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, Neil E Caporaso

Journal: PLoS genetics 2011;7(4):e1002033

PMID: 21490707

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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.

Address: Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, United States of America.

DOI: 10.1371/journal.pgen.1002033

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MeSH Terms: Adult, Aged, Caffeine, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 7, Cytochrome P-450 CYP1A2, Drinking Behavior, Female, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Quality Control, Receptors, Aryl Hydrocarbon, Sex Factors, United States, White People