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163 results on '"Dahmen, Norbert"'

1. Evidence for a shared genetic contribution to loneliness and borderline personality disorder

Author

Schulze, Anna, Streit, Fabian, Zillich, Lea, Awasthi, Swapnil, Hall, Alisha S. M., Jungkunz, Martin, Kleindienst, Nikolaus, Frank, Josef, Schwarze, Cornelia E., Dahmen, Norbert, Schott, Björn H., Nöthen, Markus, Mobascher, Arian, Rujescu, Dan, Lieb, Klaus, Roepke, Stefan, Herpertz, Sabine C., Schmahl, Christian, Bohus, Martin, Ripke, Stephan, Rietschel, Marcella, Lis, Stefanie, and Witt, Stephanie

Published
2023
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2. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

Author

Walters, Raymond K, Polimanti, Renato, Johnson, Emma C, McClintick, Jeanette N, Adams, Mark J, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Fontanillas, Pierre, Foo, Jerome C, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffmann, Per, Jan Hottenga, Jouke, Kennedy, Martin A, Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Pearson, John F, Peterson, Roseann E, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Elson, Sarah L, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, and Wodarz, Norbert

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Behavioral and Social Science, Genetics, Human Genome, Prevention, Brain Disorders, Neurosciences, Mental Health, Substance Misuse, Alcoholism, Alcohol Use and Health, Mental Illness, 2.3 Psychological, social and economic factors, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Alcoholism, Alleles, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Mental Disorders, Phenotype, Polymorphism, Single Nucleotide, 23andMe Research Team, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest genome-wide association study to date of DSM-IV-diagnosed AD. Genome-wide data on 14,904 individuals with AD and 37,944 controls from 28 case-control and family-based studies were meta-analyzed, stratified by genetic ancestry (European, n = 46,568; African, n = 6,280). Independent, genome-wide significant effects of different ADH1B variants were identified in European (rs1229984; P = 9.8 × 10-13) and African ancestries (rs2066702; P = 2.2 × 10-9). Significant genetic correlations were observed with 17 phenotypes, including schizophrenia, attention deficit-hyperactivity disorder, depression, and use of cigarettes and cannabis. The genetic underpinnings of AD only partially overlap with those for alcohol consumption, underscoring the genetic distinction between pathological and nonpathological drinking behaviors.

Published
2018

3. Borderline personality disorder and the big five: molecular genetic analyses indicate shared genetic architecture with neuroticism and openness

Author

Streit, Fabian, Witt, Stephanie H., Awasthi, Swapnil, Foo, Jerome C., Jungkunz, Martin, Frank, Josef, Colodro-Conde, Lucía, Hindley, Guy, Smeland, Olav B., Maslahati, Tolou, Schwarze, Cornelia E., Dahmen, Norbert, Schott, Björn H., Kleindienst, Nikolaus, Hartmann, Annette, Giegling, Ina, Zillich, Lea, Sirignano, Lea, Poisel, Eric, Chen, Chi-Hua, Nöthen, Markus M., Mobascher, Arian, Rujescu, Dan, Lieb, Klaus, Roepke, Stefan, Schmahl, Christian, Bohus, Martin, Ripke, Stephan, Rietschel, Marcella, and Andreassen, Ole A.

Published
2022
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4. Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Author

Schwantes-An, Tae-Hwi, Zhang, Juan, Chen, Li-Shiun, Hartz, Sarah M, Culverhouse, Robert C, Chen, Xiangning, Coon, Hilary, Frank, Josef, Kamens, Helen M, Konte, Bettina, Kovanen, Leena, Latvala, Antti, Legrand, Lisa N, Maher, Brion S, Melroy, Whitney E, Nelson, Elliot C, Reid, Mark W, Robinson, Jason D, Shen, Pei-Hong, Yang, Bao-Zhu, Andrews, Judy A, Aveyard, Paul, Beltcheva, Olga, Brown, Sandra A, Cannon, Dale S, Cichon, Sven, Corley, Robin P, Dahmen, Norbert, Degenhardt, Louisa, Foroud, Tatiana, Gaebel, Wolfgang, Giegling, Ina, Glatt, Stephen J, Grucza, Richard A, Hardin, Jill, Hartmann, Annette M, Heath, Andrew C, Herms, Stefan, Hodgkinson, Colin A, Hoffmann, Per, Hops, Hyman, Huizinga, David, Ising, Marcus, Johnson, Eric O, Johnstone, Elaine, Kaneva, Radka P, Kendler, Kenneth S, Kiefer, Falk, Kranzler, Henry R, Krauter, Ken S, Levran, Orna, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Martin, Nicholas G, Mattheisen, Manuel, Montgomery, Grant W, Müller-Myhsok, Bertram, Murphy, Michael F, Neale, Michael C, Nikolov, Momchil A, Nishita, Denise, Nöthen, Markus M, Nurnberger, John, Partonen, Timo, Pergadia, Michele L, Reynolds, Maureen, Ridinger, Monika, Rose, Richard J, Rouvinen-Lagerström, Noora, Scherbaum, Norbert, Schmäl, Christine, Soyka, Michael, Stallings, Michael C, Steffens, Michael, Treutlein, Jens, Tsuang, Ming, Wall, Tamara L, Wodarz, Norbert, Yuferov, Vadim, Zill, Peter, Bergen, Andrew W, Chen, Jingchun, Cinciripini, Paul M, Edenberg, Howard J, Ehringer, Marissa A, Ferrell, Robert E, Gelernter, Joel, Goldman, David, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Kaprio, Jaakko, Kreek, Mary Jeanne, Kremensky, Ivo M, Madden, Pamela AF, McGue, Matt, Munafò, Marcus R, and Philibert, Robert A

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Drug Abuse (NIDA only), Substance Misuse, Brain Disorders, Neurosciences, Genetics, Mental health, Good Health and Well Being, Adolescent, Adult, Alleles, Case-Control Studies, Child, Cohort Studies, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Polymorphism, Single Nucleotide, Receptors, Opioid, mu, Sample Size, Substance-Related Disorders, White People, Addiction, Substance dependence, OPRM1, Opioid receptor, Single nucleotide polymorphism, Genetic association, Zoology, Genetics & Heredity, Biomedical and clinical sciences, Health sciences
Abstract

The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) in OPRM1 has been extensively studied, yet its role in addiction has remained unclear, with conflicting association findings. To resolve the question of what effect, if any, rs1799971 has on substance dependence risk, we conducted collaborative meta-analyses of 25 datasets with over 28,000 European-ancestry subjects. We investigated non-specific risk for "general" substance dependence, comparing cases dependent on any substance to controls who were non-dependent on all assessed substances. We also examined five specific substance dependence diagnoses: DSM-IV alcohol, opioid, cannabis, and cocaine dependence, and nicotine dependence defined by the proxy of heavy/light smoking (cigarettes-per-day >20 vs. ≤ 10). The G allele showed a modest protective effect on general substance dependence (OR = 0.90, 95% C.I. [0.83-0.97], p value = 0.0095, N = 16,908). We observed similar effects for each individual substance, although these were not statistically significant, likely because of reduced sample sizes. We conclude that rs1799971 contributes to mechanisms of addiction liability that are shared across different addictive substances. This project highlights the benefits of examining addictive behaviors collectively and the power of collaborative data sharing and meta-analyses.

Published
2016

6. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Author

Michailidou, Kyriaki, Hall, Per, Gonzalez-Neira, Anna, Ghoussaini, Maya, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Bojesen, Stig E, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Hopper, John L, Southey, Melissa C, Makalic, Enes, Schmidt, Daniel F, Uitterlinden, Andre G, Hofman, Albert, Hunter, David J, Chanock, Stephen J, Vincent, Daniel, Bacot, François, Tessier, Daniel C, Canisius, Sander, Wessels, Lodewyk FA, Haiman, Christopher A, Shah, Mitul, Luben, Robert, Brown, Judith, Luccarini, Craig, Schoof, Nils, Humphreys, Keith, Li, Jingmei, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Stevens, Kristen N, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Johnson, Nichola, Aitken, Zoe, Aaltonen, Kirsimari, Heikkinen, Tuomas, Broeks, Annegien, Veer, Laura J Van't, van der Schoot, C Ellen, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Pita, Guillermo, Alonso, M Rosario, Cox, Angela, Brock, Ian W, Cross, Simon S, Reed, Malcolm WR, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, and Henderson, Brian E

Subjects
Biological Sciences, Genetics, Human Genome, Prevention, Breast Cancer, Cancer, Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Breast and Ovarian Cancer Susceptibility Collaboration, Hereditary Breast and Ovarian Cancer Research Group Netherlands, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

Published
2013

7. A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: a two-stage design with replication

Author

Hein, Rebecca, Flesch-Janys, Dieter, Dahmen, Norbert, Beckmann, Lars, Lindström, Sara, Schoof, Nils, Czene, Kamila, Mittelstraß, Kirstin, Illig, Thomas, Seibold, Petra, Behrens, Sabine, Humphreys, Keith, Li, Jingmei, Liu, Jianjun, Olson, Janet E, Wang, Xianshu, Hankinson, Susan E, Truong, Thérèse, Menegaux, Florence, dos Santos Silva, Isabel, Johnson, Nichola, The GENICA Network, Chen, Shou-Tung, Yu, Jyh-Cherng, Ziogas, Argyrios, Kataja, Vesa, Kosma, Veli-Matti, Mannermaa, Arto, Anton-Culver, Hoda, Shen, Chen-Yang, Brauch, Hiltrud, Peto, Julian, Guénel, Pascal, Kraft, Peter, Couch, Fergus J, Easton, Douglas F, Hall, Per, and Chang-Claude, Jenny

Subjects
Cancer, Aging, Prevention, Breast Cancer, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Carcinoma, Ductal, Breast, Carcinoma, Lobular, Case-Control Studies, Chromosomes, Human, Estrogen Replacement Therapy, Estrogens, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Postmenopause, Progestins, Risk Factors, Sequence Analysis, DNA, Postmenopausal breast cancer risk, Menopausal hormone therapy, Polymorphisms, Gene-environment interaction, Genome-wide association study, Case-only study, GENICA Network, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

Menopausal hormone therapy (MHT) is associated with an elevated risk of breast cancer in postmenopausal women. To identify genetic loci that modify breast cancer risk related to MHT use in postmenopausal women, we conducted a two-stage genome-wide association study (GWAS) with replication. In stage I, we performed a case-only GWAS in 731 invasive breast cancer cases from the German case-control study Mammary Carcinoma Risk Factor Investigation (MARIE). The 1,200 single nucleotide polymorphisms (SNPs) showing the lowest P values for interaction with current MHT use (within 6 months prior to breast cancer diagnosis), were carried forward to stage II, involving pooled case-control analyses including additional MARIE subjects (1,375 cases, 1,974 controls) as well as 795 cases and 764 controls of a Swedish case-control study. A joint P value was calculated for a combined analysis of stages I and II. Replication of the most significant interaction of the combined stage I and II was performed using 5,795 cases and 5,390 controls from nine studies of the Breast Cancer Association Consortium (BCAC). The combined stage I and II yielded five SNPs on chromosomes 2, 7, and 18 with joint P values

Published
2013

8. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Author

Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T.R., Farh, Kai-How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau, Richard A., Jr., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberly D., Chan, Raymond C.K., Chen, Ronald Y.L., Chen, Eric Y.H., Cheng, Wei, Cheung, Eric F.C., Chong, Siow Ann, Cloninger, C. Robert, Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E., Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Gershon, Elliot S., Giegling, Ina, Giusti-Rodrguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, Grove, Jakob, de Haan, Lieuwe, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Julia, Antonio, Kahn, Rene S., Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kelly, Brian J., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Kahler, Anna K., Laurent, Claudine, Keong, Jimmy Lee Chee, Lee, S. Hong, Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Li, Tao, Liang, Kung-Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lnnqvist, Jouko, Macek, Milan, Jr., Magnusson, Patrik K.E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Mortensen, Preben B., Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Mller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, O’Callaghan, Eadbhard, O’Dushlaine, Colm, O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Van Os, Jim, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., Pietilinen, Olli, Pimm, Jonathan, Pocklington, Andrew J., Powell, John, Price, Alkes, Pulver, Ann E., Purcell, Shaun M., Quested, Digby, Rasmussen, Henrik B., Reichenberg, Abraham, Reimers, Mark A., Richards, Alexander L., Roffman, Joshua L., Roussos, Panos, Ruderfer, Douglas M., Salomaa, Veikko, Sanders, Alan R., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon-Cheong, Spencer, Chris C.A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Stroup, T. Scott, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Sderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tooney, Paul A., Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H.M., Wormley, Brandon K., Wu, Jing Qin, Xi, Hualin Simon, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Wray, Naomi R., Stefansson, Kari, Visscher, Peter M., Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H.R., Bramon, Elvira, Buxbaum, Joseph D., Børglum, Anders D., Cichon, Sven, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, Esko, Tonu, Gejman, Pablo V., Gill, Michael, Gurling, Hugh, Hultman, Christina M., Iwata, Nakao, Jablensky, Assen V., Jonsson, Erik G., Kendler, Kenneth S., Kirov, George, Knight, Jo, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mowry, Bryan J., Nthen, Markus M., Ophoff, Roel A., Owen, Michael J., Palotie, Aarno, Pato, Carlos N., Petryshen, Tracey L., Posthuma, Danielle, Rietschel, Marcella, Riley, Brien P., Rujescu, Dan, Sham, Pak C., Sklar, Pamela, St. Clair, David, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., Sullivan, Patrick F., O’Donovan, Michael C., Kraft, Peter, Hunter, David J., Adank, Muriel, Ahsan, Habibul, Aittomäki, Kristiina, Baglietto, Laura, Berndt, Sonja, Blomquist, Carl, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J., Crisponi, Laura, Czene, Kamila, Dahmen, Norbert, Silva, Isabel dos Santos, Easton, Douglas, Eliassen, A. Heather, Figueroa, Jonine, Fletcher, Olivia, Garcia-Closas, Montserrat, Gaudet, Mia M., Gibson, Lorna, Haiman, Christopher A., Hall, Per, Hazra, Aditi, Hein, Rebecca, Henderson, Brian E., Hofman, Albert, Hopper, John L., Irwanto, Astrid, Johansson, Mattias, Kaaks, Rudolf, Kibriya, Muhammad G., Lichtner, Peter, Lindström, Sara, Lund, Eiliv, Makalic, Enes, Meindl, Alfons, Meijers-Heijboer, Hanne, Müller-Myhsok, Bertram, Muranen, Taru A., Nevanlinna, Heli, Peeters, Petra H., Peto, Julian, Prentice, Ross L., Rahman, Nazneen, Sánchez, María José, Schmidt, Daniel F., Schmutzler, Rita K., Southey, Melissa C., Tamimi, Rulla, Travis, Ruth, Turnbull, Clare, Uitterlinden, Andre G., van der Luijt, Rob B., Waisfisz, Quinten, Wang, Zhaoming, Whittemore, Alice S., Yang, Rose, Zheng, Wei, Vilhjálmsson, Bjarni J., Yang, Jian, Finucane, Hilary K., Gusev, Alexander, Loh, Po-Ru, Bhatia, Gaurav, Do, Ron, Hayeck, Tristan, Won, Hong-Hee, Kathiresan, Sekar, Pato, Michele, Pato, Carlos, Stahl, Eli, Zaitlen, Noah, Pasaniuc, Bogdan, Belbin, Gillian, Kenny, Eimear E., Schierup, Mikkel H., De Jager, Philip, Patsopoulos, Nikolaos A., McCarroll, Steve, Daly, Mark, Purcell, Shaun, Chasman, Daniel, Neale, Benjamin, Goddard, Michael, Patterson, Nick, and Price, Alkes L.

