Journal Article

Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption

Patrick Sulem, Daniel F. Gudbjartsson, Frank Geller, Inga Prokopenko, Bjarke Feenstra, Katja K.H. Aben, Barbara Franke, Martin den Heijer, Peter Kovacs, Michael Stumvoll, Reedik Mägi, Lisa R. Yanek, Lewis C. Becker, Heather A. Boyd, Simon N. Stacey, G. Bragi Walters, Adalbjorg Jonasdottir, Gudmar Thorleifsson, Hilma Holm, Sigurjon A. Gudjonsson, Thorunn Rafnar, Gyda Björnsdottir, Diane M. Becker, Mads Melbye, Augustine Kong, Anke Tönjes, Thorgeir Thorgeirsson, Unnur Thorsteinsdottir, Lambertus A. Kiemeney and Kari Stefansson

in Human Molecular Genetics

Volume 20, issue 10, pages 2071-2077
Published in print May 2011 | ISSN: 0964-6906
Published online February 2011 | e-ISSN: 1460-2083 | DOI:
Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption

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Coffee is the most commonly used stimulant and caffeine is its main psychoactive ingredient. The heritability of coffee consumption has been estimated at around 50%. We performed a meta-analysis of four genome-wide association studies of coffee consumption among coffee drinkers from Iceland (n = 2680), the Netherlands (n = 2791), the Sorbs Slavonic population isolate in Germany (n = 771) and the USA (n = 369) using both directly genotyped and imputed single nucleotide polymorphisms (SNPs) (2.5 million SNPs). SNPs at the two most significant loci were also genotyped in a sample set from Iceland (n = 2430) and a Danish sample set consisting of pregnant women (n = 1620). Combining all data, two sequence variants significantly associated with increased coffee consumption: rs2472297-T located between CYP1A1 and CYP1A2 at 15q24 (P = 5.4 · 10−14) and rs6968865-T near aryl hydrocarbon receptor (AHR) at 7p21 (P = 2.3 · 10−11). An effect of ∼0.2 cups a day per allele was observed for both SNPs. CYP1A2 is the main caffeine metabolizing enzyme and is also involved in drug metabolism. AHR detects xenobiotics, such as polycyclic aryl hydrocarbons found in roasted coffee, and induces transcription of CYP1A1 and CYP1A2. The association of these SNPs with coffee consumption was present in both smokers and non-smokers.

Journal Article.  4367 words.  Illustrated.

Subjects: Genetics and Genomics

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