Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
21876539
TITLE
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
ABSTRACT
Coffee consumption is a model for addictive behavior. We performed a meta-analysis of genome-wide association studies (GWASs) on coffee intake from 8 Caucasian cohorts (N=18 176) and sought replication of our top findings in a further 7929 individuals. We also performed a gene expression analysis treating different cell lines with caffeine. Genome-wide significant association was observed for two single-nucleotide polymorphisms (SNPs) in the 15q24 region. The two SNPs rs2470893 and rs2472297 (P-values=1.6 × 10(-11) and 2.7 × 10(-11)), which were also in strong linkage disequilibrium (r(2)=0.7) with each other, lie in the 23-kb long commonly shared 5' flanking region between CYP1A1 and CYP1A2 genes. CYP1A1 was found to be downregulated in lymphoblastoid cell lines treated with caffeine. CYP1A1 is known to metabolize polycyclic aromatic hydrocarbons, which are important constituents of coffee, whereas CYP1A2 is involved in the primary metabolism of caffeine. Significant evidence of association was also detected at rs382140 (P-value=3.9 × 10(-09)) near NRCAM-a gene implicated in vulnerability to addiction, and at another independent hit rs6495122 (P-value=7.1 × 10(-09))-an SNP associated with blood pressure-in the 15q24 region near the gene ULK3, in the meta-analysis of discovery and replication cohorts. Our results from GWASs and expression analysis also strongly implicate CAB39L in coffee drinking. Pathway analysis of differentially expressed genes revealed significantly enriched ubiquitin proteasome (P-value=2.2 × 10(-05)) and Parkinson's disease pathways (P-value=3.6 × 10(-05)).
DATE PUBLISHED
2012 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2011/08/31 06:00
pubmed 2011/08/31 06:00
medline 2013/04/24 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Amin N Amin N N Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Byrne E Byrne E E
Johnson J Johnson J J
Chenevix-Trench G Chenevix-Trench G G
Walter S Walter S S
Nolte IM Nolte I M IM
kConFab Investigators
Vink JM Vink J M JM
Rawal R Rawal R R
Mangino M Mangino M M
Teumer A Teumer A A
Keers JC Keers J C JC
Verwoert G Verwoert G G
Baumeister S Baumeister S S
Biffar R Biffar R R
Petersmann A Petersmann A A
Dahmen N Dahmen N N
Doering A Doering A A
Isaacs A Isaacs A A
Broer L Broer L L
Wray NR Wray N R NR
Montgomery GW Montgomery G W GW
Levy D Levy D D
Psaty BM Psaty B M BM
Gudnason V Gudnason V V
Chakravarti A Chakravarti A A
Sulem P Sulem P P
Gudbjartsson DF Gudbjartsson D F DF
Kiemeney LA Kiemeney L A LA
Thorsteinsdottir U Thorsteinsdottir U U
Stefansson K Stefansson K K
van Rooij FJ van Rooij F J A FJ
Aulchenko YS Aulchenko Y S YS
Hottenga JJ Hottenga J J JJ
Rivadeneira FR Rivadeneira F R FR
Hofman A Hofman A A
Uitterlinden AG Uitterlinden A G AG
Hammond CJ Hammond C J CJ
Shin SY Shin S-Y SY
Ikram A Ikram A A
Witteman JC Witteman J C M JC
Janssens AC Janssens A C J W AC
Snieder H Snieder H H
Tiemeier H Tiemeier H H
Wolfenbuttel BH Wolfenbuttel B H R BH
Oostra BA Oostra B A BA
Heath AC Heath A C AC
Wichmann E Wichmann E E
Spector TD Spector T D TD
Grabe HJ Grabe H J HJ
Boomsma DI Boomsma D I DI
Martin NG Martin N G NG
van Duijn CM van Duijn C M CM
INVESTIGATORS
JOURNAL
VOLUME: 17
ISSUE: 11
TITLE: Molecular psychiatry
ISOABBREVIATION: Mol Psychiatry
YEAR: 2012
MONTH: Nov
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1476-5578
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Mol Psychiatry
COUNTRY: England