Published
2015
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9. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

Author

Feng, Yen-Chen Anne, Cho, Kelly, Lindstrom, Sara, Kraft, Peter, Cormack, Jean, Liang, Liming, Driver, Jane A., Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Gruber, Stephen B., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Peters, Ulrike, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Hunter, David J., Lindström, Sara, Kraft, Peter, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Kraft, Peter, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Bickeböller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Landi, Maria Teresa, Heinrich, Joachim, Risch, Angela, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Amos, Christopher I., IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), and Transdisciplinary Research in Cancer of the Lung (TRICL)

Published
2017
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10. Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

Author

Quednow, Boris B., Brinkmeyer, Jürgen, Mobascher, Arian, Nothnagel, Michael, Musso, Francesco, Gründer, Gerhard, Savary, Noah, Petrovsky, Nadine, Frommann, Ingo, Lennertz, Leonhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Dahmen, Norbert, Thuerauf, Norbert, Clepce, Marion, Kiefer, Falk, Majic, Tomislav, Mössner, Rainald, Maier, Wolfgang, Gallinat, Jürgen, Diaz-Lacava, Amalia, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Wagner, Michael, and Winterer, Georg

Published
2012

11. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

Author

Schumann, Gunter, Coin, Lachlan J., Lourdusamy, Anbarasu, Charoen, Pimphen, Berger, Karen H., Stacey, David, Desrivières, Sylvane, Aliev, Fazil A., Khan, Anokhi A., Amin, Najaf, Aulchenko, Yurii S., Bakalkin, Georgy, Bakker, Stephan J., Balkau, Beverley, Beulens, Joline W., Bilbao, Ainhoa, de Boer, Rudolf A., Beury, Delphine, Bots, Michiel L., Breetvelt, Elemi J., Cauchi, Stéphane, Cavalcanti-Proença, Christine, Chambers, John C., Clarke, Toni-Kim, Dahmen, Norbert, de Geus, Eco J., Dick, Danielle, Ducci, Francesca, Easton, Alanna, Edenberg, Howard J., Esk, Tõnu, Fernández-Medarde, Alberto, Foroud, Tatiana, Freimer, Nelson B., Girault, Jean-Antoine, Grobbee, Diederick E., Guarrera, Simonetta, Gudbjartsson, Daniel F., Hartikainen, Anna-Liisa, Heath, Andrew C., Hesselbrock, Victor, Hofman, Albert, Hottenga, Jouke-Jan, Isohanni, Matti K., Kaprio, Jaakko, Khaw, Kay-Tee, Kuehnel, Brigitte, Laitinen, Jaana, Lobbens, Stéphane, Luan, Jian'an, Mangino, Massimo, Maroteaux, Matthieu, Matullo, Giuseppe, McCarthy, Mark I., Mueller, Christian, Navis, Gerjan, Numans, Mattijs E., Núñez, Alejandro, Nyholt, Dale R., Onland-Moret, Charlotte N., Oostra, Ben A., O'Reilly, Paul F., Palkovits, Miklos, Penninx, Brenda W., Polidoro, Silvia, Pouta, Anneli, Prokopenko, Inga, Ricceri, Fulvio, Santos, Eugenio, Smit, Johannes H., Soranzo, Nicole, Song, Kijoung, Sovio, Ulla, Stumvoll, Michael, Surakk, Ida, Thorgeirsson, Thorgeir E., Thorsteinsdottir, Unnur, Troakes, Claire, Tyrfingsson, Thorarinn, Tönjes, Anke, Uiterwaal, Cuno S., Uitterlinden, Andre G., van der Harst, Pim, van der Schouw, Yvonne T., Staehlin, Oliver, Vogelzangs, Nicole, Vollenweider, Peter, Waeber, Gerard, Wareham, Nicholas J., Waterworth, Dawn M., Whitfield, John B., Wichmann, Erich H., Willemsen, Gonneke, Witteman, Jacqueline C., Yuan, Xin, Zhai, Guangju, Zhao, Jing H., Zhang, Weihua, Martin, Nicholas G., Metspalu, Andres, Doering, Angela, Scott, James, Spector, Tim D., Loos, Ruth J., Boomsma, Dorret I., Mooser, Vincent, Peltonen, Leena, Stefansson, Kari, van Duijn, Cornelia M., Vineis, Paolo, Sommer, Wolfgang H., Kooner, Jaspal S., Spanagel, Rainer, Heberlein, Ulrike A., Jarvelin, Marjo-Riitta, Elliott, Paul, and Singer, Burton H.

Published
2011

12. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Vanʼt Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marmé, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van Den Ouweland, Ans M.W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D.P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela

Published
2015
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13. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Author

Munn-Chernoff, Melissa A, Johnson, Emma C, Chou, Yi-Ling, Coleman, Jonathan R I, Thornton, Laura M, Walters, Raymond K, Yilmaz, Zeynep, Baker, Jessica H, Hübel, Christopher, Gordon, Scott, Medland, Sarah E, Watson, Hunna J, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Adan, Roger A H, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver S P, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J H, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Levitan, Robert D, Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K, Ophoff, Roel A, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W, Schmidt, Ulrike, Schork, Nicholas J, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P Eline, Slof-Op't Landt, Margarita C T, Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A, van Furth, Eric F, Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W, Boden, Joseph M, Brandt, Harry, Crawford, Steven, Halmi, Katherine A, Horwood, L John, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Mitchell, James, Olsen, Catherine M, Pearson, John F, Pedersen, Nancy L, Strober, Michael, Werge, Thomas, Whiteman, David C, Woodside, D Blake, Grove, Jakob, Henders, Anjali K, Larsen, Janne T, Parker, Richard, Petersen, Liselotte V, Jordan, Jennifer, Kennedy, Martin A, Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Foo, Jerome C, Fox, Louis, Frank, Josef, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke-Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Zhou, Hang, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie H, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E, Boomsma, Dorret I, Bierut, Laura J, Brown, Sandra A, Bucholz, Kathleen K, Costello, E Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Goate, Alison M, Goldman, David, Grucza, Richard A, Hancock, Dana B, Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Karpyak, Victor M, Kendler, Kenneth S, Kranzler, Henry R, Krauter, Kenneth, Lind, Penelope A, McGue, Matt, MacKillop, James, Madden, Pamela A F, Maes, Hermine H, Magnusson, Patrik K E, Nelson, Elliot C, Nöthen, Markus M, Palmer, Abraham A, Penninx, Brenda W J H, Porjesz, Bernice, Rice, John P, Rietschel, Marcella, Riley, Brien P, Rose, Richard J, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C, Tarter, Ralph E, Vanyukov, Michael M, Vrieze, Scott, Wall, Tamara L, Whitfield, John B, Zhao, Hongyu, Neale, Benjamin M, Wade, Tracey D, Heath, Andrew C, Montgomery, Grant W, Martin, Nicholas G, Sullivan, Patrick F, Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J, Bulik, Cynthia M, Agrawal, Arpana, Munn-Chernoff, Melissa A, Johnson, Emma C, Chou, Yi-Ling, Coleman, Jonathan R I, Thornton, Laura M, Walters, Raymond K, Yilmaz, Zeynep, Baker, Jessica H, Hübel, Christopher, Gordon, Scott, Medland, Sarah E, Watson, Hunna J, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Adan, Roger A H, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver S P, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J H, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Levitan, Robert D, Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K, Ophoff, Roel A, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W, Schmidt, Ulrike, Schork, Nicholas J, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P Eline, Slof-Op't Landt, Margarita C T, Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A, van Furth, Eric F, Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W, Boden, Joseph M, Brandt, Harry, Crawford, Steven, Halmi, Katherine A, Horwood, L John, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Mitchell, James, Olsen, Catherine M, Pearson, John F, Pedersen, Nancy L, Strober, Michael, Werge, Thomas, Whiteman, David C, Woodside, D Blake, Grove, Jakob, Henders, Anjali K, Larsen, Janne T, Parker, Richard, Petersen, Liselotte V, Jordan, Jennifer, Kennedy, Martin A, Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Foo, Jerome C, Fox, Louis, Frank, Josef, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke-Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Zhou, Hang, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie H, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E, Boomsma, Dorret I, Bierut, Laura J, Brown, Sandra A, Bucholz, Kathleen K, Costello, E Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Goate, Alison M, Goldman, David, Grucza, Richard A, Hancock, Dana B, Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Karpyak, Victor M, Kendler, Kenneth S, Kranzler, Henry R, Krauter, Kenneth, Lind, Penelope A, McGue, Matt, MacKillop, James, Madden, Pamela A F, Maes, Hermine H, Magnusson, Patrik K E, Nelson, Elliot C, Nöthen, Markus M, Palmer, Abraham A, Penninx, Brenda W J H, Porjesz, Bernice, Rice, John P, Rietschel, Marcella, Riley, Brien P, Rose, Richard J, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C, Tarter, Ralph E, Vanyukov, Michael M, Vrieze, Scott, Wall, Tamara L, Whitfield, John B, Zhao, Hongyu, Neale, Benjamin M, Wade, Tracey D, Heath, Andrew C, Montgomery, Grant W, Martin, Nicholas G, Sullivan, Patrick F, Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J, Bulik, Cynthia M, and Agrawal, Arpana

Abstract

Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg ], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-sp

Published
2021
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18. Shared genetic risk between eating disorder- and substance-use-related phenotypes:Evidence from genome-wide association studies

Author

Munn-Chernoff, Melissa A., Johnson, Emma C., Chou, Yi Ling, Coleman, Jonathan R.I., Thornton, Laura M., Walters, Raymond K., Yilmaz, Zeynep, Baker, Jessica H., Hübel, Christopher, Gordon, Scott, Medland, Sarah E., Watson, Hunna J., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E., Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M., Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Forzan, Monica, Franklin, Christopher S., Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M., Hudson, James I., Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J., Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Schork, Nicholas J., Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op't Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Grove, Jakob, Henders, Anjali K., Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li Shiun, Clarke, Toni Kim, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Foo, Jerome C., Fox, Louis, Frank, Josef, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Meyers, Jacquelyn L., Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E., Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Zhou, Hang, Boardman, Jason D., Chen, Danfeng, Choi, Doo Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Frye, Mark A., Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D., Nurnberger, John I., Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D., Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A., Soyka, Michael, Treutlein, Jens, Witt, Stephanie H., Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boomsma, Dorret I., Bierut, Laura J., Brown, Sandra A., Bucholz, Kathleen K., Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison M., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian J., Iacono, William G., Johnson, Eric O., Karpyak, Victor M., Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A.F., Maes, Hermine H., Magnusson, Patrik K.E., Nelson, Elliot C., Nöthen, Markus M., Palmer, Abraham A., Penninx, Brenda W.J.H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard J., Shen, Pei Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Wade, Tracey D., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Sullivan, Patrick F., Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J., Bulik, Cynthia M., Agrawal, Arpana, Munn-Chernoff, Melissa A., Johnson, Emma C., Chou, Yi Ling, Coleman, Jonathan R.I., Thornton, Laura M., Walters, Raymond K., Yilmaz, Zeynep, Baker, Jessica H., Hübel, Christopher, Gordon, Scott, Medland, Sarah E., Watson, Hunna J., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E., Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M., Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Forzan, Monica, Franklin, Christopher S., Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M., Hudson, James I., Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J., Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Schork, Nicholas J., Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op't Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Grove, Jakob, Henders, Anjali K., Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li Shiun, Clarke, Toni Kim, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Foo, Jerome C., Fox, Louis, Frank, Josef, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Meyers, Jacquelyn L., Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E., Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Zhou, Hang, Boardman, Jason D., Chen, Danfeng, Choi, Doo Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Frye, Mark A., Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D., Nurnberger, John I., Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D., Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A., Soyka, Michael, Treutlein, Jens, Witt, Stephanie H., Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boomsma, Dorret I., Bierut, Laura J., Brown, Sandra A., Bucholz, Kathleen K., Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison M., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian J., Iacono, William G., Johnson, Eric O., Karpyak, Victor M., Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A.F., Maes, Hermine H., Magnusson, Patrik K.E., Nelson, Elliot C., Nöthen, Markus M., Palmer, Abraham A., Penninx, Brenda W.J.H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard J., Shen, Pei Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Wade, Tracey D., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Sullivan, Patrick F., Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J., Bulik, Cynthia M., and Agrawal, Arpana

Abstract

Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = −0.19 to −0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotyp

Published
2020

20. Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

Author

Walters, Raymond K., Adams, Mark J., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna, Bigdeli, Tim B., Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna R., Fontanillas, Pierre, Foo, Jerome, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke-Jan, Kennedy, Martin A., Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Ligthart, Lannie, Loukola, Anu-Maria, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Milaneschi, Yuri, Palviainen, Teemu, Pearson, John F., Peterson, Roseann E., Polimanti, Renato, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Boardman, Jason D., Chen, Danfeng, Choi, Doo-Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Elson, Sarah L., Frye, Mark, Gäbel, Wolfgang, Ising, Marcus, Johnson, Emma C., Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, McClintick, Jeanette Nance, Meyers, Jacquelyn L., Müller-Myhsok, Bertram, Nurnberger, John I., Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D., Ridinger, Monika, Scherbaum, Norbert, Shuckit, Marc, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boden, Joseph M., Boomsma, Dorret, Bierut, Laura J, Brown, Sandra A., Bucholz, Kathleen K., Cichon, Sven, Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Dick, Danielle M., Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison A., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Heath, Andrew C., Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian, Horwood, John, Iacono, William, Johnson, Eric O., Kaprio, Jaakko A., Karpyak, Victor, Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lichtenstein, Paul, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A.F., Maes, Hermine, Magnusson, Patrik, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Nelson, Elliot C., Nöthen, Markus, Palmer, Abraham A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard, Rujescu, Dan, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Gelernter, Joel, Edenberg, Howard J., and Agrawal, Arpana

Subjects
0303 health sciences, medicine.medical_specialty, biology, Genetic genealogy, Alcohol dependence, ADH1B, Genome-wide association study, biology.organism_classification, medicine.disease, Genetic correlation, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Schizophrenia, medicine, Cannabis, Psychiatry, 030217 neurology & neurosurgery, Depression (differential diagnoses), 030304 developmental biology
Abstract

Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest GWAS to date of DSM - IV diagnosed AD. Genome - wide data on 14,904 individuals with AD and 37,944 controls from 28 case / control and family - based studies were meta - analyzed, stratified by genetic ancestry (European, N = 46,568; African; N = 6,280). Independent, genome - wide significant effects of different ADH1B variants were identified in European (rs1229984; p = 9.8E - 13) and African ancestries (rs2066702; p = 2.2E - 9). Significant genetic correlations were observed with schizophrenia, ADHD, depression, and use of cigarettes and cannabis. There was only modest genetic correlation with alcohol consumption and inconsistent associations with problem drinking. The genetic underpinnings of AD only partially overlap with those for alcohol consumption, underscoring the genetic distinction between pathological and non - pathological drinking behaviors.

