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

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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.

          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.

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          Most cited references33

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          Comparative validation of the Block, Willett, and National Cancer Institute food frequency questionnaires : the Eating at America's Table Study.

          Researchers at the National Cancer Institute developed a new cognitively based food frequency questionnaire (FFQ), the Diet History Questionnaire (DHQ). The Eating at America's Table Study sought to validate and compare the DHQ with the Block and Willett FFQs. Of 1,640 men and women recruited to participate from a nationally representative sample in 1997, 1,301 completed four telephone 24-hour recalls, one in each season. Participants were randomized to receive either a DHQ and Block FFQ or a DHQ and Willett FFQ. With a standard measurement error model, correlations for energy between estimated truth and the DHQ, Block FFQ, and Willett FFQ, respectively, were 0.48, 0.45, and 0.18 for women and 0.49, 0.45, and 0.21 for men. For 26 nutrients, correlations and attenuation coefficients were somewhat higher for the DHQ versus the Block FFQ, and both were better than the Willett FFQ in models unadjusted for energy. Energy adjustment increased correlations and attenuation coefficients for the Willett FFQ dramatically and for the DHQ and Block FFQ instruments modestly. The DHQ performed best overall. These data show that the DHQ and the Block FFQ are better at estimating absolute intakes than is the Willett FFQ but that, after energy adjustment, all three are more comparable for purposes of assessing diet-disease risk.
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            Comparative Validation of the Block, Willett, and National Cancer Institute Food Frequency Questionnaires

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              Food sources and intakes of caffeine in the diets of persons in the United States.

              This study provides information on the caffeine intakes of a representative sample of the US population using the US Department of Agriculture 1994 to 1996 and 1998 Continuing Survey of Food Intakes by Individuals. The percentage of caffeine consumers of the total sample (N=18,081) and by age and sex groups and for pregnant women were determined. Among caffeine consumers (n=15,716), the following were determined: mean intakes of caffeine (milligrams per day and milligrams per kilogram per day) for all caffeine consumers, as well as for each age and sex group and pregnant women; mean intakes (milligrams per day) of caffeine by food and beverage sources; and the percent contribution of each food and beverage category to total caffeine intake for all caffeine consumers, as well as each age and sex group and pregnant women. Eight-seven percent of the sample consumed food and beverages containing caffeine. On average, caffeine consumers' intakes were 193 mg caffeine per day and 1.2 mg caffeine per kilogram of body weight per day. As age increased, caffeine consumption increased among people aged 2 to 54 years. Men and women aged 35 to 64 years were among the highest consumers of caffeine. Major sources of caffeine were coffee (71%), soft drinks (16%), and tea (12%). Coffee was the major source of caffeine in the diets of adults, whereas soft drinks were the primary source for children and teens.
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                Author and article information

                Contributors
                Role: Editor
                Journal
                PLoS Genet
                plos
                plosgen
                PLoS Genetics
                Public Library of Science (San Francisco, USA )
                1553-7390
                1553-7404
                April 2011
                April 2011
                7 April 2011
                : 7
                : 4
                : e1002033
                Affiliations
                [1 ]Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, United States of America
                [2 ]Department of Epidemiology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
                [3 ]Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
                [4 ]Brigham and Women's Hospital, Boston, Massachusetts, United States of America
                [5 ]Collaborative Health Studies Coordinating Center, University of Washington, Seattle, Washington, United States of America
                [6 ]Division of Epidemiology, Human Genetics, and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America
                [7 ]Department of Biostatistics, Collaborative Studies Coordinating Center, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
                [8 ]Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
                [9 ]Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts, United States of America
                [10 ]Department of Epidemiology and Public Health and Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
                Georgia Institute of Technology, United States of America
                Author notes

                Conceived and designed the experiments: NEC RMvD MCC. Analyzed the data: MCC KLM KY NP DIC. Wrote the paper: MCC KLM KY NP DIC RMvD NEC. Genetic data provider: EBR GC FBH PK DJH DIC NEC. Study management: NEC RMvD MCC. Critical review of manuscript: MCC KLM KY NP EMA SNB SIB EB SC NC DC GC GH FBH DJH KJ MKJ PK MTL JAN MPP PR EBR LMR NR DS RS-S AS MY DIC RMvD NEC.

                ¶ These authors were joint senior authors on this work.

                Article
                PGENETICS-D-10-00372
                10.1371/journal.pgen.1002033
                3071630
                21490707
                28edb9c6-6d57-43e8-a6d8-6d0c5d57e68b
                This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.
                History
                : 17 November 2010
                : 6 February 2011
                Page count
                Pages: 9
                Categories
                Research Article
                Social and Behavioral Sciences

                Genetics
                Genetics

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