ISSNLINKING: 1359-4184
NLMUNIQUEID: 9607835
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites J Nutr. 2010 May;140(5):1007-13 20335629
Cites Public Health Nutr. 2010 Aug;13(8):1215-20 20359377
Cites Nat Genet. 2009 Jun;41(6):677-87 19430479
Cites Am J Clin Nutr. 2010 Oct;92(4):922-7 20739424
Cites Gastroenterology. 2010 Nov;139(5):1699-710, 1710.e1-2 20600030
Cites Int J Epidemiol. 2011 Apr;40(2):294-307 20167617
Cites PLoS Genet. 2011 Apr;7(4):e1002033 21490707
Cites Hum Mol Genet. 2011 May 15;20(10):2071-7 21357676
Cites Twin Res. 2001 Dec;4(6):464-77 11780939
Cites Pharmacogenetics. 2002 Aug;12(6):473-8 12172216
Cites Neuropsychopharmacology. 2004 Mar;29(3):558-65 14666117
Cites JAMA. 2004 Mar 10;291(10):1213-9 15010442
Cites Proc Natl Acad Sci U S A. 1989 Oct;86(20):7696-700 2813353
Cites Trends Pharmacol Sci. 1990 Sep;11(9):355-6 2238090
Cites Mutat Res. 1990 Dec;245(4):251-7 2266977
Cites Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7238-41 1678519
Cites J Subst Abuse. 1990;2(1):39-50 2136102
Cites Pharmacogenetics. 1992 Apr;2(2):73-7 1302044
Cites Clin Pharmacol Ther. 1993 May;53(5):503-14 8491061
Cites PLoS One. 2007;2(12):e1274 18060068
Cites Twin Res Hum Genet. 2008 Apr;11(2):165-73 18361718
Cites Genes Brain Behav. 2008 Jun;7(4):470-80 18081712
Cites Oncogene. 2007 May 3;26(20):2873-84 17086209
Cites Cancer Epidemiol Biomarkers Prev. 2007 May;16(5):912-6 17507615
Cites Bioinformatics. 2007 May 15;23(10):1294-6 17384015
Cites Nature. 2007 Jun 7;447(7145):661-78 17554300
Cites Nutr Cancer. 2007;58(1):22-7 17571963
Cites Nat Genet. 2007 Jul;39(7):906-13 17572673
Cites Am J Clin Nutr. 2007 Jul;86(1):240-4 17616786
Cites Br J Cancer. 2007 Aug 20;97(4):531-8 17667921
Cites Nat Genet. 2007 Oct;39(10):1217-24 17873874
Cites Am J Hum Genet. 2007 Nov;81(5):913-26 17924335
Cites Eur J Hum Genet. 2004 Jul;12(7):527-34 15054401
Cites EMBO Rep. 2004 Jul;5(7):681-5 15229644
Cites Psychopharmacology (Berl). 2004 Oct;176(1):1-29 15448977
Cites Mutat Res. 1979 Oct;68(2):101-6 390384
Cites N Engl J Med. 1981 Mar 12;304(11):630-3 7453739
Cites Int J Cancer. 1981 Dec;28(6):691-3 7333704
Cites Food Chem Toxicol. 1989 Apr;27(4):227-32 2659457
Cites Neuropsychopharmacology. 2008 Nov;33(12):2791-800 18305461
Cites Twin Res Hum Genet. 2009 Apr;12(2):127-31 19335181
Cites Physiol Genomics. 2009 May 13;37(3):199-210 19258493
Cites Addiction. 2008 Dec;103(12):2054-61 19469749
Cites PLoS Genet. 2009 Jun;5(6):e1000529 19543373
Cites J Hypertens. 2009 Aug;27(8):1594-601 19451835
Cites Annu Rev Genomics Hum Genet. 2009;10:387-406 19715440
Cites Eur J Epidemiol. 2009;24(9):553-72 19728115
Cites Nat Genet. 2009 Oct;41(10):1088-93 19734902
Cites Nat Genet. 2009 Oct;41(10):1094-9 19734903
Cites Am J Hum Genet. 2009 Nov;85(5):750-5 19896111
Cites Nucleic Acids Res. 2010 Jan;38(Database issue):D204-10 20015972
Cites Diabetologia. 2009 Dec;52(12):2561-9 19727658
Cites Rev Neurol. 2010 Feb 16-28;50(4):221-9 20198594
Cites BMC Bioinformatics. 2010;11:134 20233392
Cites Eur J Clin Nutr. 1999 Nov;53(11):831-9 10556993
Cites Pharmacogenetics. 2001 Feb;11(1):1-6 11207026
Cites Ann Neurol. 2001 Jul;50(1):56-63 11456310
Cites Soz Praventivmed. 2001;46(3):186-94 11565448
Cites Food Addit Contam. 2001 Dec;18(12):1075-87 11761118
Cites J Toxicol Environ Health. 1993 Oct-Nov;40(2-3):317-35 7693960
Cites Ann Epidemiol. 1993 Jul;3(4):375-81 8275213
Cites Mutat Res. 1994 Apr;317(2):145-62 7511793
Cites Neuropsychobiology. 1994;30(2-3):124-5 7800158
Cites Psychopharmacology (Berl). 1992;109(1-2):121-6 1365645