Published
2018
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22. Peripheral blood and neuropsychological markers for the onset of action of antidepressant drugs in patients with Major Depressive Disorder

Author

Hiemke Christoph, Dahmen Norbert, Gorbulev Stanislav, Wagner Stefanie, Tadić André, Braus Dieter F, and Lieb Klaus

Subjects
Psychiatry, RC435-571
Abstract

Abstract Background In Major Depressive Disorder (MDD), treatment outcomes with currently available strategies are often disappointing. Therefore, it is sensible to develop new strategies to increase remission rates in acutely depressed patients. Many studies reported that true drug response can be observed within 14 days (early improvement) of antidepressant treatment. The identical time course of symptom amelioration after early improvement in patients treated with antidepressants of all classes or with placebo strongly suggests a common biological mechanism, which is not specific for a particular antidepressant medication. However, the biology underlying early improvement and final treatment response is not understood and there is no established biological marker as yet, which can predict treatment response for the individual patient before initiation or during the course of antidepressant treatment. Peripheral blood markers and executive functions are particularly promising candidates as markers for the onset of action and thus the prediction of final treatment outcome in MDD. Methods/Design The present paper presents the rationales, objectives and methods of a multi-centre study applying close-meshed repetitive measurements of peripheral blood and neuropsychological parameters in patients with MDD and healthy controls during a study period of eight weeks for the identification of biomarkers for the onset of antidepressants' action in patients with MDD. Peripheral blood parameters and depression severity are assessed in weekly intervals from baseline to week 8, executive performance in bi-weekly intervals. Patients are participating in a randomized controlled multi-level clinical trial, healthy controls are matched according to mean age, sex and general intelligence. Discussion This investigation will help to identify a biomarker or a set of biomarkers with decision-making quality in the treatment of MDD in order to increase the currently disappointing remission rates of antidepressant treatment. Trial Registration ClinicalTrials.gov: NCT00974155

Published
2011
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23. Rationale and design of the randomised clinical trial comparing early medication change (EMC) strategy with treatment as usual (TAU) in patients with Major Depressive Disorder - the EMC trial

Author

Wachtlin Daniel, van Calker Dietrich, Röschke Joachim, Braus Dieter F, Hiemke Christoph, Dahmen Norbert, Gorbulev Stanislav, Tadić André, Kronfeld Kai, Gorbauch Thorsten, Seibert-Grafe Monika, and Lieb Klaus

Subjects
Medicine (General), R5-920
Abstract

Abstract Background In Major Depressive Disorder (MDD), the traditional belief of a delayed onset of antidepressants' effects has lead to the concept of current guidelines that treatment durations should be between 3-8 weeks before medication change in case of insufficient outcome. Post hoc analyses of clinical trials, however, have shown that improvement usually occurs within the first 10-14 days of treatment and that such early improvement (Hamilton Depression Rating Scale [HAMD] decrease ≥20%) has a substantial predictive value for final treatment outcome. Even more important, non-improvement (HAMD decrease Methods/Design The EMC trial is a phase IV, multi-centre, multi-step, randomized, observer-blinded, actively controlled parallel-group clinical trial to investigate for the first time prospectively, whether non-improvers after 14 days of antidepressant treatment with an early medication change (EMC) are more likely to attain remission (HAMD-17 ≤7) on treatment day 56 compared to patients treated according to current guideline recommendation (treatment as usual; TAU). In level 1 of the EMC trial, non-improvers after 14 days of antidepressant treatment will be randomised to an EMC strategy or TAU. The EMC strategy for this study schedules a first medication change on day 15; in case of non-improvement between days 15-28, a second medication change will be performed. TAU schedules the first medication change after 28 days in case of non-response (HAMD-17 decrease Discussion If the EMC strategies lead to significantly more remitters, changes of clinical practice, guidelines for the treatment of MDD as well as research settings can be expected. Trial Registration Clincaltrials.gov Identifier: NCT00974155; EudraCT: 2008-008280-96.

Published
2010
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24. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

Author

Consortium, Coffee and Caffeine Genetics, Cornelis, Marilyn C, Renstrom, Frida, Rasheed, Asif, Mason, Marc A, Zonderman, Alan B, Franke, Lude, Kristal, Bruce S, Consortium, International Parkinson’s Disease Genomics, Consortium, North American Brain Expression, Consortium, UK Brain Expression, Karjalainen, Juha, Reed, Danielle R, Ngwa, Julius S, Westra, Harm-Jan, Evans, Michele K, Saleheen, Danish, Harris, Tamara B, Dedoussis, George, Curhan, Gary, Stumvoll, Michael, Beilby, John, Pasquale, Louis R, Feenstra, Bjarke, Huikari, Ville, Bandinelli, Stefania, Ordovas, Jose M, Chan, Andrew T, Peters, Ulrike, Ohlsson, Claes, Gieger, Christian, Martin, Nicholas G, Waldenberger, Melanie, Siscovick, David S, Raitakari, Olli, Cavadino, Alana, Eriksson, Johan G, Mitchell, Paul, Hunter, David J, Kraft, Peter, Rimm, Eric B, Boomsma, Dorret I, Borecki, Ingrid B, Loos, Ruth Jf, Wareham, Nicholas J, Vollenweider, Peter, Nolte, Ilja M, Caporaso, Neil, Grabe, Hans Jörgen, Neuhouser, Marian L, Wolffenbuttel, Bruce Hr, Hu, Frank B, Hyppönen, Elina, Järvelin, Marjo-Riitta, Cupples, L Adrienne, Franks, Paul W, Ridker, Paul M, Teumer, Alexander, van Duijn, Cornelia M, Heiss, Gerardo, Metspalu, Andres, North, Kari E, Ingelsson, Erik, Nettleton, Jennifer A, van Dam, Rob M, Chasman, Daniel I, Nalls, Michael A, Plagnol, Vincent, Yu, Kai, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Marques-Vidal, Pedro, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, M., Rawal, Rajesh, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Manichaikul, Ani, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Byrne, Enda M, Wojczynski, Mary K, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Vink, Jacqueline M, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Hershey, Milton S, Wurster, Isabel, Mätzler, Walter, Zhao, Jing Hua, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, München, Helmholtz Zentrum, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Burlutsky, George, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, O' Sullivan, Sean S, Lahti, Jari, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Mikkilä, Vera, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Lemaitre, Rozenn N, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Eriksson, Joel, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Sabatier, Paul, Musani, Solomon K, Wood, Nicholas W, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Singleton, Andrew, Cookson, Mark, Hernandez, Dena, Tanaka, Toshiko, Nalls, Michael, Zonderman, Alan, Ferrucci, Luigi, Johnson, Robert, Longo, Dan, O'Brien, Richard, Traynor, Bryan, Troncoso, Juan, Esko, Tõnu, Geller, Frank, van der Brug, Marcel, Zielke, Ronald, Weale, Michael, Ramasamy, Adaikalavan, Box, P. O., Luan, Jian'an, Hui, Jennie, Mägi, Reedik, Dimitriou, Maria, Garcia, Melissa E, Ho, Weang-Kee, Wright, Margaret J, Rose, Lynda M, Magnusson, Patrik Ke, Pedersen, Nancy L, Couper, David, Oostra, Ben A, Ikram, Mohammad Arfan, Tiemeier, Henning W, Uitterlinden, Andre G, van Rooij, Frank Ja, Barroso, Inês, Johansson, Ingegerd, Ganna, Andrea, Xue, Luting, Kaakinen, Marika, Milani, Lili, Power, Chris, Snieder, Harold, Stolk, Ronald P, Baumeister, Sebastian E, Biffar, Reiner, Gu, Fangyi, Bastardot, François, Paynter, Nina, Kutalik, Zoltán, Jacobs, David R, Forouhi, Nita G, Mihailov, Evelin, Lind, Lars, Lindgren, Cecilia, Michaëlsson, Karl, Morris, Andrew, Jensen, Majken, Khaw, Kay-Tee, Monda, Keri L, Luben, Robert N, Wang, Jie Jin, Männistö, Satu, Perälä, Mia-Maria, Kähönen, Mika, Lehtimäki, Terho, Viikari, Jorma, Mozaffarian, Dariush, Mukamal, Kenneth, Psaty, Bruce M, Amin, Najaf, Döring, Angela, Heath, Andrew C, Montgomery, Grant W, Dahmen, Norbert, Carithers, Teresa, Tucker, Katherine L, Boyd, Heather A, Melbye, Mads, Treur, Jorien L, Fischer, Krista, Mellström, Dan, Hottenga, Jouke Jan, Prokopenko, Inga, Tönjes, Anke, Kanoni, Stavroula, Lorentzon, Mattias, Houston, Denise K, Liu, Yongmei, Danesh, John, Biological Psychology, Nutrition and Health, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, The, Coffee, Cornelis, MC, Byrne, Enda, Esko, Tonu, Nalls, MA, Hyppönen, Elina, Chasman, DI, The Coffee and Caffeine Genetics Consortium, International Parkinson's Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), North American Brain Expression Consortium (NABEC), Epidemiology, Surgery, Public Health, Cell biology, Hematology, Clinical Genetics, Internal Medicine, Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), ANS - Amsterdam Neuroscience, Neurology, Graduate School, Pediatric surgery, VU University medical center, NCA - neurodegeneration, Human genetics, NCA - Brain mechanisms in health and disease, and NCA - Neurobiology of mental health

Subjects
INVOLVEMENT, Netherlands Twin Register (NTR), GCKR protein, human, PROTEIN, Genome-wide association study, VARIANTS, genetics [Brain-Derived Neurotrophic Factor], chemistry.chemical_compound, 0302 clinical medicine, Polymorphism (computer science), genetics [Adaptor Proteins, Signal Transducing], BINDING, BRAIN, Genetics, 0303 health sciences, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Psychiatry and Mental health, Phenotype, genetics [Polymorphism, Single Nucleotide], genetics [Cytochrome P-450 CYP1A2], Caffeine, CAFFEINE, Single-nucleotide polymorphism, Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, SDG 3 - Good Health and Well-being, Cytochrome P-450 CYP1A2, SNP, Humans, ddc:610, Allele, genetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors], Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, MLXIPL protein, human, RECEPTOR, Brain-Derived Neurotrophic Factor, Coffea, ta1182, Feeding Behavior, biology.organism_classification, ta3124, BDNF, chemistry, Behavioral medicine, Developmental Psychopathology, 030217 neurology & neurosurgery, GLUCOKINASE, metabolism [Coffea], Genome-Wide Association Study
Abstract

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) 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

Published
2015
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25. ApoE polymorphisms in narcolepsy

Author

Kasten Meike, Wieczorek Stefan, Dahmen Norbert, Gencik Martin, Gencikova Alexandra, and Epplen Jorg T

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Summary Background Narcolepsy is a common neuropsychiatric disorder characterized by increased daytime sleepiness, cataplexy and hypnagogic hallucinations. Deficiency of the hypocretin neurotransmitter system was shown to be involved in the pathogenesis of narcolepsy in animals and men. There are several hints that neurodegeneration of hypocretin producing neurons in the hypothalamus is the pathological correlate of narcolepsy. The ApoE4 allele is a major contributing factor to early-onset neuronal degeneration in Alzheimer disease and other neurodegenerative diseases as well. Methods To clarify whether the ApoE4 phenotype predisposes to narcolepsy or associates with an earlier disease onset, we have genotyped the ApoE gene in 103 patients with narcolepsy and 101 healthy controls. Results The frequency of the E4 allele of the ApoE gene was 11% in the patient and 15% in the control groups. Furthermore, the mean age of onset did not differ between the ApoE4+ and ApoE4- patient groups. Conclusion Our results exclude the ApoE4 allele as a major risk factor for narcolepsy.

