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Genome-Wide Meta-Analysis Identifies Regions on 7p21 (AHR) and 15q24 (CYP1A2) As Determinants of Habitual Caffeine Consumption
Open accessAbstract
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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“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]
In the citing paper
“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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“…related to caffeine metabolism, such as single nucleotide polymorphisms (SNPs) near ABCG2 , AHR , CD83 , CYP1A2 , CYP2A6 , GCKR , and POR genes (Cornelis et al., 2011, 2015, 2016; Sulem et al., 2011); gastric factors, including caffeine time present in the stomach and gastric pH (Chvasta &…”
BackgroundOxytocin receptor (OXTR) is not associated with optimism in the Nurses’ Health Study
Cornelis, M. C., Glymour, M. M., Chang, S.-C., Tchetgen, E. J. T., Liang, L., Koenen, K. C., Kang, J. H., Pasquale, L. R., Rimm, E. B., Kawachi, I. I., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.178 · Cited by 30
Self-citationNIH Workshop Report: sensory nutrition and disease
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“The horizontal lines indicate the nominal significance threshold (p < 0.05) and the genome-wide significance threshold (p < 10-7) cg24752487 2 38,324,188 21 kb upstream of CYP1B1c Intergenic; Mammalian H3K27me3repression mark − 0.138 2.1 × 10−7 0.040 cg06036945 5 394,869 AHRRc Body − 0.125 3.7 × 10−7 0.040 cg04066994…”
BackgroundInfluentialInsulin clearance: confirmation as a highly heritable trait, and genome-wide linkage analysis
Guo, X., Cui, J., Jones, M. R., Haritunians, T., Xiang, A. H., Chen, Y. I., Taylor, K. D., Buchanan, T. A., Davis, R. C., Hsueh, W. A., et al. (2012) · Diabetologia · doi:10.1007/s00125-012-2577-2 · Cited by 29
The PLCO Biorepository: Creating, Maintaining, and Administering a Unique Biospecimen Resource
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“GWAS with PLCO samples have also been conducted for non-cancer outcomes including height and body mass index [29, 30], smoking behavior [31], vitamin D and its binding protein [32, 33], caffeine consumption [34], serum selenium [35] and telomere length [36].”
MethodSelf-citationCornelis, M. C. (2012) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-398397-8.00012-5 · Cited by 27
Self-citationInfluence of CYP1A1/CYP1A2 and AHR polymorphisms on systemic olanzapine exposure
Söderberg, M. M., Haslemo, T., Molden, E., & Dahl, M. (2013) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e3283602876 · Cited by 28
Genetic Risk Prediction: Individualized Variability in Susceptibility to Toxicants
Nebert, D. W., Zhang, G., & Vesell, E. S. (2013) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-011112-140241 · Cited by 26
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“Recent GWASs have identified several loci on the AHR, CYP1A1, and CYP1A2 genes associated with coffee consumption [16,17].”
BackgroundAcyloxyacyl hydrolase modulates depressive-like behaviors through aryl hydrocarbon receptor
Aguiniga, L. M., Yang, W., Yaggie, R. E., Schaeffer, A. J., & Klumpp, D. J. (2019) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.00029.2019 · Cited by 26
Coffee consumption and risk of breast cancer: A Mendelian randomization study
Ellingjord‐Dale, M., Papadimitriou, N., Katsoulis, M., Yee, C., Dimou, N. L., Gill, D., Aune, D., Ong, J., MacGregor, S., Elsworth, B., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0236904 · Cited by 26
“Several genome-wide association studies (GWAS) on coffee or caffeine consumption have been previously published (32-37).”
BackgroundAnti-Inflammatory Effect of Caffeine on Muscle under Lipopolysaccharide-Induced Inflammation
Eichwald, T., Solano, A. F., Souza, J., de Miranda, T. B., Carvalho, L. B., Sanna, P. L. D. S., da Silva, R. A., & Latini, A. (2023) · Antioxidants · doi:10.3390/antiox12030554 · Cited by 27
“Indeed, genome-wide meta-analyses identified several genes positively associating caffeine consumption and DNA methylation [22,79,80].”
