SynthesisMolecular psychiatry2012
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
Synthesis in Molecular psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 8 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
71 citing papers in PubMed, 8 syntheses or guidelines pooled it, 143 citations in OpenAlex.
- Genetic susceptibility to caffeine intake and metabolism: a systematic review.Journal of translational medicine · 2024Pooled it
- A Systematic Review of the Gene-Lifestyle Interactions on Metabolic Disease-Related Outcomes in Arab Populations.Nutrients · 2024Pooled it
- Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.BMC genomics · 2023Pooled it
- Coffee consumption is associated with DNA methylation levels of human blood.European journal of human genetics : EJHG · 2017Pooled it
- Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts.PloS one · 2017Pooled it
- Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.Molecular psychiatry · 2015Pooled it
- Genetic comorbidities in Parkinson's disease.Human molecular genetics · 2014Pooled it
- Pharmacogenomics of drug-metabolizing enzymes: a recent update on clinical implications and endogenous effects.The pharmacogenomics journal · 2013Pooled it
- Caffeine Consumption Contributes to Skin Intrinsic Fluorescence in Type 1 Diabetes.Diabetes technology & therapeutics · 2015Trial
- Habitual coffee consumption poorly correlates with sleep quality and daytime sleepiness: A cross-sectional study.PloS one · 2026Article
- Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease.Cerebellum (London, England) · 2024Article
- Genome-wide association studies of coffee intake in UK/US participants of European ancestry uncover cohort-specific genetic associations.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Trends on Novel Targets and Nanotechnology-Based Drug Delivery System in the Treatment of Parkinson's disease: Recent Advancement in Drug Development.Current drug targets · 2024Review
- Pharmacogenomics: Driving Personalized Medicine.Pharmacological reviews · 2023Review
- Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans.Genome biology and evolution · 2022Article
- Whole Exome Sequencing Study Identifies Novel Rare Risk Variants for Habitual Coffee Consumption Involved in Olfactory Receptor and Hyperphagia.Nutrients · 2022Article
- Genetic Variations on Redox Control in Cardiometabolic Diseases: The Role of Nrf2.Antioxidants (Basel, Switzerland) · 2022Review
- Causal relationship from coffee consumption to diseases and mortality: a review of observational and Mendelian randomization studies including cardiometabolic diseases, cancer, gallstones and other diseases.European journal of nutrition · 2022Review
- Genetic determinants of liking and intake of coffee and other bitter foods and beverages.Scientific reports · 2021Article
- Caffeine, genetic variation and anaerobic performance in male athletes: a randomized controlled trial.European journal of applied physiology · 2021Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
53 authors at 15 institutions in 7 countries.
Funding
Abstract
Coffee consumption is a model for addictive behavior. We performed a meta-analysis of genome-wide association studies (GWASs) on coffee intake from 8 Caucasian cohorts (N=18 176) and sought replication of our top findings in a further 7929 individuals. We also performed a gene expression analysis treating different cell lines with caffeine. Genome-wide significant association was observed for two single-nucleotide polymorphisms (SNPs) in the 15q24 region. The two SNPs rs2470893 and rs2472297 (P-values=1.6 × 10(-11) and 2.7 × 10(-11)), which were also in strong linkage disequilibrium (r(2)=0.7) with each other, lie in the 23-kb long commonly shared 5' flanking region between CYP1A1 and CYP1A2 genes. CYP1A1 was found to be downregulated in lymphoblastoid cell lines treated with caffeine. CYP1A1 is known to metabolize polycyclic aromatic hydrocarbons, which are important constituents of coffee, whereas CYP1A2 is involved in the primary metabolism of caffeine. Significant evidence of association was also detected at rs382140 (P-value=3.9 × 10(-09)) near NRCAM-a gene implicated in vulnerability to addiction, and at another independent hit rs6495122 (P-value=7.1 × 10(-09))-an SNP associated with blood pressure-in the 15q24 region near the gene ULK3, in the meta-analysis of discovery and replication cohorts. Our results from GWASs and expression analysis also strongly implicate CAB39L in coffee drinking. Pathway analysis of differentially expressed genes revealed significantly enriched ubiquitin proteasome (P-value=2.2 × 10(-05)) and Parkinson's disease pathways (P-value=3.6 × 10(-05)).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.