Published
2001
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26. Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-Response Behaviors in Model Organisms

Author

Adkins, Amy E, Hack, Laura M, Raabe, Richard C, Alaimo, Joseph T, Blackwell, GinaMari G, Moscati, Arden, Poland, Ryan S, Rood, Benjamin, Patterson, Diana G, Walsh, Dermot, Consortium, Collaborative Study of the Genetics of Alcoholism, Whitfield, John B, Bigdeli, Tim B, Zhu, Gu, Montgomery, Grant W, Henders, Anjali K, Martin, Nicholas G, Heath, Andrew C, Madden, Pamela A F, Frank, Josef, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Williamson, Vernell S, Zill, Peter, Ising, Marcus, Nöthen, Markus M, Kiefer, Falk, Rietschel, Marcella, Consortium, German Study of the Genetics of Addiction, Gelernter, Joel, Sherva, Richard, Koesterer, Ryan, Almasy, Laura, McMichael, G Omari, Zhao, Hongyu, Kranzler, Henry R, Farrer, Lindsay A, Maher, Brion S, Prescott, Carol A, Dick, Danielle M, Bacanu, Silviu A, Mathies, Laura D, Davies, Andrew G, Vladimirov, Vladimir I, Mamdani, Mohammed, Grotewiel, Mike, Bowers, M Scott, Bettinger, Jill C, Webb, Bradley T, Miles, Michael F, Kendler, Kenneth S, Riley, Brien P, Hesselbrock, Victor, Bauer, Lance, Chan, Grace, Edwards, Alexis C, Edenberg, Howard J, Xuei, Xiaoling, Nurnberger, John, O'Connor, Sean, Foroud, Tatiana, Koller, Daniel L, Wetherill, Leah, Kuperman, Samuel, Kramer, John, Porjesz, Bernice, Aliev, Fazil, Kang, Sun J, Manz, Niklas, Rangaswamy, Madhavi, Bierut, Laura, Rice, John, Bucholz, Kathleen, Rohrbaugh, John W, Wang, Jen C, Goate, Alison, Schuckit, Marc, Chan, Robin F, Tischfield, Jay, Brooks, Andrew, Taylor, Robert E, Cichon, Sven, Treutlein, Jens, Mattheisen, Manuel, Hoffmann, Per, Herms, Stefan, Maier, Wolfgang, Mössner, Rainald, Bhandari, Poonam, Degenhardt, Franziska, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Schmäl, Christine, Steffens, Michael, Lucae, Susanne, Müller-Myhsok, Bertram, Mann, Karl, and Scherbaum, Norbert (Beitragende*r)

Subjects
0301 basic medicine, Male, epidemiology [Alcoholism], ved/biology.organism_classification_rank.species, Medizin, Medicine (miscellaneous), Genome-wide association study, Toxicology, methods [Genome-Wide Association Study], Mice, 0302 clinical medicine, Gene expression, epidemiology [Ireland], drug effects [Genetic Loci], genetics [Genetic Predisposition to Disease], Genetics, Gene knockdown, education.field_of_study, diagnosis [Alcoholism], Middle Aged, Psychiatry and Mental health, Alcoholism, Mice, Inbred DBA, epidemiology [Genetic Predisposition to Disease], Models, Animal, Drosophila, Female, Adult, animal structures, Population, genetics [Genetic Loci], Biology, Article, 03 medical and health sciences, Animals, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Model organism, education, Caenorhabditis elegans, Gene, Loss function, Ethanol, ved/biology, Rats, Mice, Inbred C57BL, 030104 developmental biology, genetics [Alcoholism], Genetic Loci, Case-Control Studies, Ireland, 030217 neurology & neurosurgery, Genome-Wide Association Study, administration & dosage [Ethanol]
Abstract

Background: Alcohol dependence (AD) shows evidence for genetic liability, but genes influencing risk remain largely unidentified. Methods: We conducted a genomewide association study in 706 related AD cases and 1,748 unscreened population controls from Ireland. We sought replication in 15,496 samples of European descent. We used model organisms (MOs) to assess the role of orthologous genes in ethanol (EtOH)-response behaviors. We tested 1 primate-specific gene for expression differences in case/control postmortem brain tissue. Results: We detected significant association in COL6A3 and suggestive association in 2 previously implicated loci, KLF12 and RYR3. None of these signals are significant in replication. A suggestive signal in the long noncoding RNA LOC339975 is significant in case:control meta-analysis, but not in a population sample. Knockdown of a COL6A3 ortholog in Caenorhabditis elegans reduced EtOH sensitivity. Col6a3 expression correlated with handling-induced convulsions in mice. Loss of function of the KLF12 ortholog in C.elegans impaired development of acute functional tolerance (AFT). Klf12 expression correlated with locomotor activation following EtOH injection in mice. Loss of function of the RYR3 ortholog reduced EtOH sensitivity in C.elegans and rapid tolerance in Drosophila. The ryanodine receptor antagonist dantrolene reduced motivation to self-administer EtOH in rats. Expression of LOC339975 does not differ between cases and controls but is reduced in carriers of the associated rs11726136 allele in nucleus accumbens (NAc). Conclusions: We detect association between AD and COL6A3, KLF12, RYR3, and LOC339975. Despite nonreplication of COL6A3, KLF12, and RYR3 signals, orthologs of these genes influence behavioral response to EtOH in MOs, suggesting potential involvement in human EtOH response and AD liability. The associated LOC339975 allele may influence gene expression in human NAc. Although the functions of long noncoding RNAs are poorly understood, there is mounting evidence implicating these genes in multiple brain functions and disorders.

Published
2017
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27. Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer:Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

Author

Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Human genetics, CCA - Evaluation of Cancer Care, Eeles, Rosalind A [0000-0002-7472-5384], and Apollo - University of Cambridge Repository

Subjects
Oncology, Male, Lung Neoplasms, Social Sciences, Genome-wide association study, Biochemistry, 0302 clinical medicine, Sociology, Odds Ratio, Prospective Studies, Aged, 80 and over, Prostate Diseases, 11 Medical And Health Sciences, General Medicine, Genomics, 3. Good health, 030220 oncology & carcinogenesis, Meta-analysis, Physical Sciences, Transdisciplinary Research in Cancer of the Lung (TRICL), Medicine, DIFFERENT ANATOMIC SITES, BODY-MASS-INDEX, Statistics (Mathematics), medicine.medical_specialty, 03 medical and health sciences, Exocrine Glands, SDG 3 - Good Health and Well-being, Genome-Wide Association Studies, Genetics, Humans, Statistical Methods, Molecular Biology, RECTAL-CANCER, Aged, Science & Technology, Biology and Life Sciences, Computational Biology, Genetic Variation, Odds ratio, Mendelian Randomization Analysis, medicine.disease, Genitourinary Tract Tumors, 030104 developmental biology, Relative risk, OLDER WOMEN, Prostate Gland, Mathematics, Meta-Analysis, Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), 0301 basic medicine, Bioinformatics, Lung and Intrathoracic Tumors, Mathematical and Statistical Techniques, NETHERLANDS COHORT, Consortia, Risk Factors, GROWTH-FACTOR (IGF)-I, Medicine and Health Sciences, Prospective cohort study, Prostate Cancer, Middle Aged, Research Design, Female, Anatomy, Colorectal Neoplasms, Life Sciences & Biomedicine, NORWEGIAN MEN, Research Article, Biotechnology, Adult, Urology, IGF-BINDING PROTEINS, Research and Analysis Methods, Young Adult, Medicine, General & Internal, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), General & Internal Medicine, Internal medicine, Mendelian randomization, medicine, Journal Article, Colorectal Transdisciplinary Study (CORECT), Lung cancer, Colorectal Cancer, business.industry, Cancers and Neoplasms, Prostatic Neoplasms, JAPANESE MEN, Human Genetics, Cell Biology, Genome Analysis, Body Height, Prostate cancer, Lung and intrathoracic tumors, Prospective studies, Colorectal cancer, Prostate gland, Genome-wide association studies, FOLLOW-UP, business, Genome-Wide Association Study
Abstract

Background Observational studies examining associations between adult height and risk of colorectal, prostate, and lung cancers have generated mixed results. We conducted meta-analyses using data from prospective cohort studies and further carried out Mendelian randomization analyses, using height-associated genetic variants identified in a genome-wide association study (GWAS), to evaluate the association of adult height with these cancers. Methods and Findings A systematic review of prospective studies was conducted using the PubMed, Embase, and Web of Science databases. Using meta-analyses, results obtained from 62 studies were summarized for the association of a 10-cm increase in height with cancer risk. Mendelian randomization analyses were conducted using summary statistics obtained for 423 genetic variants identified from a recent GWAS of adult height and from a cancer genetics consortium study of multiple cancers that included 47,800 cases and 81,353 controls. For a 10-cm increase in height, the summary relative risks derived from the meta-analyses of prospective studies were 1.12 (95% CI 1.10, 1.15), 1.07 (95% CI 1.05, 1.10), and 1.06 (95% CI 1.02, 1.11) for colorectal, prostate, and lung cancers, respectively. Mendelian randomization analyses showed increased risks of colorectal (odds ratio [OR] = 1.58, 95% CI 1.14, 2.18) and lung cancer (OR = 1.10, 95% CI 1.00, 1.22) associated with each 10-cm increase in genetically predicted height. No association was observed for prostate cancer (OR = 1.03, 95% CI 0.92, 1.15). Our meta-analysis was limited to published studies. The sample size for the Mendelian randomization analysis of colorectal cancer was relatively small, thus affecting the precision of the point estimate. Conclusions Our study provides evidence for a potential causal association of adult height with the risk of colorectal and lung cancers and suggests that certain genetic factors and biological pathways affecting adult height may also affect the risk of these cancers., In a Mendelian randomisation study Pierce and colleagues show a genetic association between adult height and increased risk of colorectal and lung cancer., Author Summary Why Was This Study Done? Several previous observational studies have examined the association between adult height and risk of cancers of the lung, colon/rectum, and prostate; however, it remains unclear whether adult height is indeed related to the risk of these cancers. What Did the Researchers Do and Find? We conducted a systematic review and meta-analysis of prospective cohort studies that examined the association between adult height and the risk of colorectal, lung, and prostate cancers. To overcome inherent limitations of observational study designs, we conducted Mendelian randomization analyses using genetic data generated from a large multi-center consortium study including 47,800 cases and 81,353 controls. In the meta-analysis of the prospective observational studies, we found a 12% increased risk of colorectal cancer, a 7% increased risk of prostate cancer, and a 6% increased risk of lung cancer for every ten-centimeter increase in height, and this increased risk was corroborated in the Mendelian randomization analyses for colorectal (58%) and lung cancer (10%). What Do These Findings Mean? Our study provides strong evidence for an association between adult height and risk of colorectal and lung cancer, and suggests that certain genetic and biological factors that affect height may also affect the risk of these cancers. However, our meta-analysis was limited to published studies, and the sample size for the Mendelian randomization analysis for colorectal cancer was relatively small, affecting the precision of the risk estimate.

Published
2016
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28. Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis

Author

Treutlein, Jens, primary, Frank, Josef, additional, Streit, Fabian, additional, Reinbold, Céline, additional, Juraeva, Dilafruz, additional, Degenhardt, Franziska, additional, Rietschel, Liz, additional, Witt, Stephanie, additional, Forstner, Andreas, additional, Ridinger, Monika, additional, Strohmaier, Jana, additional, Wodarz, Norbert, additional, Dukal, Helene, additional, Foo, Jerome, additional, Hoffmann, Per, additional, Herms, Stefan, additional, Heilmann-Heimbach, Stefanie, additional, Soyka, Michael, additional, Maier, Wolfgang, additional, Gaebel, Wolfgang, additional, Dahmen, Norbert, additional, Scherbaum, Norbert, additional, Müller-Myhsok, Bertram, additional, Lucae, Susanne, additional, Ising, Marcus, additional, Stickel, Felix, additional, Berg, Thomas, additional, Roggenbuck, Ulla, additional, Jöckel, Karl-Heinz, additional, Scholz, Henrike, additional, Zimmermann, Ulrich, additional, Buch, Stephan, additional, Sommer, Wolfgang, additional, Spanagel, Rainer, additional, Brors, Benedikt, additional, Cichon, Sven, additional, Mann, Karl, additional, Kiefer, Falk, additional, Hampe, Jochen, additional, Rosendahl, Jonas, additional, Nöthen, Markus, additional, and Rietschel, Marcella, additional

Published
2017
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29. Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis

Author

Treutlein, Jens, Frank, Josef, Streit, Fabian, Reinbold, Celine S., Juraeva, Dilafruz, Degenhardt, Franziska, Rietschel, Liz, Witt, Stephanie H., Forstner, Andreas J., Ridinger, Monika, Strohmaier, Jana, Wodarz, Norbert, Dukal, Helene, Foo, Jerome C., Hoffmann, Per, Herms, Stefan, Heilmann-Heimbach, Stefanie, Soyka, Michael, Maier, Wolfgang, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Mueller-Myhsok, Bertram, Lucae, Susanne, Ising, Marcus, Stickel, Felix, Berg, Thomas, Roggenbuck, Ulla, Joeckel, Karl-Heinz, Scholz, Henrike, Zimmermann, Ulrich S., Buch, Stephan, Sommer, Wolfgang H., Spanagel, Rainer, Brors, Benedikt, Cichon, Sven, Mann, Karl, Kiefer, Falk, Hampe, Jochen, Rosendahl, Jonas, Noethen, Markus M., Rietschel, Marcella, Treutlein, Jens, Frank, Josef, Streit, Fabian, Reinbold, Celine S., Juraeva, Dilafruz, Degenhardt, Franziska, Rietschel, Liz, Witt, Stephanie H., Forstner, Andreas J., Ridinger, Monika, Strohmaier, Jana, Wodarz, Norbert, Dukal, Helene, Foo, Jerome C., Hoffmann, Per, Herms, Stefan, Heilmann-Heimbach, Stefanie, Soyka, Michael, Maier, Wolfgang, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Mueller-Myhsok, Bertram, Lucae, Susanne, Ising, Marcus, Stickel, Felix, Berg, Thomas, Roggenbuck, Ulla, Joeckel, Karl-Heinz, Scholz, Henrike, Zimmermann, Ulrich S., Buch, Stephan, Sommer, Wolfgang H., Spanagel, Rainer, Brors, Benedikt, Cichon, Sven, Mann, Karl, Kiefer, Falk, Hampe, Jochen, Rosendahl, Jonas, Noethen, Markus M., and Rietschel, Marcella

Abstract

The present study investigated the genetic contribution to alcohol dependence (AD) using genome-wide association data from three German samples. These comprised patients with: (i) AD; (ii) chronic alcoholic pancreatitis (ACP); and (iii) alcohol-related liver cirrhosis (ALC). Single marker, gene-based, and pathway analyses were conducted. A significant association was detected for the ADH1B locus in a gene-based approach (p(uncorrected) = 1.2 x 10(-6); p(corrected) = 0.020). This was driven by the AD subsample. No association with ADH1B was found in the combined ACP + ALC sample. On first inspection, this seems surprising, since ADH1B is a robustly replicated risk gene for AD and may therefore be expected to be associated also with subgroups of AD patients. The negative finding in the ACP + ALC sample, however, may reflect genetic stratification as well as random fluctuation of allele frequencies in the cases and controls, demonstrating the importance of large samples in which the phenotype is well assessed.

Published
2017

30. Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer : Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

Author

Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, and Christiani, David C.

