PLoS Genetics (Apr 2011)

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

DOI
https://doi.org/10.1371/journal.pgen.1002033
Journal volume & issue
Vol. 7, no. 4
p. e1002033

Abstract

Read online

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.