BackgroundImpact of coffee intake on human aging: Epidemiology and cellular mechanisms
Lopes, C. R., & Cunha, R. A. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102581 · Cited by 26
Methodological and metabolic considerations in the study of caffeine-containing energy drinks
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Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant
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Epigenomic Mapping and Effect Sizes of Noncoding Variants Associated with Psychotropic Drug Response
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Not Another Caffeine Effect on Sports Performance Study—Nothing New or More to Do?
Tallis, J. A., Guimarães‐Ferreira, L., & Clarke, N. D. (2022) · Nutrients · doi:10.3390/nu14214696 · Cited by 29
The complexity of coffee and its impact on metabolism
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Genome‐wide polygenic scoring for a 14‐year long‐term average depression phenotype
Chang, S., Glymour, M. M., Walter, S., Liang, L., Koenen, K. C., Tchetgen, E. J. T., Cornelis, M. C., Kawachi, I. I., Rimm, E. B., & Kubzansky, L. D. (2014) · Brain and Behavior · doi:10.1002/brb3.205 · Cited by 22
“Details regarding study design and genotyping QC for each GWAS were reported elsewhere (Cornelis et al. 2011) and are summarized in Appendix 1 and Tables S2 and S3.”
MethodSelf-citationLong-Term Coffee Consumption and Risk of Gastric Cancer
Zeng, S., Weng, H., Zhou, M., Duan, X., Shen, X., & Zeng, X. (2015) · Medicine · doi:10.1097/md.0000000000001640 · Cited by 22
“This controversial result might indicate that ethnicity might play a critical role in the relationship between coffee consumption and risk of gastric cancer, which may be caused by gene effects, as shown in a genome-wide association study which observed a highly significant association between a mutation on CYP1A2 and…”
ResultLajin, B., Schweighofer, N., Goessler, W., & Obermayer-Pietsch, B. M. (2021) · Talanta · doi:10.1016/j.talanta.2021.122658 · Cited by 21
Du, M., Prescott, J., Cornelis, M. C., Hankinson, S. E., Giovannucci, E. L., Kraft, P. L., & Vivo, I. D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0052240 · Cited by 23
“Among women who had previously provided a blood sample, individuals of European ancestry were included as cases or controls in genome-wide association studies of incident cancers, cardiovascular disease, T2D, kidney stones, or open-angle glaucoma [31,32,33,34].”
BackgroundMethodSelf-citationThe Cardiac Effects of Performance-Enhancing Medications: Caffeine vs. Anabolic Androgenic Steroids
Sivalokanathan, S., Małek, Ł. A., & Malhotra, A. (2021) · Diagnostics · doi:10.3390/diagnostics11020324 · Cited by 22
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“Two lead SNPs shared by the intake of coffee and cereal, i.e. rs4410790 and rs2472297, have been previously associated with coffee/caffeine consumption (Cornelis et al. 2011, 2015; Sulem et al. 2011), caffeine metabolism (Cornelis et al. 2016), and alcohol consumption (Liu et al. 2019).”
Taylor, A. E., Martin, R. M., Geybels, M. S., Stanford, J. L., Shui, I. M., Eeles, R. A., Easton, D. F., Kote‐Jarai, Z., Olama, A. A. A., Benlloch, S., et al. (2016) · International Journal of Cancer · doi:10.1002/ijc.30462 · Cited by 21
“Although these variants appear related to caffeine intake in general rather than coffee consumption specifically, they demonstrate robust associations with coffee consumption.(12) Given that many of the proposed mechanisms for the protective effect of coffee are related to noncaffeine compounds,(2) these genetic marke…”
BackgroundBao, Y., Curhan, G. C., Merriman, T. R., Plenge, R. M., Kraft, P., & Choi, H. K. (2015) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2014-206534 · Cited by 19
Self-citationGene Silencing and Haploinsufficiency of Csk Increase Blood Pressure
Lee, H.-J., Kang, J., Kim, S.-M., Ji, S., Park, S., Kim, M. E., Jigden, B., Lim, J. E., Hwang, S., Lee, Y., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0146841 · Cited by 20
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“Genetic variants for the MR analyses were identified through an extensive review of published GWAS findings for coffee, tea and/or caffeine consumption (28-33).”
