Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM
| Autor: | A. G. Uitterlinden, S. Y. Shin, Massimo Mangino, N. Dahmen, Lambertus A. Kiemeney, Dorret I. Boomsma, Arfan Ikram, B.A. Oostra, D. F. Gudbjartsson, Germaine C. Verwoert, Aravinda Chakravarti, Vilmundur Gudnason, Stefan Walter, J. C. Keers, Unnur Thorsteinsdottir, F. J.A. Van Rooij, Henning Tiemeier, Grant W. Montgomery, P. Sulem, Rajesh Rawal, Tim D. Spector, Erich Wichmann, Enda M. Byrne, Nicholas G. Martin, J. C. M. Witteman, Sebastian E. Baumeister, Najaf Amin, Christopher J Hammond, C.M. van Duijn, Astrid Petersmann, Julie Johnson, Aaron Isaacs, Georgia Chenevix-Trench, A. C. J. W. Janssens, Alexander Teumer, J. M. Vink, Ilja M. Nolte, Y S Aulchenko, Angela Doering, Linda Broer, A. C. Heath, B. H.R. Wolfenbuttel, Bruce M. Psaty, Harold Snieder, Fernando Rivadeneira, Kari Stefansson, Albert Hofman, Naomi R. Wray, J. J. Hottenga, Hans-Jörgen Grabe, Rainer Biffar, Daniel Levy |
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| Přispěvatelé: | Science in Healthy Ageing & healthcaRE (SHARE), Life Course Epidemiology (LCE), Faculteit Medische Wetenschappen/UMCG, Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Biological Psychology, Neuroscience Campus Amsterdam - Addictive Behavior, EMGO+ - Lifestyle, Overweight and Diabetes, Epidemiology, Public Health, Hematology, Internal Medicine, Department of Strategic Management and Entrepreneurship, Child and Adolescent Psychiatry / Psychology, Clinical Genetics |
| Rok vydání: | 2011 |
| Předmět: |
Netherlands Twin Register (NTR)
PSYCHOMOTOR PERFORMANCE Male Linkage disequilibrium Parkinson's disease Gene Expression Genome-wide association study BLOOD-PRESSURE Aetiology screening and detection [ONCOL 5] CAFFEINE CONSUMPTION Caffeine/pharmacology chemistry.chemical_compound 0302 clinical medicine PARKINSONS-DISEASE Polymorphism (computer science) CYP1A2 GENOTYPE European Continental Ancestry Group/genetics Parkinson Disease/genetics NRCAM GENE-EXPRESSION Genetics 0303 health sciences Genetic Predisposition to Disease/genetics Parkinson Disease Single Nucleotide HUMAN BRAIN 3. Good health Drinking/genetics Antigens Neoplasm/genetics Psychiatry and Mental health Genome-Wide Association Study/methods Female Original Article Caffeine Cell Adhesion Molecules/genetics MESSENGER-RNA Protein-Serine-Threonine Kinases/genetics coffee Drinking TYPE-2 DIABETES-MELLITUS Single-nucleotide polymorphism Gene Expression/drug effects Biology Protein Serine-Threonine Kinases Polymorphism Single Nucleotide White People Cell Line 03 medical and health sciences Cellular and Molecular Neuroscience Cytochrome P-450 CYP1A2/genetics Antigens Neoplasm Cytochrome P-450 CYP1A2 CAB39L Cytochrome P-450 CYP1A1 CYP1A1/CYP1A2 Humans Genetic Predisposition to Disease Antigens Polymorphism Molecular Biology Gene Molecular epidemiology Aetiology screening and detection [NCEBP 1] 030304 developmental biology Genetic association Neoplasm/genetics Cytochrome P-450 CYP1A1/genetics Coffee/genetics Gene Expression Profiling Gene expression profiling chemistry Apoptosis Regulatory Proteins/genetics Gene Expression Profiling/methods Apoptosis Regulatory Proteins AGED FINNISH MEN Cell Adhesion Molecules 030217 neurology & neurosurgery Genome-Wide Association Study P450 |
| Zdroj: | Molecular Psychiatry Molecular Psychiatry, 17(11), 1116-1129. Nature Publishing Group Amin, N, Byrne, E, Johnson, J, Chenevix-Trench, G, Walter, S, Nolte, I M, Vink, J M, Rawal, R, Mangino, M, Teumer, A, Keers, J C, Verwoert, G, Baumeister, S, Biffar, R, Petersmann, A, Dahmen, N, Doering, A, Isaacs, A, Broer, L, Wray, N R, Montgomery, G W, Levy, D, Psaty, B M, Gudnason, V, Chakravarti, A, Sulem, P, Gudbjartsson, D F, Kiemeney, L A, Thorsteinsdottir, U, Stefansson, K, van Rooij, F J A, Aulchenko, Y S, Rivadeneira, F, Hofman, A, Uitterlinden, A G, Hammond, C J, Shin, S Y, Arfan Ikram, M, Witteman, J C M, Janssens, A C J W, Snieder, H, Tiemeier, H, Wolfenbuttel, B H R, Oostra, B A, Heath, A C, Wichmann, E, Spector, T D, Grabe, H J, Boomsma, D I, Martin, N G & van Duijn, C M 2012, ' Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM ', Molecular Psychiatry, vol. 17, no. 11, pp. 1116-1129 . https://doi.org/10.1038/mp.2011.101 Molecular Psychiatry, 17, 11, pp. 1116-29 Molecular Psychiatry, 17(11), 1116-29. Nature Publishing Group Molecular Psychiatry, 17, 1116-29 Molecular Psychiatry; Vol 17 |
| ISSN: | 1476-5578 1359-4184 |
| DOI: | 10.1038/mp.2011.101 |
| Popis: | 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 x 10(-11) and 2.7 x 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 x 10(-09)) near NRCAM-a gene implicated in vulnerability to addiction, and at another independent hit rs6495122 (P-value = 7.1 x 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 x 10(-05)) and Parkinson's disease pathways (P-value = 3.6 x 10(-05)). Molecular Psychiatry (2012) 17, 1116-1129; doi: 10.1038/mp.2011.101; published online 30 August 2011 |
| Databáze: | OpenAIRE |
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