Expressive

rs10425738 - CYP2G1P, CYP2G1P, CYP2B7P, CYP2B7P

Magnitude 2.2 · 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

  • Novel Association of Genetic Markers Affecting CYP2A6 activity and Lung Cancer Risk - Unknown journal (n.d.) · Unknown authors · PubMed 27488534

    ABSTRACT: Metabolism of nicotine by cytochrome CYP2A6 is a suspected determinant of smoking dose and, consequently, lung cancer risk. We conducted a genome-wide association study (GWAS) of CYP2A6 activity, as measured by the urinary ratio of trans-3′-hydroxycotinine and its glucuronide conjugate over cotinine (total 3HCOT/COT), among 2,239 smokers in the Multiethnic Cohort (MEC) study. We identified 248 CYP2A6 variants associated with CYP2A6 activity (p<5×10−8). CYP2A6 activity was correlated (r=0.32, p<0.0001) with total nicotine equivalents (a measure of nicotine uptake). When we examined the effect of these variants on lung cancer risk in the Transdisciplinary Research in Cancer of the Lung (TRICL) consortium GWAS dataset (13,479 cases, 43,218 controls), we found that the vast majo

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