Cites Psychopharmacology (Berl). 1994 Apr;114(3):424-32 7855200
Cites Neuropsychobiology. 1995;31(4):195-9 7659200
Cites Neuropsychobiology. 1995;31(4):202-3 7659202
Cites J R Soc Med. 1995 Aug;88(8):437-40 7562825
Cites J Subst Abuse. 1996;8(1):19-31 8743766
Cites Psychophysiology. 1996 May;33(3):306-9 8936399
Cites Mol Psychiatry. 1998 Jan;3(1):81-5 9491818
Cites Biochem Biophys Res Commun. 1998 Feb 24;243(3):808-10 9500998
Cites Biochem Pharmacol. 1998 Mar 15;55(6):825-30 9586955
Cites J Chromatogr B Biomed Sci Appl. 1998 May 8;709(1):27-34 9653923
Cites Toxicol Appl Pharmacol. 1998 Sep;152(1):232-9 9772218
Cites Drug Alcohol Depend. 1998 Oct 1;52(2):99-107 9800139
Cites Hypertension. 1999 Feb;33(2):647-52 10024321
Cites Pharmacol Rev. 1999 Mar;51(1):83-133 10049999
Cites Br J Clin Pharmacol. 1999 Apr;47(4):445-9 10233211
Cites Hum Psychopharmacol. 2005 Jan;20(1):47-53 15568206
Cites Toxicol Lett. 2005 Apr 28;156(3):331-9 15763632
Cites Gesundheitswesen. 2005 Aug;67 Suppl 1:S26-30 16032514
Cites Addiction. 2005 Oct;100(10):1510-7 16185212
Cites Neuropsychopharmacology. 2006 Mar;31(3):572-84 16123759
Cites Crit Rev Food Sci Nutr. 2006;46(2):101-23 16507475
Cites JAMA. 2006 Mar 8;295(10):1135-41 16522833
Cites Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):261-8 16526044
Cites Chronobiol Int. 2006;23(1-2):63-70 16687280
Cites Arch Intern Med. 2006 Jun 26;166(12):1311-6 16801515
Cites Psychiatr Genet. 2006 Dec;16(6):251-7 17106428
Cites Arch Intern Med. 2007 Jan 22;167(2):204-5; author reply 205 17242323
Cites Twin Res Hum Genet. 2006 Dec;9(6):849-57 17254420
Cites Twin Res Hum Genet. 2006 Dec;9(6):899-906 17254428
Cites Hum Genet. 2007 Nov;122(3-4):397-407 17671797
Cites Nat Genet. 2007 Dec;39(12):1494-9 17982457
Cites Nature. 2010 Apr 1;464(7289):773-7 20220756
GRANTS
GRANTID AGENCY COUNTRY
R01 AA007535 NIAAA NIH HHS United States
R01 AA014041 NIAAA NIH HHS United States
K05 AA017688 NIAAA NIH HHS United States
R01 MH066206 NIMH NIH HHS United States
AA13320 NIAAA NIH HHS United States
AA13321 NIAAA NIH HHS United States
AA10248 NIAAA NIH HHS United States
Biotechnology and Biological Sciences Research Council United Kingdom
R01 AA013326 NIAAA NIH HHS United States
MH66206 NIMH NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
AA14041 NIAAA NIH HHS United States
SRF/01/010 Department of Health United Kingdom
Wellcome Trust United Kingdom
AA13326 NIAAA NIH HHS United States
R01 AA013320 NIAAA NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Antigens, Neoplasm genetics
Apoptosis Regulatory Proteins genetics
Caffeine pharmacology
Cell Adhesion Molecules genetics
Cell Line genetics
Coffee genetics
Cytochrome P-450 CYP1A1 genetics
Cytochrome P-450 CYP1A2 genetics
Drinking genetics
European Continental Ancestry Group genetics
Female genetics
Gene Expression drug effects
Gene Expression Profiling methods
Genetic Predisposition to Disease genetics
Genome-Wide Association Study methods
Humans methods
Male methods
Parkinson Disease genetics
Polymorphism, Single Nucleotide genetics
Protein-Serine-Threonine Kinases genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Antigens, Neoplasm
0 Apoptosis Regulatory Proteins
0 CAB39L protein, human
0 Cell Adhesion Molecules
0 Coffee
0 NRCAM protein, human
3G6A5W338E Caffeine
EC 1.14.14.1 CYP1A1 protein, human
EC 1.14.14.1 CYP1A2 protein, human
EC 1.14.14.1 Cytochrome P-450 CYP1A1
EC 1.14.14.1 Cytochrome P-450 CYP1A2
EC 2.7.11.1 Protein-Serine-Threonine Kinases
EC 2.7.11.1 ULK3 protein, human
OTHER ID's
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Last Modified: Oct 15 2007