Published
2016

31. Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample

Author

Bey, Katharina, Lennertz, Leonhard, Markett, Sebastian, Petrovsky, Nadine, Gallinat, Juergen, Gruender, Gerhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes, Kiefer, Falk, Toliat, Mohammad R., Nuernberg, Peter, Winterer, Georg, Wagner, Michael, Bey, Katharina, Lennertz, Leonhard, Markett, Sebastian, Petrovsky, Nadine, Gallinat, Juergen, Gruender, Gerhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes, Kiefer, Falk, Toliat, Mohammad R., Nuernberg, Peter, Winterer, Georg, and Wagner, Michael

Abstract

Harm avoidance is a personality trait characterized by excessive worrying and fear of uncertainty, which has repeatedly been related to anxiety disorders. Converging lines of research in rodents and humans point towards an involvement of the nicotinic cholinergic system in the modulation of anxiety. Most notably, the rs1044396 polymorphism in the CHRNA4 gene, which codes for the alpha 4 subunit of the nicotinic acetylcholine receptor, has been linked to negative emotionality traits including harm avoidance in a recent study. Against this background, we investigated the association between harm avoidance and the rs1044396 polymorphism using data from N=1673 healthy subjects, which were collected in the context of the German multi-centre study 'Genetics of Nicotine Dependence and Neurobiological Phenotypes'. Homozygous carriers of the C-allele showed significantly higher levels of harm avoidance than homozygous T-allele carriers, with heterozygous subjects exhibiting intermediate scores. The effect was neither modulated by age or gender nor by smoking status. By replicating previous findings in a large population-based sample for the first time, the present study adds to the growing evidence suggesting an involvement of nicotinic cholinergic mechanism in anxiety and negative emotionality, which may pose an effective target for medical treatment. (C) 2015 Elsevier B.V. and ECNP. All rights reserved.

Published
2016

32. Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

Author

Genetica Sectie Genoomdiagnostiek, Cancer, Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Genetica Sectie Genoomdiagnostiek, Cancer, Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, and Christiani, David C.

Published
2016

33. aCaMKII Autophosphorylation Controls the Establishment of Alcohol Drinking Behavior

Author

Easton, Alanna C, Lucchesi, Walter, Lourdusamy, Anbarasu, Lenz, Bernd, Solati, Jalal, Golub, Yulia, Lewczuk, Piotr, Fernandes, Cathy, Desrivieres, Sylvane, Dawirs, Ralph R, Moll, Gunther H, Kornhuber, Johannes, Frank, Josef, Hoffmann, Per, Soyka, Michael, Kiefer, Falk, Schumann, Gunter, Peter Giese, K, Müller, Christian P, Treutlein, Jens, Cichon, Sven, Ridinger, Monika, Mattheisen, Manuel, Herms, Stefan, Wodarz, Norbert, Zill, Peter, Maier, Wolfgang, Mössner, Rainald, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Schmäl, Christine, Steffens, Michael, Lucae, Susanne, Ising, Marcus, Müller-Myhsok, Bertram, Nöthen, Markus M, Mann, Karl, and Rietschel, Marcella

Subjects
Male, Dopamine, Medizin, Poison control, Alcohol, Pharmacology, Nucleus Accumbens, Mice, chemistry.chemical_compound, 0302 clinical medicine, Hypnotics and Sedatives, Medicine, Phosphorylation, 0303 health sciences, education.field_of_study, Autophosphorylation, Ventral tegmental area, Neuropsychopharmacology, Alcoholism, Psychiatry and Mental health, medicine.anatomical_structure, Original Article, Female, Corrigendum, medicine.drug, Serotonin, Alcohol Drinking, Population, Prefrontal Cortex, Nucleus accumbens, Motor Activity, Polymorphism, Single Nucleotide, 03 medical and health sciences, Animals, Humans, Genetic Predisposition to Disease, education, 030304 developmental biology, Ethanol, Dose-Response Relationship, Drug, business.industry, Alcohol dependence, Ventral Tegmental Area, Behavior, Addictive, chemistry, Case-Control Studies, Calcium-Calmodulin-Dependent Protein Kinase Type 2, business, Neuroscience, 030217 neurology & neurosurgery
Abstract

The α-Ca(2+)/calmodulin-dependent protein kinase II (αCaMKII) is a crucial enzyme controlling plasticity in the brain. The autophosphorylation of αCaMKII works as a 'molecular memory' for a transient calcium activation, thereby accelerating learning. We investigated the role of αCaMKII autophosphorylation in the establishment of alcohol drinking as an addiction-related behavior in mice. We found that alcohol drinking was initially diminished in αCaMKII autophosphorylation-deficient αCaMKII(T286A) mice, but could be established at wild-type level after repeated withdrawals. The locomotor activating effects of a low-dose alcohol (2 g/kg) were absent in αCaMKII(T286A) mice, whereas the sedating effects of high-dose (3.5 g/kg) were preserved after acute and subchronic administration. The in vivo microdialysis revealed that αCaMKII(T286A) mice showed no dopamine (DA) response in the nucleus accumbens to acute or subchronic alcohol administration, but enhanced serotonin (5-HT) responses in the prefrontal cortex. The attenuated DA response in αCaMKII(T286A) mice was in line with altered c-Fos activation in the ventral tegmental area after acute and subchronic alcohol administration. In order to compare findings in mice with the human condition, we tested 23 single-nucleotide polymorphisms (SNPs) in the CAMK2A gene for their association with alcohol dependence in a population of 1333 male patients with severe alcohol dependence and 939 controls. We found seven significant associations between CAMK2A SNPs and alcohol dependence, one of which in an autophosphorylation-related area of the gene. Together, our data suggest αCaMKII autophosphorylation as a facilitating mechanism in the establishment of alcohol drinking behavior with changing the DA-5-HT balance as a putative mechanism.

Published
2013
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34. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Wei-Yu Lin, Lin, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Frederik Marmé, Marmé, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Perez, Jose Ignacio Arias, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van DenOuweland, Ans M W, Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W R, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D P, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun Young, Noh, Dong Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Hsiung, Chia Ni, Wu, Pei Ei, Ding, Shian Ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E J, Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., Cox, Angela, Wei-Yu Lin, Lin, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Frederik Marmé, Marmé, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Perez, Jose Ignacio Arias, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van DenOuweland, Ans M W, Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W R, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D P, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun Young, Noh, Dong Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Hsiung, Chia Ni, Wu, Pei Ei, Ding, Shian Ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E J, Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela

Published
2015

35. XRCC5 as a Risk Gene for Alcohol Dependence: Evidence from a Genome-Wide Gene-Set-Based Analysis and Follow-up Studies in Drosophila and Humans

Author

Juraeva, Dilafruz, Treutlein, Jens, Scholz, Henrike, Frank, Josef, Degenhardt, Franziska, Cichon, Sven, Ridinger, Monika, Mattheisen, Manuel, Witt, Stephanie H., Lang, Maren, Sommer, Wolfgang H., Hoffmann, Per, Herms, Stefan, Wodarz, Norbert, Soyka, Michael, Zill, Peter, Maier, Wolfgang, Juenger, Elisabeth, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Schmael, Christine, Steffens, Michael, Lucae, Susanne, Ising, Marcus, Smolka, Michael N., Zimmermann, Ulrich S., Mueller-Myhsok, Bertram, Noethen, Markus M., Mann, Karl, Kiefer, Falk, Spanagel, Rainer, Brors, Benedikt, Rietschel, Marcella, Juraeva, Dilafruz, Treutlein, Jens, Scholz, Henrike, Frank, Josef, Degenhardt, Franziska, Cichon, Sven, Ridinger, Monika, Mattheisen, Manuel, Witt, Stephanie H., Lang, Maren, Sommer, Wolfgang H., Hoffmann, Per, Herms, Stefan, Wodarz, Norbert, Soyka, Michael, Zill, Peter, Maier, Wolfgang, Juenger, Elisabeth, Gaebel, Wolfgang, Dahmen, Norbert, Scherbaum, Norbert, Schmael, Christine, Steffens, Michael, Lucae, Susanne, Ising, Marcus, Smolka, Michael N., Zimmermann, Ulrich S., Mueller-Myhsok, Bertram, Noethen, Markus M., Mann, Karl, Kiefer, Falk, Spanagel, Rainer, Brors, Benedikt, and Rietschel, Marcella

Abstract

Genetic factors have as large role as environmental factors in the etiology of alcohol dependence (AD). Although genome-wide association studies (GWAS) enable systematic searches for loci not hitherto implicated in the etiology of AD, many true findings may be missed owing to correction for multiple testing. The aim of the present study was to circumvent this limitation by searching for biological system-level differences, and then following up these findings in humans and animals. Gene-set-based analysis of GWAS data from 1333 cases and 2168 controls identified 19 significantly associated gene-sets, of which 5 could be replicated in an independent sample. Clustered in these gene-sets were novel and previously identified susceptibility genes. The most frequently present gene, ie in 6 out of 19 gene-sets, was X-ray repair complementing defective repair in Chinese hamster cells 5 (XRCC5). Previous human and animal studies have implicated XRCC5 in alcohol sensitivity. This phenotype is inversely correlated with the development of AD, presumably as more alcohol is required to achieve the desired effects. In the present study, the functional role of XRCC5 in AD was further validated in animals and humans. Drosophila mutants with reduced function of Ku80-the homolog of mammalian XRCC5-due to RNAi silencing showed reduced sensitivity to ethanol. In humans with free access to intravenous ethanol self-administration in the laboratory, the maximum achieved blood alcohol concentration was influenced in an allele-dose-dependent manner by genetic variation in XRCC5. In conclusion, our convergent approach identified new candidates and generated independent evidence for the involvement of XRCC5 in alcohol dependence.

Published
2015

36. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Genetica Sectie Genoomdiagnostiek, Cancer, Wei-Yu Lin, Lin, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Frederik Marmé, Marmé, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Perez, Jose Ignacio Arias, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van DenOuweland, Ans M W, Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W R, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D P, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun Young, Noh, Dong Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Hsiung, Chia Ni, Wu, Pei Ei, Ding, Shian Ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E J, Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., Cox, Angela, Genetica Sectie Genoomdiagnostiek, Cancer, Wei-Yu Lin, Lin, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Frederik Marmé, Marmé, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Pilar Zamora, M., Perez, Jose Ignacio Arias, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van DenOuweland, Ans M W, Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W R, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D P, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun Young, Noh, Dong Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Hsiung, Chia Ni, Wu, Pei Ei, Ding, Shian Ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E J, Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela

Published
2015

37. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Author

Vilhjálmsson, Bjarni J., primary, Yang, Jian, additional, Finucane, Hilary K., additional, Gusev, Alexander, additional, Lindström, Sara, additional, Ripke, Stephan, additional, Genovese, Giulio, additional, Loh, Po-Ru, additional, Bhatia, Gaurav, additional, Do, Ron, additional, Hayeck, Tristan, additional, Won, Hong-Hee, additional, Kathiresan, Sekar, additional, Pato, Michele, additional, Pato, Carlos, additional, Tamimi, Rulla, additional, Stahl, Eli, additional, Zaitlen, Noah, additional, Pasaniuc, Bogdan, additional, Belbin, Gillian, additional, Kenny, Eimear E., additional, Schierup, Mikkel H., additional, De Jager, Philip, additional, Patsopoulos, Nikolaos A., additional, McCarroll, Steve, additional, Daly, Mark, additional, Purcell, Shaun, additional, Chasman, Daniel, additional, Neale, Benjamin, additional, Goddard, Michael, additional, Visscher, Peter M., additional, Kraft, Peter, additional, Patterson, Nick, additional, Price, Alkes L., additional, Neale, Benjamin M., additional, Corvin, Aiden, additional, Walters, James T.R., additional, Farh, Kai-How, additional, Holmans, Peter A., additional, Lee, Phil, additional, Bulik-Sullivan, Brendan, additional, Collier, David A., additional, Huang, Hailiang, additional, Pers, Tune H., additional, Agartz, Ingrid, additional, Agerbo, Esben, additional, Albus, Margot, additional, Alexander, Madeline, additional, Amin, Farooq, additional, Bacanu, Silviu A., additional, Begemann, Martin, additional, Belliveau, Richard A., additional, Bene, Judit, additional, Bergen, Sarah E., additional, Bevilacqua, Elizabeth, additional, Bigdeli, Tim B., additional, Black, Donald W., additional, Bruggeman, Richard, additional, Buccola, Nancy G., additional, Buckner, Randy L., additional, Byerley, William, additional, Cahn, Wiepke, additional, Cai, Guiqing, additional, Campion, Dominique, additional, Cantor, Rita M., additional, Carr, Vaughan J., additional, Carrera, Noa, additional, Catts, Stanley V., additional, Chambert, Kimberly D., additional, Chan, Raymond C.K., additional, Chen, Ronald Y.L., additional, Chen, Eric Y.H., additional, Cheng, Wei, additional, Cheung, Eric F.C., additional, Chong, Siow Ann, additional, Cloninger, C. Robert, additional, Cohen, David, additional, Cohen, Nadine, additional, Cormican, Paul, additional, Craddock, Nick, additional, Crowley, James J., additional, Curtis, David, additional, Davidson, Michael, additional, Davis, Kenneth L., additional, Degenhardt, Franziska, additional, Del Favero, Jurgen, additional, DeLisi, Lynn E., additional, Demontis, Ditte, additional, Dikeos, Dimitris, additional, Dinan, Timothy, additional, Djurovic, Srdjan, additional, Donohoe, Gary, additional, Drapeau, Elodie, additional, Duan, Jubao, additional, Dudbridge, Frank, additional, Durmishi, Naser, additional, Eichhammer, Peter, additional, Eriksson, Johan, additional, Escott-Price, Valentina, additional, Essioux, Laurent, additional, Fanous, Ayman H., additional, Farrell, Martilias S., additional, Frank, Josef, additional, Franke, Lude, additional, Freedman, Robert, additional, Freimer, Nelson B., additional, Friedl, Marion, additional, Friedman, Joseph I., additional, Fromer, Menachem, additional, Georgieva, Lyudmila, additional, Gershon, Elliot S., additional, Giegling, Ina, additional, Giusti-Rodrguez, Paola, additional, Godard, Stephanie, additional, Goldstein, Jacqueline I., additional, Golimbet, Vera, additional, Gopal, Srihari, additional, Gratten, Jacob, additional, Grove, Jakob, additional, de Haan, Lieuwe, additional, Hammer, Christian, additional, Hamshere, Marian L., additional, Hansen, Mark, additional, Hansen, Thomas, additional, Haroutunian, Vahram, additional, Hartmann, Annette M., additional, Henskens, Frans A., additional, Herms, Stefan, additional, Hirschhorn, Joel N., additional, Hoffmann, Per, additional, Hofman, Andrea, additional, Hollegaard, Mads V., additional, Hougaard, David M., additional, Ikeda, Masashi, additional, Joa, Inge, additional, Julia, Antonio, additional, Kahn, Rene S., additional, Kalaydjieva, Luba, additional, Karachanak-Yankova, Sena, additional, Karjalainen, Juha, additional, Kavanagh, David, additional, Keller, Matthew C., additional, Kelly, Brian J., additional, Kennedy, James L., additional, Khrunin, Andrey, additional, Kim, Yunjung, additional, Klovins, Janis, additional, Knowles, James A., additional, Konte, Bettina, additional, Kucinskas, Vaidutis, additional, Kucinskiene, Zita Ausrele, additional, Kuzelova-Ptackova, Hana, additional, Kahler, Anna K., additional, Laurent, Claudine, additional, Keong, Jimmy Lee Chee, additional, Lee, S. Hong, additional, Legge, Sophie E., additional, Lerer, Bernard, additional, Li, Miaoxin, additional, Li, Tao, additional, Liang, Kung-Yee, additional, Lieberman, Jeffrey, additional, Limborska, Svetlana, additional, Loughland, Carmel M., additional, Lubinski, Jan, additional, Lnnqvist, Jouko, additional, Macek, Milan, additional, Magnusson, Patrik K.E., additional, Maher, Brion S., additional, Maier, Wolfgang, additional, Mallet, Jacques, additional, Marsal, Sara, additional, Mattheisen, Manuel, additional, Mattingsdal, Morten, additional, McCarley, Robert W., additional, McDonald, Colm, additional, McIntosh, Andrew M., additional, Meier, Sandra, additional, Meijer, Carin J., additional, Melegh, Bela, additional, Melle, Ingrid, additional, Mesholam-Gately, Raquelle I., additional, Metspalu, Andres, additional, Michie, Patricia T., additional, Milani, Lili, additional, Milanova, Vihra, additional, Mokrab, Younes, additional, Morris, Derek W., additional, Mors, Ole, additional, Mortensen, Preben B., additional, Murphy, Kieran C., additional, Murray, Robin M., additional, Myin-Germeys, Inez, additional, Mller-Myhsok, Bertram, additional, Nelis, Mari, additional, Nenadic, Igor, additional, Nertney, Deborah A., additional, Nestadt, Gerald, additional, Nicodemus, Kristin K., additional, Nikitina-Zake, Liene, additional, Nisenbaum, Laura, additional, Nordin, Annelie, additional, O’Callaghan, Eadbhard, additional, O’Dushlaine, Colm, additional, O’Neill, F. Anthony, additional, Oh, Sang-Yun, additional, Olincy, Ann, additional, Olsen, Line, additional, Van Os, Jim, additional, Pantelis, Christos, additional, Papadimitriou, George N., additional, Papiol, Sergi, additional, Parkhomenko, Elena, additional, Pato, Michele T., additional, Paunio, Tiina, additional, Pejovic-Milovancevic, Milica, additional, Perkins, Diana O., additional, Pietilinen, Olli, additional, Pimm, Jonathan, additional, Pocklington, Andrew J., additional, Powell, John, additional, Price, Alkes, additional, Pulver, Ann E., additional, Purcell, Shaun M., additional, Quested, Digby, additional, Rasmussen, Henrik B., additional, Reichenberg, Abraham, additional, Reimers, Mark A., additional, Richards, Alexander L., additional, Roffman, Joshua L., additional, Roussos, Panos, additional, Ruderfer, Douglas M., additional, Salomaa, Veikko, additional, Sanders, Alan R., additional, Schall, Ulrich, additional, Schubert, Christian R., additional, Schulze, Thomas G., additional, Schwab, Sibylle G., additional, Scolnick, Edward M., additional, Scott, Rodney J., additional, Seidman, Larry J., additional, Shi, Jianxin, additional, Sigurdsson, Engilbert, additional, Silagadze, Teimuraz, additional, Silverman, Jeremy M., additional, Sim, Kang, additional, Slominsky, Petr, additional, Smoller, Jordan W., additional, So, Hon-Cheong, additional, Spencer, Chris C.A., additional, Stahl, Eli A., additional, Stefansson, Hreinn, additional, Steinberg, Stacy, additional, Stogmann, Elisabeth, additional, Straub, Richard E., additional, Strengman, Eric, additional, Strohmaier, Jana, additional, Stroup, T. Scott, additional, Subramaniam, Mythily, additional, Suvisaari, Jaana, additional, Svrakic, Dragan M., additional, Szatkiewicz, Jin P., additional, Sderman, Erik, additional, Thirumalai, Srinivas, additional, Toncheva, Draga, additional, Tooney, Paul A., additional, Tosato, Sarah, additional, Veijola, Juha, additional, Waddington, John, additional, Walsh, Dermot, additional, Wang, Dai, additional, Wang, Qiang, additional, Webb, Bradley T., additional, Weiser, Mark, additional, Wildenauer, Dieter B., additional, Williams, Nigel M., additional, Williams, Stephanie, additional, Witt, Stephanie H., additional, Wolen, Aaron R., additional, Wong, Emily H.M., additional, Wormley, Brandon K., additional, Wu, Jing Qin, additional, Xi, Hualin Simon, additional, Zai, Clement C., additional, Zheng, Xuebin, additional, Zimprich, Fritz, additional, Wray, Naomi R., additional, Stefansson, Kari, additional, Visscher, Peter M., additional, Adolfsson, Rolf, additional, Andreassen, Ole A., additional, Blackwood, Douglas H.R., additional, Bramon, Elvira, additional, Buxbaum, Joseph D., additional, Børglum, Anders D., additional, Cichon, Sven, additional, Darvasi, Ariel, additional, Domenici, Enrico, additional, Ehrenreich, Hannelore, additional, Esko, Tonu, additional, Gejman, Pablo V., additional, Gill, Michael, additional, Gurling, Hugh, additional, Hultman, Christina M., additional, Iwata, Nakao, additional, Jablensky, Assen V., additional, Jonsson, Erik G., additional, Kendler, Kenneth S., additional, Kirov, George, additional, Knight, Jo, additional, Lencz, Todd, additional, Levinson, Douglas F., additional, Li, Qingqin S., additional, Liu, Jianjun, additional, Malhotra, Anil K., additional, McCarroll, Steven A., additional, McQuillin, Andrew, additional, Moran, Jennifer L., additional, Mowry, Bryan J., additional, Nthen, Markus M., additional, Ophoff, Roel A., additional, Owen, Michael J., additional, Palotie, Aarno, additional, Pato, Carlos N., additional, Petryshen, Tracey L., additional, Posthuma, Danielle, additional, Rietschel, Marcella, additional, Riley, Brien P., additional, Rujescu, Dan, additional, Sham, Pak C., additional, Sklar, Pamela, additional, St. Clair, David, additional, Weinberger, Daniel R., additional, Wendland, Jens R., additional, Werge, Thomas, additional, Daly, Mark J., additional, Sullivan, Patrick F., additional, O’Donovan, Michael C., additional, Hunter, David J., additional, Adank, Muriel, additional, Ahsan, Habibul, additional, Aittomäki, Kristiina, additional, Baglietto, Laura, additional, Berndt, Sonja, additional, Blomquist, Carl, additional, Canzian, Federico, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Crisponi, Laura, additional, Czene, Kamila, additional, Dahmen, Norbert, additional, Silva, Isabel dos Santos, additional, Easton, Douglas, additional, Eliassen, A. Heather, additional, Figueroa, Jonine, additional, Fletcher, Olivia, additional, Garcia-Closas, Montserrat, additional, Gaudet, Mia M., additional, Gibson, Lorna, additional, Haiman, Christopher A., additional, Hall, Per, additional, Hazra, Aditi, additional, Hein, Rebecca, additional, Henderson, Brian E., additional, Hofman, Albert, additional, Hopper, John L., additional, Irwanto, Astrid, additional, Johansson, Mattias, additional, Kaaks, Rudolf, additional, Kibriya, Muhammad G., additional, Lichtner, Peter, additional, Lund, Eiliv, additional, Makalic, Enes, additional, Meindl, Alfons, additional, Meijers-Heijboer, Hanne, additional, Müller-Myhsok, Bertram, additional, Muranen, Taru A., additional, Nevanlinna, Heli, additional, Peeters, Petra H., additional, Peto, Julian, additional, Prentice, Ross L., additional, Rahman, Nazneen, additional, Sánchez, María José, additional, Schmidt, Daniel F., additional, Schmutzler, Rita K., additional, Southey, Melissa C., additional, Travis, Ruth, additional, Turnbull, Clare, additional, Uitterlinden, Andre G., additional, van der Luijt, Rob B., additional, Waisfisz, Quinten, additional, Wang, Zhaoming, additional, Whittemore, Alice S., additional, Yang, Rose, additional, and Zheng, Wei, additional

Published
2015
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38. Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Author

Schwantes-An, Tae-Hwi, primary, Zhang, Juan, additional, Chen, Li-Shiun, additional, Hartz, Sarah M., additional, Culverhouse, Robert C., additional, Chen, Xiangning, additional, Coon, Hilary, additional, Frank, Josef, additional, Kamens, Helen M., additional, Konte, Bettina, additional, Kovanen, Leena, additional, Latvala, Antti, additional, Legrand, Lisa N., additional, Maher, Brion S., additional, Melroy, Whitney E., additional, Nelson, Elliot C., additional, Reid, Mark W., additional, Robinson, Jason D., additional, Shen, Pei-Hong, additional, Yang, Bao-Zhu, additional, Andrews, Judy A., additional, Aveyard, Paul, additional, Beltcheva, Olga, additional, Brown, Sandra A., additional, Cannon, Dale S., additional, Cichon, Sven, additional, Corley, Robin P., additional, Dahmen, Norbert, additional, Degenhardt, Louisa, additional, Foroud, Tatiana, additional, Gaebel, Wolfgang, additional, Giegling, Ina, additional, Glatt, Stephen J., additional, Grucza, Richard A., additional, Hardin, Jill, additional, Hartmann, Annette M., additional, Heath, Andrew C., additional, Herms, Stefan, additional, Hodgkinson, Colin A., additional, Hoffmann, Per, additional, Hops, Hyman, additional, Huizinga, David, additional, Ising, Marcus, additional, Johnson, Eric O., additional, Johnstone, Elaine, additional, Kaneva, Radka P., additional, Kendler, Kenneth S., additional, Kiefer, Falk, additional, Kranzler, Henry R., additional, Krauter, Ken S., additional, Levran, Orna, additional, Lucae, Susanne, additional, Lynskey, Michael T., additional, Maier, Wolfgang, additional, Mann, Karl, additional, Martin, Nicholas G., additional, Mattheisen, Manuel, additional, Montgomery, Grant W., additional, Müller-Myhsok, Bertram, additional, Murphy, Michael F., additional, Neale, Michael C., additional, Nikolov, Momchil A., additional, Nishita, Denise, additional, Nöthen, Markus M., additional, Nurnberger, John, additional, Partonen, Timo, additional, Pergadia, Michele L., additional, Reynolds, Maureen, additional, Ridinger, Monika, additional, Rose, Richard J., additional, Rouvinen-Lagerström, Noora, additional, Scherbaum, Norbert, additional, Schmäl, Christine, additional, Soyka, Michael, additional, Stallings, Michael C., additional, Steffens, Michael, additional, Treutlein, Jens, additional, Tsuang, Ming, additional, Wall, Tamara L., additional, Wodarz, Norbert, additional, Yuferov, Vadim, additional, Zill, Peter, additional, Bergen, Andrew W., additional, Chen, Jingchun, additional, Cinciripini, Paul M., additional, Edenberg, Howard J., additional, Ehringer, Marissa A., additional, Ferrell, Robert E., additional, Gelernter, Joel, additional, Goldman, David, additional, Hewitt, John K., additional, Hopfer, Christian J., additional, Iacono, William G., additional, Kaprio, Jaakko, additional, Kreek, Mary Jeanne, additional, Kremensky, Ivo M., additional, Madden, Pamela A.F., additional, McGue, Matt, additional, Munafò, Marcus R., additional, Philibert, Robert A., additional, Rietschel, Marcella, additional, Roy, Alec, additional, Rujescu, Dan, additional, Saarikoski, Sirkku T., additional, Swan, Gary E., additional, Todorov, Alexandre A., additional, Vanyukov, Michael M., additional, Weiss, Robert B., additional, Bierut, Laura J., additional, and Saccone, Nancy L., additional

Published
2015
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39. Genome-wide association study of alcohol dependence

Author

Treutlein, Jens, Cichon, Sven, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Maier, W., Moessner, Richhild, Dahmen, Norbert, Fehr, Cindy, Scherbaum, Norbert, Wichmann, Erich, Schreiber, S., Dragano, Nico, Hofsommer, Wolfgang, Wienker, Thomas F., Sullivan, Philip F., Nothen, M., Kiefer, Falk, Spanagel, Rainer, Mann, Karl F., and Rietschel, Marcella

Subjects
Medizin
Published
2010

40. A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author

Ahsan, Habibul, Halpern, Jerry, Kibriya, Muhammad G., Pierce, Brandon L., Tong, Lin, Gamazon, Eric, McGuire, Valerie, Felberg, Anna, Shi, Jianxin, Jasmine, Farzana, Roy, Shantanu, Brutus, Rachelle, Argos, Maria, Melkonian, Stephanie, Chang-Claude, Jenny, Andrulis, Irene, Hopper, John L., John, Esther M., Malone, Kathi, Ursin, Giske, Gammon, Marilie D., Thomas, Duncan C., Seminara, Daniela, Casey, Graham, Knight, Julia A., Southey, Melissa C., Giles, Graham G., Santella, Regina M., Lee, Eunjung, Conti, David, Duggan, David, Gallinger, Steve, Haile, Robert, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly, Michailidou, Kyriaki, Apicella, Carmel, Park, Daniel J., Peto, Julian, Fletcher, Olivia, Silva, Isabel dos Santos, Lathrop, Mark, Hunter, David J., Chanock, Stephen J., Meindl, Alfons, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Lochmann, Magdalena, Beckmann, Lars, Hein, Rebecca, Makalic, Enes, Schmidt, Daniel F., Stone, Jennifer, Flesch-Janys, Dieter, Dahmen, Norbert, Nevanlinna, Heli, Aittomaki, Kristiina, Blomqvist, Carl, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Rahman, Nazneen, Turnbull, Clare, Dunning, Alison M., Pharoah, Paul, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando, Nicolae, Dan, Easton, Douglas F., Cox, Nancy J., Whittemore, Alice S., Ahsan, Habibul, Halpern, Jerry, Kibriya, Muhammad G., Pierce, Brandon L., Tong, Lin, Gamazon, Eric, McGuire, Valerie, Felberg, Anna, Shi, Jianxin, Jasmine, Farzana, Roy, Shantanu, Brutus, Rachelle, Argos, Maria, Melkonian, Stephanie, Chang-Claude, Jenny, Andrulis, Irene, Hopper, John L., John, Esther M., Malone, Kathi, Ursin, Giske, Gammon, Marilie D., Thomas, Duncan C., Seminara, Daniela, Casey, Graham, Knight, Julia A., Southey, Melissa C., Giles, Graham G., Santella, Regina M., Lee, Eunjung, Conti, David, Duggan, David, Gallinger, Steve, Haile, Robert, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly, Michailidou, Kyriaki, Apicella, Carmel, Park, Daniel J., Peto, Julian, Fletcher, Olivia, Silva, Isabel dos Santos, Lathrop, Mark, Hunter, David J., Chanock, Stephen J., Meindl, Alfons, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Lochmann, Magdalena, Beckmann, Lars, Hein, Rebecca, Makalic, Enes, Schmidt, Daniel F., Stone, Jennifer, Flesch-Janys, Dieter, Dahmen, Norbert, Nevanlinna, Heli, Aittomaki, Kristiina, Blomqvist, Carl, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Rahman, Nazneen, Turnbull, Clare, Dunning, Alison M., Pharoah, Paul, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando, Nicolae, Dan, Easton, Douglas F., Cox, Nancy J., and Whittemore, Alice S.

