Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

The Coffee and Caffeine Genetics Consortium, Cornelis, M. C., Byrne, E. M., Esko, T., Nalls, M. A., Ganna, A., Paynter, N., Monda, K. L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J. S., Huikari, V., Cavadino, A., Nolte, I. M., Teumer, A., Yu, K., Marques-Vidal, P., Rawa, R., Manichaikul, A., Wojczynski, M. K., Vink, J.,M., Zhao, J. H., Burlutsky, G., Lahti, J., Mikkila, V., Lemaitre,R. N., Eriksson, J., Musani, S. K., Tanaka, T., Geller, F., Luan, J., Hui, J., Magi,R., Dimitriou, M., Garcia M. E., Ho, W.-K., Wright ,M. J., Rose, L. M., Magnusson, P. K. E., Pedersen, N. L., Couper, D., Oostra, B. A., Hofman, A., Ikram, M. A., Tiemeier, H. W., Uitterlinden, A. G., van Rooij, F. J. A., Barroso, I., Johansson, I., Xue, L., Kaakinen, M., Milani, L., Power, C., Snieder, H., Stolk, R. P., Baumeister, S. E., Biffar, R., Gu, F., Bastardot, F., Kutalik, Z., Jacobs Jnr, D. R., Forouhi, N. G., Mihailov, E., Lind, L., Lindgren, C., MichaeLsson, K., Morris, A., Jensen, M., Khaw, K. -T., Luben, R. N., Wang, J. J., MaNnisto, S., PeraLa, M. -M., Kahonen, M., LehtimaKi, T., Viikari, J., Mozaffarian, D., Mukamal, K., Psaty, B. M., Doring, A., Heath, A. C., Montgomery, G. W., Dahmen, N., Carithers, T., Tucker, K. L., Ferrucci, L., Boyd, H. A., Melbye, M., Treur, J. L., Mellstrom, D., Hottenga, J. J., Prokopenko, I., Tonjes, A., Deloukas, P., Kanoni, S., Lorentzon, M., Houston, D. K., Liu, Y., Danesh, J., Rasheed, A., Mason, M. A., Zonderman, A. B., Franke, L., Kristal, B. S., Karjalainen, J., Reed, D. R., Westra, H. -J., Evans, M. K., Saleheen, D., Harris, T. B., Dedoussis, G., Curhan, G., Stumvoll, M., Beilby, J., Pasquale, L. R., Feenstra, B., Bandinelli, S., Ordovas, J. M., Chan, A. T., Peters, U., Ohlsson, C., Gieger, C., Martin, N. G., Waldenberger, M., Siscovick, D. S., Raitakari, O., Eriksson, J. G., Mitchell, P., Hunter, D. J., Kraft, P., Rimm, E. B., Boomsma, D. I., Borecki, I. B., Loos, R. J. F., Wareham, N. J., Vollenweider, P., Caporaso, N., Grabe, H. J., Neuhouser, M. L., Wolffenbuttel, B. H. R., Hu, F. B., Hypponen, E., Jarvelin, M. -R., Cupples, L. A., Franks, P. W., Ridker, P. M., van Duijn, C. M., Heiss, G., Metspalu, A., North, K. E., Ingelsson, E., Nettleton, J. A., van Dam, R. M., Chasman, D. I., International Parkinson's Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC) and UK Brain Expression Consortium (UKBEC) (2014) Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. Molecular Psychiatry, 20 5: 647-656. doi:10.1038/mp.2014.107

Author The Coffee and Caffeine Genetics Consortium
Cornelis, M. C.
Byrne, E. M.
Esko, T.
Nalls, M. A.
Ganna, A.
Paynter, N.
Monda, K. L.
Amin, N.
Fischer, K.
Renstrom, F.
Ngwa, J. S.
Huikari, V.
Cavadino, A.
Nolte, I. M.
Teumer, A.
Yu, K.
Marques-Vidal, P.
Rawa, R.
Manichaikul, A.
Wojczynski, M. K.
Vink, J.,M.
Zhao, J. H.