MethodSelf-citationSystematic target function annotation of human transcription factors
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“90% of SNPs that are significantly associated with phenotypes (including PGx phenotypes) that have been identified during GWAS have mapped to noncoding regions of the genome (Hrdlickova et al., 2014; Farh et al., 2015; Tak and Farnham, 2015), but only 25.6% of GWAS SNPs are also eQTLs in the GTEx database (v7) (Carith…”
BackgroundInfluentialGene-Coffee Interactions and Health
Cornelis, M. C. (2014) · Current Nutrition Reports · doi:10.1007/s13668-014-0087-1 · Cited by 17
Self-citationSources of Interindividual Variability
Lin, Y. S., Thummel, K. E., Thompson, B. D., Totah, R. A., & Cho, C. W. (2021) · Methods in molecular biology · doi:10.1007/978-1-0716-1554-6_17 · Cited by 18
Does coffee consumption impact on heaviness of smoking?
Ware, J. J., Tanner, J., Taylor, A. E., Zhao, B., Haycock, P., Bowden, J., Rogers, P. J., Smith, G. D., Tyndale, R. F., & Munafo, M. R. (2017) · Addiction · doi:10.1111/add.13888 · Cited by 15
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“We confirmed the association between habitual coffee consumption and the loci 12q24 and 7p21; the latter was previously identified in populations of European decent in the United States [18].”
BackgroundClinical and Experimental Human Sleep-Wake Pharmacogenetics
Landolt, H., Holst, S. C., & Valomon, A. (2018) · Handbook of experimental pharmacology · doi:10.1007/164_2018_175 · Cited by 15
Evaluating Individual Level Responses to Exercise for Health Outcomes in Overweight or Obese Adults
Ross, L. M., Slentz, C. A., & Kraus, W. E. (2019) · Frontiers in Physiology · doi:10.3389/fphys.2019.01401 · Cited by 16
“As has been demonstrated for other lifestyle behaviors such as smoking and nutrition (e.g., coffee consumption) (Cornelis et al., 2011; Gustavsson et al., 2012; Shenker et al., 2013; Matoba et al., 2019), this result provides evidence for the presence of biological predictors Frontiers in…”
BackgroundLind, L., Penell, J. C., Syvänen, A.-C., Axelsson, T., Ingelsson, E., Morris, A. P., Lindgren, C. M., Salihović, S., van Bavel, B., & Lind, P. (2014) · Environmental Research · doi:10.1016/j.envres.2014.05.017 · Cited by 15
“However, it is a synonymous (silent) variant (i.e. believed to not affect protein sequence) located between CYP1A1 and CYP1A2 and it has been associated with coffee consumption in two recent prior genome-wide association studies (Amin et al., 2012; Cornelis et al., 2011).”
ResultGenetic Susceptibility, Change in Physical Activity, and Long-term Weight Gain
Wang, T., Huang, T., Heianza, Y., Sun, D., Zheng, Y., Ma, W., Jensen, M. K., Kang, J. H., Wiggs, J. L., Pasquale, L. R., et al. (2017) · Diabetes · doi:10.2337/db17-0071 · Cited by 15
Self-citationLiu, D., Qin, S., Ray, B., Kalari, K. R., Wang, L., & Weinshilboum, R. M. (2018) · Drug Metabolism and Disposition · doi:10.1124/dmd.118.082164 · Cited by 15
“…GWAS studies for coffee consumption have identified rs2470893 as one of the “top hits” for association with that phenotype, with the variant genotype associated with less coffee consumption (Cornelis et al., 2011; Amin et al., 2012) and decreased caffeine metabolism (Cornelis et al., 2016).”
