rs11668399 - CYP2F2P - CYP2A6

Magnitude 4.5 · 2 studies on file

Reported associations

• Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. - Human molecular genetics (2017) · Cornelis MC, Kacprowski T, Menni C, Gustafsson S, Pivin E, Adamski J, Artati A, Eap CB, Ehret G, Friedrich N, Ganna A, Guessous I, Homuth G, Lind L, Magnusson PK, Mangino M, Pedersen NL, Pietzner M, Suhre K, Völzke H, Bochud M, Spector TD, Grabe HJ, Ingelsson E · PubMed 27702941

  Caffeine is the most widely consumed psychoactive substance in the world and presents with wide interindividual variation in metabolism. This variation may modify potential adverse or beneficial effects of caffeine on health. We conducted a genome-wide association study (GWAS) of plasma caffeine, paraxanthine, theophylline, theobromine and paraxanthine/caffeine ratio among up to 9,876 individuals of European ancestry from six population-based studies. A single SNP at 6p23 (near CD83) and several SNPs at 7p21 (near AHR), 15q24 (near CYP1A2) and 19q13.2 (near CYP2A6) met GW-significance (P < 5 × 10-8) and were associated with one or more metabolites. Variants at 7p21 and 15q24 associated with higher plasma caffeine and lower plasma paraxanthine/caffeine (slow caffeine metabolism) were previ

• Genetic diversity fuels gene discovery for tobacco and alcohol use - Unknown journal (n.d.) · Unknown authors · PubMed 36477530

  ABSTRACT: Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in s

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