Burlutsky, G.
Lahti, J.
Mikkila, V.
Lemaitre,R. N.
Eriksson, J.
Musani, S. K.
Tanaka, T.
Geller, F.
Luan, J.
Hui, J.
Dimitriou, M.
Garcia M. E.
Ho, W.-K.
Wright ,M. J.
Rose, L. M.
Magnusson, P. K. E.
Pedersen, N. L.
Couper, D.
Oostra, B. A.
Hofman, A.
Ikram, M. A.
Tiemeier, H. W.
Uitterlinden, A. G.
van Rooij, F. J. A.
Barroso, I.
Johansson, I.
Xue, L.
Kaakinen, M.
Milani, L.
Power, C.
Snieder, H.
Stolk, R. P.
Baumeister, S. E.
Biffar, R.
Gu, F.
Bastardot, F.
Kutalik, Z.
Jacobs Jnr, D. R.
Forouhi, N. G.
Mihailov, E.
Lind, L.
Lindgren, C.
MichaeLsson, K.
Morris, A.
Jensen, M.
Khaw, K. -T.
Luben, R. N.
Wang, J. J.
MaNnisto, S.
PeraLa, M. -M.
Kahonen, M.
LehtimaKi, T.
Viikari, J.
Mozaffarian, D.
Mukamal, K.
Psaty, B. M.
Doring, A.
Heath, A. C.
Montgomery, G. W.
Dahmen, N.
Carithers, T.
Tucker, K. L.
Ferrucci, L.
Boyd, H. A.
Melbye, M.
Treur, J. L.
Mellstrom, D.
Hottenga, J. J.
Prokopenko, I.
Tonjes, A.
Deloukas, P.
Kanoni, S.
Lorentzon, M.
Houston, D. K.
Liu, Y.
Danesh, J.
Rasheed, A.
Mason, M. A.
Zonderman, A. B.
Franke, L.
Kristal, B. S.
Karjalainen, J.
Reed, D. R.
Westra, H. -J.
Evans, M. K.
Saleheen, D.
Harris, T. B.
Dedoussis, G.
Curhan, G.
Stumvoll, M.
Beilby, J.
Pasquale, L. R.
Feenstra, B.
Bandinelli, S.
Ordovas, J. M.
Chan, A. T.
Peters, U.
Ohlsson, C.
Gieger, C.
Martin, N. G.
Waldenberger, M.
Siscovick, D. S.
Raitakari, O.
Eriksson, J. G.
Mitchell, P.
Hunter, D. J.
Kraft, P.
Rimm, E. B.
Boomsma, D. I.
Borecki, I. B.
Loos, R. J. F.
Wareham, N. J.
Vollenweider, P.
Caporaso, N.
Grabe, H. J.
Neuhouser, M. L.
Wolffenbuttel, B. H. R.
Hu, F. B.
Hypponen, E.
Jarvelin, M. -R.
Cupples, L. A.
Franks, P. W.
Ridker, P. M.
van Duijn, C. M.
Heiss, G.
Metspalu, A.
North, K. E.
Ingelsson, E.
Nettleton, J. A.
van Dam, R. M.
Chasman, D. I.
International Parkinson's Disease Genomics Consortium (IPDGC)
North American Brain Expression Consortium (NABEC)
UK Brain Expression Consortium (UKBEC)
Total Author Count Override 158
Title Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption
Journal name Molecular Psychiatry   Check publisher's open access policy
ISSN 1476-5578
Publication date 2014-10-07
Year available 2014
Sub-type Article (original research)
DOI 10.1038/mp.2014.107
Open Access Status
Volume 20
Issue 5
Start page 647
End page 656
Total pages 10
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2015
Language eng
Formatted abstract
Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91 462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03–0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 × 10−8).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online ahead of print 7 October 2014.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2015 Collection
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Citation counts: TR Web of Science Citation Count  Cited 9 times in Thomson Reuters Web of Science Article | Citations
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Created: Mon, 02 Mar 2015, 13:29:41 EST by Susan Day on behalf of Queensland Brain Institute