IDEAS home Printed from https://ideas.repec.org/a/plo/pgen00/1002033.html
   My bibliography  Save this article

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

Author

Listed:
  • 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

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.

Suggested Citation

  • 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, 2011. "Genome-Wide Meta-Analysis Identifies Regions on 7p21 (AHR) and 15q24 (CYP1A2) As Determinants of Habitual Caffeine Consumption," PLOS Genetics, Public Library of Science, vol. 7(4), pages 1-9, April.
    • Handle: RePEc:plo:pgen00:1002033
    DOI: 10.1371/journal.pgen.1002033
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002033
    Download Restriction: no
    File URL: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002033&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pgen.1002033?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. John PA Ioannidis & Nikolaos A Patsopoulos & Evangelos Evangelou, 2007. "Heterogeneity in Meta-Analyses of Genome-Wide Association Investigations," PLOS ONE, Public Library of Science, vol. 2(9), pages 1-7, September.
    2. Catherine Ledent & Jean-Marie Vaugeois & Serge N. Schiffmann & Thierry Pedrazzini & Malika El Yacoubi & Jean-Jacques Vanderhaeghen & Jean Costentin & John K. Heath & Gilbert Vassart & Marc Parmentier, 1997. "Aggressiveness, hypoalgesia and high blood pressure in mice lacking the adenosine A2a receptor," Nature, Nature, vol. 388(6643), pages 674-678, August.
    Full references (including those not matched with items on IDEAS)

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Ariane Mbemi & Sunali Khanna & Sylvianne Njiki & Clement G. Yedjou & Paul B. Tchounwou, 2020. "Impact of Gene–Environment Interactions on Cancer Development," IJERPH, MDPI, vol. 17(21), pages 1-15, November.
    2. Merete Ellingjord-Dale & Nikos Papadimitriou & Michail Katsoulis & Chew Yee & Niki Dimou & Dipender Gill & Dagfinn Aune & Jue-Sheng Ong & Stuart MacGregor & Benjamin Elsworth & Sarah J Lewis & Richard, 2021. "Coffee consumption and risk of breast cancer: A Mendelian randomization study," PLOS ONE, Public Library of Science, vol. 16(1), pages 1-15, January.

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Coren L Apicella & David Cesarini & Magnus Johannesson & Christopher T Dawes & Paul Lichtenstein & Björn Wallace & Jonathan Beauchamp & Lars Westberg, 2010. "No Association between Oxytocin Receptor (OXTR) Gene Polymorphisms and Experimentally Elicited Social Preferences," PLOS ONE, Public Library of Science, vol. 5(6), pages 1-8, June.
    2. Zhao-Yang Wang & Keke Zhao & Jingwei Zheng & Brian Rossmiller & Cristhian Ildefonso & Manas Biswal & Pei-quan Zhao, 2014. "Systematic Review and Meta-Analysis of the Association between Complement Factor H I62V Polymorphism and Risk of Polypoidal Choroidal Vasculopathy in Asian Populations," PLOS ONE, Public Library of Science, vol. 9(2), pages 1-8, February.
    3. Kyung-Won Hong & Seok Won Jeong & Myungguen Chung & Seong Beom Cho, 2014. "Association between Expression Quantitative Trait Loci and Metabolic Traits in Two Korean Populations," PLOS ONE, Public Library of Science, vol. 9(12), pages 1-13, December.
    4. Lebrec Jeremie J & Stijnen Theo & van Houwelingen Hans C, 2010. "Dealing with Heterogeneity between Cohorts in Genomewide SNP Association Studies," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 9(1), pages 1-22, January.
    5. Thomas R Roos & Andrew K Roos & Andrew L Avins & Marwa A Ahmed & John P Kleimeyer & Michael Fredericson & John P A Ioannidis & Jason L Dragoo & Stuart K Kim, 2017. "Genome-wide association study identifies a locus associated with rotator cuff injury," PLOS ONE, Public Library of Science, vol. 12(12), pages 1-15, December.
    6. Ping-Yu Wang & Zong-Hua Gao & Zhong-Hua Jiang & Xin-Xin Li & Bao-Fa Jiang & Shu-Yang Xie, 2013. "The Associations of Single Nucleotide Polymorphisms in miR-146a, miR-196a and miR-499 with Breast Cancer Susceptibility," PLOS ONE, Public Library of Science, vol. 8(9), pages 1-7, September.
    7. Sarah Auburn & Andrew E Fry & Taane G Clark & Susana Campino & Mahamadou Diakite & Angela Green & Anna Richardson & Muminatou Jallow & Fatou Sisay-Joof & Margaret Pinder & Malcolm E Molyneux & Terrie , 2010. "Further Evidence Supporting a Role for Gs Signal Transduction in Severe Malaria Pathogenesis," PLOS ONE, Public Library of Science, vol. 5(4), pages 1-7, April.
    8. Hélène Choquet & Jay Kasberger & Ajna Hamidovic & Eric Jorgenson, 2013. "Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population," PLOS ONE, Public Library of Science, vol. 8(2), pages 1-7, February.
    9. Elie Aoun & Chung-Chou H Chang & Julia B Greer & Georgios I Papachristou & M Michael Barmada & David C Whitcomb, 2008. "Pathways to Injury in Chronic Pancreatitis: Decoding the Role of the High-Risk SPINK1 N34S Haplotype Using Meta-Analysis," PLOS ONE, Public Library of Science, vol. 3(4), pages 1-8, April.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pgen00:1002033. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosgenetics (email available below). General contact details of provider: https://journals.plos.org/plosgenetics/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.