Abstract

Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages <= 51 years. The SNPs with smallest P values were examined in a replication set of 3,470EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC(P < 4 x 10(-8)) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P < 6 x 10(-4)) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P < 0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 x 10(-6). In conclusion, EOBC and LOBC seem to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer. (C)2014 AACR.

Published
2014

41. Impaired sleep quality and sleep duration in smokers-results from the German Multicenter Study on Nicotine Dependence

Author

Cohrs, Stefan, Rodenbeck, Andrea, Riemann, Dieter, Szagun, Bertram, Jaehne, Andreas, Brinkmeyer, Juergen, Gruender, Gerhard, Wienker, Thomas, Diaz-Lacava, Amalia, Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes, Kiefer, Falk, Gallinat, Juergen, Wagner, Michael, Kunz, Dieter, Grittner, Ulrike, Winterer, Georg, Cohrs, Stefan, Rodenbeck, Andrea, Riemann, Dieter, Szagun, Bertram, Jaehne, Andreas, Brinkmeyer, Juergen, Gruender, Gerhard, Wienker, Thomas, Diaz-Lacava, Amalia, Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes, Kiefer, Falk, Gallinat, Juergen, Wagner, Michael, Kunz, Dieter, Grittner, Ulrike, and Winterer, Georg

Abstract

Cigarette smoking is a severe health burden being related to a number of chronic diseases. Frequently, smokers report about sleep problems. Sleep disturbance, in turn, has been demonstrated to be involved in the pathophysiology of several disorders related to smoking and may be relevant for the pathophysiology of nicotine dependence. Therefore, determining the frequency of sleep disturbance in otherwise healthy smokers and its association with degree of nicotine dependence is highly relevant. In a population-based case-control study, 1071 smokers and 1243 non-smokers without lifetime Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Axis I disorder were investigated. Sleep quality (SQ) of participants was determined by the Pittsburgh Sleep Quality Index. As possible confounders, age, sex and level of education and income, as well as depressiveness, anxiety, attention deficit hyperactivity, alcohol drinking behaviour and perceived stress, were included into multiple regression analyses. Significantly more smokers than non-smokers (28.1% versus 19.1%; P < 0.0001) demonstrated a disturbed global SQ. After controlling for the confounders, impaired scores in the component scores of sleep latency, sleep duration and global SQ were found significantly more often in smokers than non-smokers. Consistently, higher degrees of nicotine dependence and intensity of smoking were associated with shorter sleep duration. This study demonstrates for the first time an elevated prevalence of sleep disturbance in smokers compared with non-smokers in a population without lifetime history of psychiatric disorders even after controlling for potentially relevant risk factors. It appears likely that smoking is a behaviourally modifiable risk factor for the occurrence of impaired SQ and short sleep duration.

Published
2014

42. XRCC5 as a Risk Gene for Alcohol Dependence: Evidence from a Genome-Wide Gene-Set-Based Analysis and Follow-up Studies in Drosophila and Humans

Author

Juraeva, Dilafruz, primary, Treutlein, Jens, additional, Scholz, Henrike, additional, Frank, Josef, additional, Degenhardt, Franziska, additional, Cichon, Sven, additional, Ridinger, Monika, additional, Mattheisen, Manuel, additional, Witt, Stephanie H, additional, Lang, Maren, additional, Sommer, Wolfgang H, additional, Hoffmann, Per, additional, Herms, Stefan, additional, Wodarz, Norbert, additional, Soyka, Michael, additional, Zill, Peter, additional, Maier, Wolfgang, additional, Jünger, Elisabeth, additional, Gaebel, Wolfgang, additional, Dahmen, Norbert, additional, Scherbaum, Norbert, additional, Schmäl, Christine, additional, Steffens, Michael, additional, Lucae, Susanne, additional, Ising, Marcus, additional, Smolka, Michael N, additional, Zimmermann, Ulrich S, additional, Müller-Myhsok, Bertram, additional, Nöthen, Markus M, additional, Mann, Karl, additional, Kiefer, Falk, additional, Spanagel, Rainer, additional, Brors, Benedikt, additional, and Rietschel, Marcella, additional

Published
2014
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43. Functional polymorphism in the neuropeptide Y gene promoter (rs16147) is associated with serum leptin levels and waist-hip ratio in women

Author

Mutschler, Jochen, Abbruzzese, Elvira, Wiedemann, Klaus, von der Goltz, Christoph, Dinter, Christina, Mobascher, Arian, Thiele, Holger, Diaz-Lacava, Amalia, Dahmen, Norbert, Gallinat, Jürgen, Majic, Tomislav, Petrovsky, Nadine, Thuerauf, Norbert, Kornhuber, Johannes, Gründer, Gerhard, Rademacher, Lena, Brinkmeyer, Juergen, Wienker, Thomas, Wagner, Michael, Winterer, Georg, Kiefer, Falk, Mutschler, Jochen, Abbruzzese, Elvira, Wiedemann, Klaus, von der Goltz, Christoph, Dinter, Christina, Mobascher, Arian, Thiele, Holger, Diaz-Lacava, Amalia, Dahmen, Norbert, Gallinat, Jürgen, Majic, Tomislav, Petrovsky, Nadine, Thuerauf, Norbert, Kornhuber, Johannes, Gründer, Gerhard, Rademacher, Lena, Brinkmeyer, Juergen, Wienker, Thomas, Wagner, Michael, Winterer, Georg, and Kiefer, Falk

Abstract

OBJECTIVE: The neuropeptide-Y (NP-Y) gene is a strong candidate gene in the pathophysiology of obesity-linked behavior, and several single-nucleotide polymorphisms of NP-Y have already been linked to body weight and appetite. However, the results from current studies remain inconclusive. The aim of the present study was to test whether a certain functional genetic variant (SNP rs16147) in the NP-Y promoter gene is associated with serum leptin levels and body fat distribution. METHOD: We genotyped and measured the serum leptin levels of the NP-Y rs16147 polymorphism in 1,097 Caucasian subjects in the context of a population-based, case-control multicenter study. We measured weight, height and waist circumference, from which we then calculated BMI and waist-to-hip ratio (WHR). RESULTS: We found the CT-genotype of the SNP rs16147 to be significantly associated with lower WHRs and higher serum leptin levels in women, compared to homozygote gene carriers. No association between rs16147, WHR and serum leptin levels was found in men. CONCLUSION: Our results provide evidence that the functionally relevant SNP in the NP-Y promoter gene affects body fat distribution and serum leptin levels in women, pointing towards possible behavioral effects of NPY in obesity.

Published
2013

44. An investigation of a genomewide supported psychosis variant in ZNF804A and white matter integrity in the human brain

Author

Sprooten, Emma, McIntosh, Andrew M., Lawrie, Stephen M., Hall, Jeremy, Sussmann, Jess E., Dahmen, Norbert, Konrad, Andreas, Bastin, Mark E., Winterer, Georg, Sprooten, Emma, McIntosh, Andrew M., Lawrie, Stephen M., Hall, Jeremy, Sussmann, Jess E., Dahmen, Norbert, Konrad, Andreas, Bastin, Mark E., and Winterer, Georg

Abstract

ZNF804A, a genomewide supported susceptibility gene for schizophrenia and bipolar disorder, has been associated with task-independent functional connectivity between the left and right dorsolateral prefrontal cortices. Several lines of evidence have converged on the hypothesis that this effect may be mediated by structural connectivity. We tested this hypothesis using diffusion tensor magnetic resonance imaging in three samples: one German sample of 50 healthy individuals, one Scottish sample of 83 healthy individuals and one Scottish sample of 84 unaffected relatives of bipolar patients. Voxel-based analysis and tract-based spatial statistics did not detect any fractional anisotropy (FA) differences between minor allele carriers and individuals homozygous for the major allele at rs1344706. Similarly, region-of-interest analyses and quantitative tractography of the genu of the corpus callosum revealed no significant FA differences between the genotype groups. Examination of effect sizes and confidence intervals indicated that this negative finding is very unlikely to be due to a lack of statistical power. In summary, despite using various analysis techniques in three different samples, our results were strikingly and consistently negative. These data therefore suggest that it is unlikely that the effects of genetic variation at rs1344706 on functional connectivity are mediated by structural integrity differences in large, long-range white matter fiber connections. (C) 2012 Elsevier Inc. All rights reserved.

Published
2012

45. The German multi-centre study on smoking-related behavior-description of a population-based case-control study

Author

Lindenberg, Annette, Brinkmeyer, Juergen, Dahmen, Norbert, Gallinat, Juergen, de Millas, Walter, Mobascher, Arian, Wagner, Michael, Schulze-Rauschenbach, Svenja, Gruender, Gerhard, Spreckelmeyer, Katja N., Clepce, Marion, Thuerauf, Norbert, von der Goltz, Christoph, Kiefer, Falk, Steffens, Michael, Holler, Daniela, Diaz-Lacava, Amalia, Wienker, Thomas, Winterer, Georg, Lindenberg, Annette, Brinkmeyer, Juergen, Dahmen, Norbert, Gallinat, Juergen, de Millas, Walter, Mobascher, Arian, Wagner, Michael, Schulze-Rauschenbach, Svenja, Gruender, Gerhard, Spreckelmeyer, Katja N., Clepce, Marion, Thuerauf, Norbert, von der Goltz, Christoph, Kiefer, Falk, Steffens, Michael, Holler, Daniela, Diaz-Lacava, Amalia, Wienker, Thomas, and Winterer, Georg

Abstract

Tobacco smoking is a major risk factor for most of the diseases leading in mortality. Nicotine dependence (ND), which sustains regular smoking, is now acknowledged to be under substantial genetic control with some environmental contribution. At present, however, genetic studies on ND are mostly conducted in populations that have been poorly characterized with regard to ND-related phenotypes for the simple reason that the respective populations were not primarily collected to study ND. The Germanmulti-centre study 'Genetics of Nicotine Dependence and Neurobiological Phenotypes', which is funded by the German Research Foundation (Deutsche Forschungsgemeinschaft, DFG) as part of the Priority Program (Schwerpunktprogramm) SPP1226: 'Nicotine-Molecular and Physiological Effects in CNS', was intended to overcome some of these inherent problems of current genetic studies of ND. The multi-centre study is a population-based case-control study of smokers and never-smokers (n = 2396). The study was unique worldwide because it was the first large-scale genetic study specifically addressing ND with the collection of a wide range of environmental, psychosocial and neurobiological phenotypes. Study design and major population characteristics with emphasis on risk prediction of smoking status were presented in this paper.

Published
2011

46. Correction for Schumann et al., Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (Proceedings of the National Academy Sciences of the United States of America (2011) 108, 17, (7119-7124))

