ArticleScientific reports2016
Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 4 of them syntheses that pooled it.
What it found
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Who cites it
19 citing papers in PubMed, 4 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Genetic susceptibility to caffeine intake and metabolism: a systematic review.Journal of translational medicine · 2024Pooled it
- GWAS of habitual coffee consumption reveals a sex difference in the genetic effect of the 12q24 locus in the Japanese population.BMC genetics · 2019Pooled it
- Impact of Genetic Variability on Physiological Responses to Caffeine in Humans: A Systematic Review.Nutrients · 2018Pooled it
- Acute caffeine ingestion reduces insulin sensitivity in healthy subjects: a systematic review and meta-analysis.Nutrition journal · 2016Pooled it
- Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals.Nature communications · 2025Article
- Review of Precision Medicine and Diagnosis of Neonatal Illness.Diagnostics (Basel, Switzerland) · 2025Review
- 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
- Shared Genetics and Causality Between Decaffeinated Coffee Consumption and Neuropsychiatric Diseases: A Large-Scale Genome-Wide Cross-Trait Analysis and Mendelian Randomization Analysis.Frontiers in psychiatry · 2022Article
- Associations of Blood Caffeine and Genetically Predicted Coffee Consumption with Anthropometric Measures of Obesity: A Two Sample Mendelian Randomization Study.The journal of nutrition, health & aging · 2022Article
- Genetic determinants of liking and intake of coffee and other bitter foods and beverages.Scientific reports · 2021Article
- A genome-wide association study in Japanese identified one variant associated with a preference for a Japanese dietary pattern.European journal of clinical nutrition · 2021Article
- Article
- Associations of Observational and Genetically Determined Caffeine Intake With Coronary Artery Disease and Diabetes Mellitus.Journal of the American Heart Association · 2020Observational
- A Genome-Wide Association Study Identifies the Association between the 12q24 Locus and Black Tea Consumption in Japanese Populations.Nutrients · 2020Article
- GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.Nature human behaviour · 2020Article
- Precision Medicine in Neonates: Future Perspectives for the Lung.Frontiers in pediatrics · 2020Review
- Genetic determinants of beverage consumption: Implications for nutrition and health.Advances in food and nutrition research · 2019Review
- Biases Inherent in Studies of Coffee Consumption in Early Pregnancy and the Risks of Subsequent Events.Nutrients · 2018Review
- A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coffee is one of the most consumed beverages world-wide and one of the primary sources of caffeine intake. Given its important health and economic impact, the underlying genetics of its consumption has been widely studied. Despite these efforts, much has still to be uncovered. In particular, the use of non-additive genetic models may uncover new information about the genetic variants driving coffee consumption. We have conducted a genome-wide association study in two Italian populations using additive, recessive and dominant models for analysis. This has uncovered a significant association in the PDSS2 gene under the recessive model that has been replicated in an independent cohort from the Netherlands (ERF). The identified gene has been shown to negatively regulate the expression of the caffeine metabolism genes and can thus be linked to coffee consumption. Further bioinformatics analysis of eQTL and histone marks from Roadmap data has evidenced a possible role of the identified SNPs in regulating PDSS2 gene expression through enhancers present in its intron. Our results highlight a novel gene which regulates coffee consumption by regulating the expression of the genes linked to caffeine metabolism. Further studies will be needed to clarify the biological mechanism which links PDSS2 and coffee consumption.
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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.