BackgroundBarnung, R. B., Nøst, T. H., Ulven, S. M., Skeie, G., & Olsen, K. S. (2018) · Nutrients · doi:10.3390/nu10081047 · Cited by 15
“Some of the most well established SNPs are located in CYP1A1 and CYP1A2 (caffeine metabolism), and AHR (regulation of CYP1A2) [17,18].”
BackgroundInfluentialCaffeine Intake, Plasma Caffeine Level, and Kidney Function: A Mendelian Randomization Study
Giontella, A., Harpe, R. D. L., Cronjé, H. T., Zagkos, L., Woolf, B. A. R., Larsson, S. C., & Gill, D. (2023) · Nutrients · doi:10.3390/nu15204422 · Cited by 14
“Over 95% of caffeine in humans is metabolized via cytochrome P450 1A2 (CYP1A2), and the gene expression of this enzyme is regulated via the aryl hydrocarbon receptor (AHR) [16,17].”
BackgroundMethodHaas, D. W., Cramer, Y. S., Godfrey, C. C., Rosenkranz, S. L., Aweeka, F. T., Berzins, B., Coombs, R. W., Coughlin, K., Moran, L. E., Gingrich, D. J., et al. (2020) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0000000000000396 · Cited by 14
Developments in renal pharmacogenomics and applications in chronic kidney disease
Lloberas, N., Padullés, A., Llaudó, I., & Rama, I. (2014) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s52763 · Cited by 12
“63 Regular coffee or caffeine intake increases BP, 64 but there is a tolerance to the acute cardiovascular effects.”
Genetic analysis of emerging risk factors in coronary artery disease
van Iperen, E. P. A., Sivapalaratnam, S., Holmes, M. V., Hovingh, G. K., Zwinderman, A. H., & Asselbergs, F. W. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.09.008 · Cited by 12
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Gene–environment interactions of selected pharmacogenes in arterial hypertension
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“recently discovered AHR and CYP1A1/CYP1A2 locus associated with habitual caffeine consumption [57].”
BackgroundHirbo, J. B., Pasutto, F., Gamazon, E. R., Evans, P. D., Pawar, P. P., Berner, D., Sealock, J., Tao, R., Straub, P., Konkashbaev, A. I., et al. (2023) · BMC Genomics · doi:10.1186/s12864-023-09179-7 · Cited by 10
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Self-citationLaaboub, N., Gholam, M., Sibailly, G., Sjaarda, J., Delacrétaz, A., Dubath, C., Grosu, C., Piras, M., Ansermot, N., Crettol, S., et al. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.756403 · Cited by 7
“Genome-wide association studies (GWAS) have identified eight independent loci associated with caffeine consumption at the genome-wide significance level and the most strongly associated loci are on or near CYP1A2, CYP1A1 and aryl-hydrocarbon receptor (AHR) genes, the latter affecting CYP1A activity (26, 27).”
BackgroundThe Case‐Only Test for Gene–Environment Interaction is Not Uniformly Powerful: An Empirical Example
Wu, C. H., Chang, J., Ma, B., Miao, X., Zhou, Y., Liu, Y., Li, Y., Wu, T., Hu, Z., Shen, H., et al. (2013) · Genetic Epidemiology · doi:10.1002/gepi.21713 · Cited by 8
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Longitudinal Analysis of Sweet Taste Preference Through Genetic and Phenotypic Data Integration
Bae, J. H., & Kang, H. (2024) · Foods · doi:10.3390/foods13213370 · Cited by 7
“This study was approved by the institutional review board of Keimyung University (approval number 40525-202110-BR-066-01).”
