Genome-Wide Meta-Analysis Identifies Regions on 7p21 (AHR) and 15q24 (CYP1A2) As Determinants of Habitual Caffeine Consumption
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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.
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A genome-wide association study found a highly significant association between a variant on CYP1A2 and coffee intake.
“Recently, a genome-wide association study (GWAS) found a highly significant association between a variant on CYP1A2 and coffee intake48.”
From Long-Term Coffee Consumption and Risk of Cardiovascular Disease: A Systematic Review and a Dose–Response Meta-Analysis of Prospective Cohort Studies (2014) · cites this paper as [48]
The CYP1A2 variant explains only a very small population variance.
“However, this variant explains only a very small population variance.”
From Long-Term Coffee Consumption and Risk of Cardiovascular Disease: A Systematic Review and a Dose–Response Meta-Analysis of Prospective Cohort Studies (2014) · cites this paper as [48]
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- Authors
- Cornelis, M. C., Monda, K. L., Yu, K., Paynter, N., Azzato, E. M., Bennett, S. N., Berndt, S. I., Boerwinkle, E., Chanock, S., Chatterjee, N., Couper, D., Curhan, G., Heiss, G., Hu, F. B., Hunter, D. J., Jacobs, K., Jensen, M. K., Kraft, P., Landi, M. T., Nettleton, J. A., Purdue, M. P., Rajaraman, P., Rimm, E. B., Rose, L. M., Rothman, N., Silverman, D., Stolzenberg-Solomon, R., Subar, A., Yeager, M., Chasman, D. I., van Dam, R. M., & Caporaso, N. E.
- Affiliations
- Harvard University (US)
- University of North Carolina at Chapel Hill (US)
- National Institutes of Health (US)
- Brigham and Women's Hospital (US)
- University of Washington (US)
- The University of Texas Health Science Center at Houston (US)
- Corresponding author
- Chasman, Daniel I.
- Caporaso, Neil E.
- ORCID
- Cornelis, Marilyn C.
- Yu, Kai
- Paynter, Nina
- Azzato, Elizabeth M.
- Berndt, Sonja I.
- Boerwinkle, Eric
- Chanock, Stephen
- Chatterjee, Nilanjan
- Couper, David
- Curhan, Gary
- Heiss, Gerardo
- Hu, Frank B.
- Jacobs, Kevin
- Jensen, Majken K.
- Kraft, Peter
- Landi, Maria Teresa
- Purdue, Mark P.
- Rajaraman, Preetha
- Rimm, Eric B.
- Rose, Lynda M.
- Rothman, Nathaniel
- Silverman, Debra
- Yeager, Meredith
- Chasman, Daniel I.
- Caporaso, Neil E.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-04-07
- Volume
- 7
- Issue
- 4
- Pages
- e1002033
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3071630
- OpenAlex
- W2147245308
- Cited by
- 228
- References
- 37
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 10 · 2023: 10 · 2022: 8 · 2021: 13 · 2020: 21 · 2019: 15 · 2018: 20 · 2017: 15 · 2016: 21 · 2015: 15 · 2014: 20 · 2013: 18 · 2012: 18
- FWCI
- 14.76
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, public-domain)
- Europe PMC (PubMed Central) (publishedVersion, public-domain)
- PubMed Central (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- National University of Singapore (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- UNC Libraries
- Funders
- U.S. Department of Health and Human Services (R01HL086694, U10AA008401, U01HG004438, R01HL087641, R01HL59367, U01HG004729)
- Donald W. Reynolds Foundation
- Amgen
- Division of Cancer Prevention, National Cancer Institute (CA55075)
- Johns Hopkins University (N01-HC-55020, HHSN268200782096C, U01HG004438)
- Broad Institute
- Fondation Leducq
- National Institutes of Health (HSN268200625226C, n01hc55021-47-0-1, n01hc55020-39-0-0, n01hc55016-37-0-0, n01hc055022-024, 5u01hg004423-02, n01hc55019-35-0-1, 5p01dk070756-05, n01hc55018-38-0-1, 5r01hl043851-10, HHSN268200782096C, N01-HC55020, N01-HC-55021, N01-HC-55019, N01-HC-55022, N01-HC55016, N01-HC55018, CA55075, CA54281, CA63464, N01-HC-55015, HL69757, n01hc55015-48-0-1)
- U.S. Public Health Service (AHG006033)
- Canadian Institutes of Health Research (U10AA008401, CA63464, CA54281)
- National Institute on Alcohol Abuse and Alcoholism (HHSN268200782096C, U10AA008401)
- National Heart, Lung, and Blood Institute (N01-HC55022, HC-55016, N01 HC055016, N01-HC-55018, R01HL087641, R01HL59367 and R01HL086694, HL043851, N01 HC 55020, R01‐HL043851, HC-55021, HC-55018, N01 HC 55019, R01 HL-59367, U19HL069757, HC-55022, N01 HC055020, R01HL035464, HC-55019, N01-HC, N01 HC055018, HC-55015, U01HL069757, HC-55020, N01-HC55016, R01HL087641, N01 HC055022, HL 69757, R01HL059367, HL35464, HHSN268200782096C, N01 HC055019, CA55075, N01‐HC‐55015, N01-HC55021, CA047988, N01 HC055021, N01 HC055015, R01HL086694)
- National Institute on Drug Abuse (01DA013423, R01DA013423, HHSN268200782096C)
- National Human Genome Research Institute (U01HG004735, U01-HG004423, U01HG004726, U01HG04424, U01HG004422, U01HG004738, U01HG004399, U01HG004402, U01HG004728, U01HG004415, U01HG004446, U01HG004729, U01HG004424, U01HG004438, U01HG004436, 01HG004735, HHSN268200782096C)
- National Cancer Institute (R01CA040356, CA63464, CA136792, U01CA063464, CA-55075, R37CA054281, CA-40356, CA98233, P01CA087969, R01CA054281, P01CA089392, CA 047988, R01CA063464, CA 54281, U01 CA 98233, P01CA055075, U01CA098233, R01CA047988, U01CA136792, Z01CP010200)
- National Institute of Diabetes and Digestive and Kidney Diseases (P01-DK-070756, R01DK058845, N01-HC-55016, N01-HC-55018, N01-HC-55021, N01-HC-55020, N01-HC-55015, 5P01DK070756, N01-HC-55019, N01-HC-55022)
- National Institute of Dental and Craniofacial Research (U01DE018993, U01DE018903, HHSN268200782096C)
- National Center for Research Resources (UL1RR025005)
- Topics
- Health Sciences › Medicine › Pharmacology › Coffee research and impacts
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- habitual caffeine consumption, caffeine consumption, CYP1A1, caffeine metabolism, gene expression regulation
- MeSH terms
- Adult, Aged, Caffeine, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 7, Drinking Behavior, Female, Genotype, Humans, Male, Middle Aged, Quality Control, Sex Factors, United States, Receptors, Aryl Hydrocarbon, Cytochrome P-450 CYP1A2, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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