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 Becker, Heather A. Boyd, Simon N. Stacey, G. Bragi Walters, Adalbjorg Jonasdottir, Gudmar Thorleifsson, Hilma Holm, Sigurjon A. GudjonssonThorunn Rafnar, Gyda Björnsdottir, Diane M Becker, Mads Melbye, Augustine Kong, Anke Tönjes, Thorgeir Thorgeirsson, Unnur Thorsteinsdottir, Lambertus A. Kiemeney, Kari Stefansson

Research output: Contribution to journalArticlepeer-review

86 Scopus citations


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 nonsmokers.

Original languageEnglish (US)
Article numberddr086
Pages (from-to)2071-2077
Number of pages7
JournalHuman molecular genetics
Issue number10
StatePublished - May 2011

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption'. Together they form a unique fingerprint.

Cite this