BackgroundMethodFeng, L., Du, W., Wang, X., Cao, H., Ji, Z., Li, F., Cao, J., & Zhou, Z. (2025) · Frontiers in Nutrition · doi:10.3389/fnut.2025.1673882 · Cited by 11
Zhou, A., Taylor, A. E., Karhunen, V., Zhan, Y., Rovio, S., Lahti, J. M. T., Sjögren, P., Byberg, L., Lyall, D. M., AUVINEN, J. P., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-25919-2 · Cited by 14
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Furukawa, K., Igarashi, M., Jia, H., Nogawa, S., Kawafune, K., Hachiya, T., Takahashi, S., Saito, K., & Kato, H. (2020) · Nutrients · doi:10.3390/nu12103182 · Cited by 7
“Several studies also identified the variants related to caffeine intake, which was calculated by summing the consumption of caffeinated coffee, tea, soft drinks, and chocolate in individuals of European descent in populations from the United States and Costa Rica [29,30], whereas no GWAS data were available on the var…”
BackgroundCornelis, M. C. (2020) · British Journal Of Nutrition · doi:10.1017/s0007114520004377 · Cited by 7
“Individuals with the rs2472297 T allele habitually consumemore caffeine than individuals with the CC genotype but have relatively lower circulating caffeine levels(26,27).”
BackgroundSelf-citationUnraveling the complexities of caffeine: metabolism, genetics, evolution, and health
Liu, X., & Xu, S. (2026) · Hereditas · doi:10.1186/s41065-026-00648-z · Cited by 6
“…meta-analyses of GWAS on caffeine-related traits have consistently confirmed the paramount importance of the CYP1A2 (encoding the major enzyme in caffeine metabolism) and AHR (encoding the key transcriptional regulator of CYP1A2 expression) loci, solidifying their central role [31, 34, 110].”
Habitual caffeine intake, genetics and cognitive performance
Kapellou, A., Pilić, L., & Mavrommatis, Y. (2024) · Journal of Psychopharmacology · doi:10.1177/02698811241303601 · Cited by 6
“The SNPs employed in the current analysis as proxies for caffeine metabolism have been shown to be associated with habitual caffeine consumption (Cornelis et al., 2011, 2015), supporting the hypothesis that individuals self-regulate their caffeine intake for optimal level of arousal (Zhou et al.,…”
Apostolidis, A., Mougios, V., Smilios, I., & Hadjicharalambous, M. (2022) · European Journal of Nutrition · doi:10.1007/s00394-022-02955-3 · Cited by 8
“It is not clear whether this is due to high habitual caffeine consumption directly or indirectly, for example, through genetic factors that affect habitual caffeine consumption [41].”
BackgroundInforming Prevention and Intervention Policy Using Genetic Studies of Resistance
Maher, B. S., Latendresse, S. J., & Vanyukov, M. M. (2016) · Prevention Science · doi:10.1007/s11121-016-0730-8 · Cited by 6
“Consistent with this observation, the recent successes in addiction genetics have been in studies focusing on variation within drugexposed populations or included controls with significant exposure (Cornelis et al. 2011; Sulem et al. 2011; Tobacco and Genetics Consortium 2010).”
Yamamoto, V. J., de Paula, V. D. J. R., Forlenza, O. V., dos Santos, B., & Kerr, D. S. (2015) · Archives of Clinical Psychiatry (São Paulo) · doi:10.1590/0101-60830000000050 · Cited by 5
“rs4410790 C: AA(17); AG(47); GG(36) MCI: AA(17); AG(57); GG(26) AD: AA(17); AG(45); GG(38) 0.”
