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Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
Hum Mol Genet 2011; 20(10):2071-7HM

Abstract

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.

Authors+Show Affiliations

deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. patrick.sulem@decode.isNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21357676

Citation

Sulem, Patrick, et al. "Sequence Variants at CYP1A1-CYP1A2 and AHR Associate With Coffee Consumption." Human Molecular Genetics, vol. 20, no. 10, 2011, pp. 2071-7.
Sulem P, Gudbjartsson DF, Geller F, et al. Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Hum Mol Genet. 2011;20(10):2071-7.
Sulem, P., Gudbjartsson, D. F., Geller, F., Prokopenko, I., Feenstra, B., Aben, K. K., ... Stefansson, K. (2011). Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Human Molecular Genetics, 20(10), pp. 2071-7. doi:10.1093/hmg/ddr086.
Sulem P, et al. Sequence Variants at CYP1A1-CYP1A2 and AHR Associate With Coffee Consumption. Hum Mol Genet. 2011 May 15;20(10):2071-7. PubMed PMID: 21357676.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. AU - Sulem,Patrick, AU - Gudbjartsson,Daniel F, AU - Geller,Frank, AU - Prokopenko,Inga, AU - Feenstra,Bjarke, AU - Aben,Katja K H, AU - Franke,Barbara, AU - den Heijer,Martin, AU - Kovacs,Peter, AU - Stumvoll,Michael, AU - Mägi,Reedik, AU - Yanek,Lisa R, AU - Becker,Lewis C, AU - Boyd,Heather A, AU - Stacey,Simon N, AU - Walters,G Bragi, AU - Jonasdottir,Adalbjorg, AU - Thorleifsson,Gudmar, AU - Holm,Hilma, AU - Gudjonsson,Sigurjon A, AU - Rafnar,Thorunn, AU - Björnsdottir,Gyda, AU - Becker,Diane M, AU - Melbye,Mads, AU - Kong,Augustine, AU - Tönjes,Anke, AU - Thorgeirsson,Thorgeir, AU - Thorsteinsdottir,Unnur, AU - Kiemeney,Lambertus A, AU - Stefansson,Kari, Y1 - 2011/02/28/ PY - 2011/3/2/entrez PY - 2011/3/2/pubmed PY - 2011/8/10/medline SP - 2071 EP - 7 JF - Human molecular genetics JO - Hum. Mol. Genet. VL - 20 IS - 10 N2 - 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. SN - 1460-2083 UR - https://www.unboundmedicine.com/medline/citation/21357676/Sequence_variants_at_CYP1A1_CYP1A2_and_AHR_associate_with_coffee_consumption_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddr086 DB - PRIME DP - Unbound Medicine ER -