Coffee, Caffeine, and Human Genetics
Coffee Science and Biotechnology: Genomic Biochemical and Nanotechnological Perspectives, CRC Press, ss.87-122, 2026
- Yayın Türü: Kitapta Bölüm / Araştırma Kitabı
- Basım Tarihi: 2026
- Doi Numarası: 10.1201/9781003689393-4
- Yayınevi: CRC Press
- Sayfa Sayıları: ss.87-122
- Uşak Üniversitesi Adresli: Evet
Özet
Coffee is a globally consumed beverage with complex and sometimes contradictory associations with human health. Beyond caffeine, coffee contains numerous bioactive compounds whose concentrations vary by bean type, roasting, and preparation, making simple intake measures (e.g., cups per day) an imprecise proxy for biological exposure. This chapter synthesizes evidence from human genetics, epidemiology, and multi-omics to explain why coffee-related health outcomes differ markedly across individuals, populations, and endpoints. We frame coffee exposure using three complementary constructs: intake (habitual consumption behavior), internal dose (biologically proximate measures such as circulating caffeine and metabolites), and sensitivity (physiological response at a given dose). Genetic variation in caffeine metabolism (notably CYP1A2 and AHR) and pharmacodynamics (e.g., ADORA2A) contributes to heterogeneity in sleep, anxiety, cardiovascular responses, and disease-related phenotypes, and underpins the “caffeine paradox, " whereby higher genetically predicted intake may coincide with faster caffeine clearance rather than higher exposure. Genome-wide association studies reveal a polygenic architecture integrating metabolic, neurobehavioral, and sensory pathways, with important ancestry-specific loci that limit the portability of genetic instruments. Across neurological, cardiometabolic, renal, cancer, and pregnancy outcomes, Mendelian randomization generally indicates small average causal effects of coffee intake, while highlighting meaningful context-dependent and subgroup-specific associations. Multi-omic signatures, including DNA methylation, transcriptomics, metabolomics, and microbiome profiles, offer more refined exposure markers and mechanistic insights but require careful control for confounding, particularly smoking. Collectively, the evidence supports a context-dependent model of coffee biology rather than uniform benefit or harm. We conclude that precision nutrition approaches-integrating genetics, biomarkers, life stage, and clinical context-are better suited than one-size-fits-all recommendations to guide coffee consumption for specific health goals.