Caffeine and Cardiovascular Disease: A Scientific Statement From the American Heart Association
Marcus, G. M., Hu, F. B., van Dam, R. M., Cornelis, M. C., Dewland, T. A., Kang, J., Larsson, S. C., Page, R. L., II, & Parekh, N. (2026) · Circulation · doi:10.1161/cir.0000000000001454 · Cited by 4
Self-citationLaaboub, N., Ranjbar, S., Strippoli, M. F., Marques-Vidal, P. M., Younes, S. E., Ponte, B., Pruijm, M. T., Vogt, B., Ansermot, N., Crettol, S., et al. (2024) · European Journal of Nutrition · doi:10.1007/s00394-024-03351-9 · Cited by 4
Latosińska, M., & Latosińska, J. N. (2017) · InTech eBooks · doi:10.5772/intechopen.69693 · Cited by 5
“‘COMT’ controls the breakdown of catecholamines, ‘AHR’ controls the state on/off of CYP1A2 [105, 106], ‘PDSS2’ regulates the production of CYP1A2 [80] and ‘ADORA2A’ is responsible for the variation of A2A to which caffeine binds and controls caffeine sensitivity [107].”
InfluentialNikrandt, G., Mikołajczyk-Stecyna, J., Młodzik-Czyżewska, M. A., & Chmurzyńska, A. (2022) · Nutrition Research · doi:10.1016/j.nutres.2022.06.003 · Cited by 4
Bae, J. H., & Kang, H. (2024) · Nutrients · doi:10.3390/nu16172972 · Cited by 4
Ishii, M. M., Ishii, Y., Nakayama, T., Takahashi, Y., & Asai, S. (2020) · Drug Metabolism and Pharmacokinetics · doi:10.1016/j.dmpk.2020.03.003 · Cited by 4
Genetic determinants of beverage consumption: Implications for nutrition and health
Cornelis, M. C. (2019) · Advances in food and nutrition research · doi:10.1016/bs.afnr.2019.03.001 · Cited by 4
Self-citationLaaboub, N., Vandenberghe, F., Ansermot, N., Piras, M., Ranjbar, S., Petrović, D., Pistis, G., Vandenberghe-Dürr, S., Strippoli, M. F., Marques-Vidal, P. M., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03256-x · Cited by 3
Nutrition, Genetics, and Cardiovascular Disease
Qi, L. (2012) · Current Nutrition Reports · doi:10.1007/s13668-012-0008-0 · Cited by 4
Spineli, H., dos Santos, M., Almeida, D., Gitaí, D. L. G., Silva‐Cavalcante, M. D., Balikian, P., Ataide‐Silva, T., Marinho, A. H., Sousa, F. A. D. B., & de Araujo, G. (2024) · Brazilian Journal of Medical and Biological Research · doi:10.1590/1414-431x2024e13217 · Cited by 3
“Previous studies showed associations between HCI and genetics (39,40).”
BackgroundA genome-wide analysis of gene–caffeine consumption interaction on basal cell carcinoma
Li, X., Cornelis, M. C., Liang, L., Song, F., Vivo, I. D., Giovannucci, E. L., Tang, J. Y., & Han, J. (2016) · Carcinogenesis · doi:10.1093/carcin/bgw107 · Cited by 3
Self-citationSubstance Use and Addictive Disorders: Caffeine
Meredith, S. E., & Griffiths, R. R. (2015) · Wiley eBooks · doi:10.1002/9781118753378.ch73 · Cited by 3
Song, B. R., Xu, X., Chen, J., Wang, Y., Chen, Y., Zhang, Z., Han, C., Dong, H., Gao, X., & Sun, L. (2025) · Journal of Affective Disorders · doi:10.1016/j.jad.2025.120992 · Cited by 2
Longitudinal study on the association between salty food preference and obesity prevalence
Bae, J. H., & Kang, H. (2025) · International Journal of Food Sciences and Nutrition · doi:10.1080/09637486.2025.2596106 · Cited by 3
“This study involved 18,433 individuals of European descent, comprising 10,878 males and 7,555 females, with complete base-line information and genotype data available for GWASs (Hunter et al. 2007; Cornelis et al. 2011; Jensen et al. 2011).”
