, Preetha Rajaraman, Eric B Rimm, Lynda M Rose, Nathaniel Rothman, Debra Silverman, Rachael Stolzenberg-Solomon, Amy Subar, Meredith Yeager, Daniel I Chasman, Rob M van Dam and Neil E Caporaso

PLOS Genetics, 2011, vol. 7, issue 4, 1-9

Abstract: We report the first genome-wide association study of habitual caffeine intake. We included 47,341 individuals of European descent based on five population-based studies within the United States. In a meta-analysis adjusted for age, sex, smoking, and eigenvectors of population variation, two loci achieved genome-wide significance: 7p21 (P = 2.4×10−19), near AHR, and 15q24 (P = 5.2×10−14), between CYP1A1 and CYP1A2. Both the AHR and CYP1A2 genes are biologically plausible candidates as CYP1A2 metabolizes caffeine and AHR regulates CYP1A2. Author Summary: Caffeine is the most widely consumed psychoactive substance in the world. Although demographic and social factors have been linked to habitual caffeine consumption, twin studies report a large heritable component. Through a comprehensive search of the human genome involving over 40,000 participants, we discovered two loci associated with habitual caffeine consumption: the first near AHR and the second between CYP1A1 and CYP1A2. Both the AHR and CYP1A2 genes are biologically plausible candidates, as CYP1A2 metabolizes caffeine and AHR regulates CYP1A2. Caffeine intake has been associated with manifold physiologic effects and both detrimental and beneficial health outcomes. Knowledge of the genetic determinants of caffeine intake may provide insight into underlying mechanisms and may provide ways to study the potential health effects of caffeine more comprehensively.

Date: 2011
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1002033

DOI: 10.1371/journal.pgen.1002033

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