Author

Schumann, Gunter, Coin, Lachlan J., Lourdusamy, Anbarasu, Charoen, Pimphen, Berger, Karen H., Stacey, David, Desrivières, Sylvane, Aliev, Fazil A., Khan, Anokhi A., Amin, Najaf, Aulchenko, Yurii S., Bakalkin, Georgy, Bakker, Stephan J., Balkau, Beverley, Beulens, Joline W., Bilbao, Ainhoa, De Boer, Rudolf A., Beury, Delphine, Bots, Michiel L., Breetvelt, Elemi J., Cauchi, Stéphane, Cavalcanti-Proença, Christine, Chambers, John C., Clarke, Toni Kim, Dahmen, Norbert, De Geus, Eco J., Dick, Danielle, Ducci, Francesca, Easton, Alanna, Edenberg, Howard J., Esk, Tõnu, Fernández-Medarde, Alberto, Foroud, Tatiana, Freimer, Nelson B., Girault, Jean Antoine, Grobbee, Diederick E., Guarrera, Simonetta, Gudbjartsson, Daniel F., Hartikainen, Anna Liisa, Heath, Andrew C., Hesselbrock, Victor, Hofman, Albert, Hottenga, Jouke Jan, Isohanni, Matti K., Kaprio, Jaakko, Khaw, Kay Tee, Kuehnel, Brigitte, Laitinen, Jaana, Lobbens, Stéphane, Luan, Jian'an, Mangino, Massimo, Maroteaux, Matthieu, Matullo, Giuseppe, McCarthy, Mark I., Mueller, Christian, Navis, Gerjan, Numans, Mattijs E., Núñez, Alejandro, Nyholt, Dale R., Onland-Moret, Charlotte N., Oostra, Ben A., O'Reilly, Paul F., Palkovits, Miklos, Penninx, Brenda W., Polidoro, Silvia, Pouta, Anneli, Prokopenko, Inga, Ricceri, Fulvio, Santos, Eugenio, Smit, Johannes H., Soranzo, Nicole, Song, Kijoung, Sovio, Ulla, Stumvoll, Michael, Surakk, Ida, Thorgeirsson, Thorgeir E., Thorsteinsdottir, Unnur, Troakes, Claire, Tyrfingsson, Thorarinn, Tönjes, Anke, Uiterwaal, Cuno S., Uitterlinden, Andre G., Van Der Harst, Pim, Van Der Schouw, Yvonne T., Staehlin, Oliver, Vogelzangs, Nicole, Vollenweider, Peter, Waeber, Gerard, Wareham, Nicholas J., Waterworth, Dawn M., Whitfield, John B., Wichmann, Erich H., Willemsen, Gonneke, Witteman, Jacqueline C., Yuan, Xin, Zhai, Guangju, Zhao, Jing H., Zhang, Weihua, Martin, Nicholas G., Metspalu, Andres, Doering, Angela, Scott, James, Spector, Tim D., Loos, Ruth J., Boomsma, Dorret I., Mooser, Vincent, Peltonen, Leena, Stefansson, Kari, Van Duijn, Cornelia M., Vineis, Paolo, Sommer, Wolfgang H., Kooner, Jaspal S., Spanagel, Rainer, Heberlein, Ulrike A., Jarvelin, Marjo Riitta, Elliott, Paul, Schumann, Gunter, Coin, Lachlan J., Lourdusamy, Anbarasu, Charoen, Pimphen, Berger, Karen H., Stacey, David, Desrivières, Sylvane, Aliev, Fazil A., Khan, Anokhi A., Amin, Najaf, Aulchenko, Yurii S., Bakalkin, Georgy, Bakker, Stephan J., Balkau, Beverley, Beulens, Joline W., Bilbao, Ainhoa, De Boer, Rudolf A., Beury, Delphine, Bots, Michiel L., Breetvelt, Elemi J., Cauchi, Stéphane, Cavalcanti-Proença, Christine, Chambers, John C., Clarke, Toni Kim, Dahmen, Norbert, De Geus, Eco J., Dick, Danielle, Ducci, Francesca, Easton, Alanna, Edenberg, Howard J., Esk, Tõnu, Fernández-Medarde, Alberto, Foroud, Tatiana, Freimer, Nelson B., Girault, Jean Antoine, Grobbee, Diederick E., Guarrera, Simonetta, Gudbjartsson, Daniel F., Hartikainen, Anna Liisa, Heath, Andrew C., Hesselbrock, Victor, Hofman, Albert, Hottenga, Jouke Jan, Isohanni, Matti K., Kaprio, Jaakko, Khaw, Kay Tee, Kuehnel, Brigitte, Laitinen, Jaana, Lobbens, Stéphane, Luan, Jian'an, Mangino, Massimo, Maroteaux, Matthieu, Matullo, Giuseppe, McCarthy, Mark I., Mueller, Christian, Navis, Gerjan, Numans, Mattijs E., Núñez, Alejandro, Nyholt, Dale R., Onland-Moret, Charlotte N., Oostra, Ben A., O'Reilly, Paul F., Palkovits, Miklos, Penninx, Brenda W., Polidoro, Silvia, Pouta, Anneli, Prokopenko, Inga, Ricceri, Fulvio, Santos, Eugenio, Smit, Johannes H., Soranzo, Nicole, Song, Kijoung, Sovio, Ulla, Stumvoll, Michael, Surakk, Ida, Thorgeirsson, Thorgeir E., Thorsteinsdottir, Unnur, Troakes, Claire, Tyrfingsson, Thorarinn, Tönjes, Anke, Uiterwaal, Cuno S., Uitterlinden, Andre G., Van Der Harst, Pim, Van Der Schouw, Yvonne T., Staehlin, Oliver, Vogelzangs, Nicole, Vollenweider, Peter, Waeber, Gerard, Wareham, Nicholas J., Waterworth, Dawn M., Whitfield, John B., Wichmann, Erich H., Willemsen, Gonneke, Witteman, Jacqueline C., Yuan, Xin, Zhai, Guangju, Zhao, Jing H., Zhang, Weihua, Martin, Nicholas G., Metspalu, Andres, Doering, Angela, Scott, James, Spector, Tim D., Loos, Ruth J., Boomsma, Dorret I., Mooser, Vincent, Peltonen, Leena, Stefansson, Kari, Van Duijn, Cornelia M., Vineis, Paolo, Sommer, Wolfgang H., Kooner, Jaspal S., Spanagel, Rainer, Heberlein, Ulrike A., Jarvelin, Marjo Riitta, and Elliott, Paul

Abstract

The authors note that, due to a printer's error, the author name Tõnu Esk should have appeared as Tõnu Esko. The online version has been corrected.

Published
2011

47. Investigation of insulin resistance in narcoleptic patients: dependent or independent of body mass index?

Author

Engel,Alice, Helfrich,Jana, Manderscheid,Nina, Musholt,Petra B, Forst,Thomas, Pfützner,Andreas, Dahmen,Norbert, Engel,Alice, Helfrich,Jana, Manderscheid,Nina, Musholt,Petra B, Forst,Thomas, Pfützner,Andreas, and Dahmen,Norbert

Abstract

Alice Engel1,2, Jana Helfrich1, Nina Manderscheid1, Petra B Musholt3, Thomas Forst3, Andreas Pfützner3, Norbert Dahmen1,21Department of Psychiatry, University of Mainz, Germany; 2Fachklinik Katzenelnbogen, Katzenelnbogen, Germany; 3IKFE, Institute for Clinical Research and Development, Mainz, GermanyBackground: Narcolepsy is a severe sleep-wake cycle disorder resulting in most cases from a lack of orexin, the energy balance-regulating hormone. Narcoleptic patients have been reported to suffer from an excess morbidity of Type 2 diabetes, even after correction for their often elevated body mass index.Methods: To explore whether narcolepsy is specifically associated with a propensity to develop insulin resistance, we measured fasting glucose, insulin, and intact proinsulin levels in 43 narcoleptic patients and 47 controls matched for body mass index and age. The proinsulin-to-insulin ratio was calculated. Insulin resistance was determined using the homeostatic model assessment method.Results: Narcoleptic patients did not show elevated insulin resistance parameters.Conclusion: In contrast with earlier reports, we found no evidence that narcolepsy specifically elevates the risk of insulin resistance (and consequently of type 2 diabetes) independently of body mass index.Keywords: fasting glucose, insulin, intact proinsulin, narcolepsy, obesity

Published
2011

48. Risk Gene Variants for Nicotine Dependence in the CHRNA5-CHRNA3-CHRNB4 Cluster Are Associated With Cognitive Performance

Author

Winterer, Georg, Mittelstrass, Kirstin, Giegling, Ina, Lamina, Claudia, Fehr, Christoph, Brenner, Hermann, Breitling, Lutz P., Nitz, Barbara, Raum, Elke, Mueller, Heiko, Gallinat, Juergen, Gal, Andreas, Heim, Katharina, Prokisch, Holger, Meitinger, Thomas, Hartmann, Annette M., Moeller, Hans-Juergen, Gieger, Christian, Wichmann, H-Erich, Illig, Thomas, Dahmen, Norbert, Rujescu, Dan, Winterer, Georg, Mittelstrass, Kirstin, Giegling, Ina, Lamina, Claudia, Fehr, Christoph, Brenner, Hermann, Breitling, Lutz P., Nitz, Barbara, Raum, Elke, Mueller, Heiko, Gallinat, Juergen, Gal, Andreas, Heim, Katharina, Prokisch, Holger, Meitinger, Thomas, Hartmann, Annette M., Moeller, Hans-Juergen, Gieger, Christian, Wichmann, H-Erich, Illig, Thomas, Dahmen, Norbert, and Rujescu, Dan

Abstract

Recent studies strongly support an association of the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 with nicotine dependence (ND). However, the precise genotype-phenotype relationship is still unknown. Clinical and epidemiological data on smoking behavior raise the possibility that the relevant gene variants may indirectly contribute to the development of ND by affecting cognitive performance in some smokers who consume nicotine for reasons of co nition enhancement.'' Here, we tested seven single nucleotide polymorphisms (SNPs) rs684513, rs637137, rs16969968, rs578776, rs1051730, rs3743078, rs3813567 from the CHRNA5-CHRNA3-CHRNB4 gene cluster for association with ND, measures of cognitive performance and gene expression. As expected, we found all SNPs being associated with ND in three independent cohorts (KORA, NCOOP, ESTHER) comprising 5,561 individuals. In an overlapping sample of 2,186 subjects we found three SNPs (rs16969968, rs1051730, rs3743078) being associated with cognitive domains from the Wechsler-Adult-Intelligence Scale (WAIS-R)-most notably in the performance subtest object assembly'' and the verbal subtest similarities.'' In a refined analysis of a subsample of 485 subjects, two of these three SNPs (rs16969968, rs1051730) were associated with n-back task performance/Continuous Performance Test. Furthermore, two CHRNA5 risk alleles (rs684513, rs637137) were associated with CHRNA5 mRNA expression levels in whole blood in a subgroup of 190 subjects. We here report for the first time an association of CHRNA5-CHRNA3-CHRNB4 gene variants with cognition possibly mediating in part risk for developing ND. The observed phenotype-genotype associations may depend on altered levels of gene expression. (C) 2010 Wiley-Liss, Inc.

Published
2010

49. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

Author

Thorgeirsson, Thorgeir E, Gudbjartsson, Daniel F, Surakka, Ida, Vink, Jacqueline M, Amin, Najaf, Geller, Frank, Sulem, Patrick, Rafnar, Thorunn, Esko, Tõnu, Walter, Stefan, Gieger, Christian, Rawal, Rajesh, Mangino, Massimo, Prokopenko, Inga, Mägi, Reedik, Keskitalo, Kaisu, Gudjonsdottir, Iris H, Gretarsdottir, Solveig, Stefansson, Hreinn, Thompson, John R, Aulchenko, Yurii S, Nelis, Mari, Aben, Katja K, den Heijer, Martin, Dirksen, Asger, Ashraf, Haseem, Soranzo, Nicole, Valdes, Ana M, Steves, Claire, Uitterlinden, André G, Hofman, Albert, Tönjes, Anke, Kovacs, Peter Andreas Lehn, Hottenga, Jouke Jan, Willemsen, Gonneke, Vogelzangs, Nicole, Döring, Angela, Dahmen, Norbert, Nitz, Barbara, Pergadia, Michele L, Saez, Berta, De Diego, Veronica, Lezcano, Victoria, Garcia-Prats, Maria D, Ripatti, Samuli, Perola, Markus, Kettunen, Johannes, Hartikainen, Anna-Liisa, Pouta, Anneli, Pedersen, Jesper Holst, Thorgeirsson, Thorgeir E, Gudbjartsson, Daniel F, Surakka, Ida, Vink, Jacqueline M, Amin, Najaf, Geller, Frank, Sulem, Patrick, Rafnar, Thorunn, Esko, Tõnu, Walter, Stefan, Gieger, Christian, Rawal, Rajesh, Mangino, Massimo, Prokopenko, Inga, Mägi, Reedik, Keskitalo, Kaisu, Gudjonsdottir, Iris H, Gretarsdottir, Solveig, Stefansson, Hreinn, Thompson, John R, Aulchenko, Yurii S, Nelis, Mari, Aben, Katja K, den Heijer, Martin, Dirksen, Asger, Ashraf, Haseem, Soranzo, Nicole, Valdes, Ana M, Steves, Claire, Uitterlinden, André G, Hofman, Albert, Tönjes, Anke, Kovacs, Peter Andreas Lehn, Hottenga, Jouke Jan, Willemsen, Gonneke, Vogelzangs, Nicole, Döring, Angela, Dahmen, Norbert, Nitz, Barbara, Pergadia, Michele L, Saez, Berta, De Diego, Veronica, Lezcano, Victoria, Garcia-Prats, Maria D, Ripatti, Samuli, Perola, Markus, Kettunen, Johannes, Hartikainen, Anna-Liisa, Pouta, Anneli, and Pedersen, Jesper Holst

Abstract

Smoking is a common risk factor for many diseases. We conducted genome-wide association meta-analyses for the number of cigarettes smoked per day (CPD) in smokers (n = 31,266) and smoking initiation (n = 46,481) using samples from the ENGAGE Consortium. In a second stage, we tested selected SNPs with in silico replication in the Tobacco and Genetics (TAG) and Glaxo Smith Kline (Ox-GSK) consortia cohorts (n = 45,691 smokers) and assessed some of those in a third sample of European ancestry (n = 9,040). Variants in three genomic regions associated with CPD (P <5 x 10(-8)), including previously identified SNPs at 15q25 represented by rs1051730[A] (effect size = 0.80 CPD, P = 2.4 x 10(-69)), and SNPs at 19q13 and 8p11, represented by rs4105144[C] (effect size = 0.39 CPD, P = 2.2 x 10(-12)) and rs6474412-T (effect size = 0.29 CPD, P = 1.4 x 10(-8)), respectively. Among the genes at the two newly associated loci are genes encoding nicotine-metabolizing enzymes (CYP2A6 and CYP2B6) and nicotinic acetylcholine receptor subunits (CHRNB3 and CHRNA6), all of which have been highlighted in previous studies of smoking and nicotine dependence. Nominal associations with lung cancer were observed at both 8p11 (rs6474412[T], odds ratio (OR) = 1.09, P = 0.04) and 19q13 (rs4105144[C], OR = 1.12, P = 0.0006).

Published
2010

50. Association analysis between variants of the interleukin-1β and the interleukin-1 receptor antagonist gene and antidepressant treatment response in major depression

Author

Tadić,André, Rujescu,Dan, Müller,Matthias J, Kohnen,Ralf, Stassen,Hans H., Szegedi,Armin, Dahmen,Norbert, Tadić,André, Rujescu,Dan, Müller,Matthias J, Kohnen,Ralf, Stassen,Hans H., Szegedi,Armin, and Dahmen,Norbert

Abstract

André Tadic1, Dan Rujescu2, Matthias J Müller3, Ralf Kohnen4, Hans H. Stassen5, Armin Szegedi6, Norbert Dahmen11Department of Psychiatry, University of Mainz, Germany; 2Department of Psychiatry, University of Munich, Germany; 3Clinic for Psychiatry and Psychotherapy, Marburg-Sued, Germany, and Clinic for Psychiatry and Psychotherapy, Giessen, Germany; 4IMEREM, Nuernberg, Germany; 5Department of Psychiatry, University of Zurich, Switzerland; 6Organon, Roseland, NJ, USAAbstract: This study investigated the possible association of the interleukin-1 beta (IL-1β) C-511T promoter polymorphism and the interleukin-1 receptor antagonist (IL-1Ra) (86bp)n variable number of tandem repeats (VNTR) polymorphism with antidepressant response to paroxetine and mirtazapine treatment. The study group consisted of 101 patients suffering from DSM-IV major depression participating in a randomized double-blind controlled clinical trial. Patients homozygous for the IL-1β-511T allele had a significantly faster and more pronounced response to paroxetine treatment than IL-1β-511C allele carriers. No association was found for the IL-1β C-511T polymorphism with mirtazapine treatment response. The IL-1Ra VNTR showed neither an association with paroxetine nor with mirtazapine treatment response. Our results provide further suggestive evidence that time course of response and antidepressant efficacy of paroxetine, but not of mirtazapine, is influenced in a clinically relevant manner by the IL-1β C-511T gene variant. Our data do not support the hypothesis that the IL-1Ra (86bp)n VNTR affects antidepressant treatment response to paroxetine or mirtazapine. An independent replication of our finding is needed. If replicated, the IL-1β C-511T promoter polymorphism could be considered useful for prospective confirmatory pharmacogenetic trials in patients with major depression.Keywords: major depression, antidepressive agents, treat

Published
2008

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