Cheng, B., Pan, C., Cheng, S., Meng, P., Liu, L., Wei, W., Yang, X., Jia, Y., Wen, Y. F., & Zhang, F. (2022) · Nutrients · doi:10.3390/nu14204330 · Cited by 2
“Later, the Coffee and Caffeine Genetics Consortium conducted a meta-GWAS of habitual coffee consumption, and identified six novel loci located in or close to genes potentially related to pharmacokinetics (ABCG2, AHR, POR, and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) [2].”
BackgroundAsogwa, F. C., Ugodi, G. W., Ebugosi, R. S., Achara, I. N., & Atim, H. N. A. (2023) · Global Journal of Pure and Applied Sciences · doi:10.4314/gjpas.v29i1.1 · Cited by 2
Coffee consumption affects kidney function based on GCKR polymorphism in a Korean population
Kim, M.-J., Jin, H., & Eom, Y. (2023) · Nutrition Research · doi:10.1016/j.nutres.2023.12.008 · Cited by 2
Willett, W. C. (2012) · Oxford University Press eBooks · doi:10.1093/acprof:oso/9780199754038.003.0014 · Cited by 2
Genetic Modifiers of Caffeine and Endurance Performance in Athletes
Guest, N. S. (2019) · TSpace (University of Toronto) · Cited by 2
Lambrych, M. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824315-2.00372-9 · Cited by 2
Caffeine intake and the plasma proteome
Tian, O., Josse, A. R., & El‐Sohemy, A. (2013) · The FASEB Journal · doi:10.1096/fasebj.27.1_supplement.1080.3 · Cited by 1
“A recent genome-wide association studies (GWAS) suggested that the -163A>C variant is only mildly associated with coffee consumption and that other variants within CYP1A2 may have a greater influence on habitual caffeine intake [96].”
BackgroundInfluentialInter-individual Differences in Response to Caffeine
Baron, N., & Osadnik, T. (2025) · Springer eBooks · doi:10.1007/978-3-031-93459-9_34 · Cited by 1
Unohara, T., Fujii, R., Watanabe, T., Matsuura, A., Torii, Y., Kita, K., Ishizu, M., Hara, M., Nishida, Y., Nagayoshi, M., et al. (2025) · European Journal of Nutrition · doi:10.1007/s00394-025-03819-2 · Cited by 2
“A genetic variant in AHR (rs4410790) was first reported in the genome-wide association study (GWAS) of coffee intake with a variant between CYP1A1 - CYP1A2 (rs2470893) [ 46 ].”
Cytochrome P450 Polymorphisms of Clinical Importance
Rettie, A. E., & Thummel, K. E. (2014) · Springer eBooks · doi:10.1007/978-4-431-54992-5_21 · Cited by 1
Pharmacogenetics and Pharmacogenomics
Nebert, D. W., & Vesell, E. S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00023-9 · Cited by 2
Zhou, Y., Li, S., Yin, X., Zhu, W., & Zeng, M. (2025) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2025.103856 · Cited by 1
Clinical Pharmacogenetics of Olanzapine : with Focus on FMO Gene Polymorphisms
Söderberg, M. M. (2012) · Cited by 1
Preliminary Studies on Genetic Profiling of Coffee and Caffeine Consumption
Santos, R. M. M. (2019) · Beverages · doi:10.3390/beverages5030041 · Cited by 1
“Another GWAS on coffee and caffeine consumption [7,11,13,14] identified SNPs at the aryl hydrocarbon receptor region (AHR) and between the CYP1A1 and CYP1A2 gene regions that present significant association with habitual caffeine and coffee consumption.”
BackgroundMichelle Luciano, A. (2016) · Addiction · doi:10.1111/add.13456 · Cited by 1
Disclosure of Genetic Information for Personalized Nutrition and Change in Dietary Intake
Nielsen, D. E. (2014) · TSpace (University of Toronto) · Cited by 1
Metadata
- 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)
- National University of Singapore (SG)
- Corresponding author
- Chasman, Daniel I.
- van Dam, Rob M.
- 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.
- van Dam, Rob M.
- 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 (medical) › 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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