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1. Psychological trauma and the genetic overlap between posttraumatic stress disorder and major depressive disorder

Author: Mundy, Jessica, Hübel, Christopher, Gelernter, Joel, Levey, Daniel, Murray, Robin M, Skelton, Megan, Stein, Murray B, Maihofer, Adam X, Nievergelt, Caroline M, Baker, Dewlen G, Risborough, Victoria B, Calabrese, Joseph R, Galea, Sandro, Stein, Dan J, Koen, Nastassja, Dalvie, Shareefa, Aiello, Allison E, Roberts, Andrea L, Koenen, KC, Solovieff, Nadia, Kranzler, Henry R, Zhao, Hongyu, Farrer, Lindsay A, Johnson, Eric Otto, Rice, John P, Bierut, Laura J, Saccone, Nancy L, McFarlane, Alexander, Forbes, David, Silove, Derrick, O'Donnell, Meaghan, Bryant, Richard A, van Hooff, Miranda, Sponheim, Scott R, Disner, Seth G, Pietrzak, Robert H, Chen, Chia-Yen, Smoller, Jordan W, Ursano, Robert J, Kessler, Ronald C, Junglen, Angela G, Delahanty, Douglas L, Amstadter, Ananda B, Sheerin, Christina M, Ruggiero, Ken, McLaughlin, Katie A, Peverill, Matthew, Caldas-de-Almeida, JM, Austin, S Bryn, Gelaye, Bizu, Williams, Michelle A, Sanchez, Sixto E, Franz, Carol E, Panizzon, Matthew S, Lyons, Michael J, Kremen, William S, Andreassen, Ole A, Dale, Anders M, Rutten, Bart PF, Vinkers, Christiaan, Schijven, Dick, Geuze, Elbert, Vermetten, Eric, Luykx, Jurjen J, Boks, Marco P, Ashley-Koch, Allison E, Beckham, Jean C, Garrett, Melanie E, Hauser, Michael A, Dennis, Michelle F, Kimbrel, Nathan A, Qin, Xue-Jun, Karstoft, Karen-Inge, Andersen, Soren B, Borglum, Anders D, Hougaard, David Michael, Bybjerg-Grauholm, Jonas, Duncan, Laramie E, Bµkvad-Hansen, Marie, Nordentoft, Merete, Mors, Ole, Mortensen, PB, Werge, Thomas, Thompson, Wesley K, Wang, Yunpeng, Heath, Andrew C, Nelson, Elliot C, Martin, Nicholas G, Gordon, Scott D, Wolf, Erika J, Logue, Mark W, Miller, Mark W, McGlinchey, Regina E, Milberg, William, Erbes, Christopher R, Polusny, Melissa A, Arbisi, Paul A, and Peterson, Alan L
Subjects: Prevention, Clinical Research, Genetics, Serious Mental Illness, Depression, Post-Traumatic Stress Disorder (PTSD), Mental Health, Brain Disorders, Anxiety Disorders, Major Depressive Disorder, Human Genome, 2.3 Psychological, social and economic factors, Aetiology, Mental health, Good Health and Well Being, Posttraumatic stress disorder, major depressive disorder, psychological trauma, genetics, genetic correlations, polygenic risk scores, Million Veteran Program, Post Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium, Neurosciences, Public Health and Health Services, Psychology, Psychiatry
Abstract: BackgroundPosttraumatic stress disorder (PTSD) and major depressive disorder (MDD) are commonly reported co-occurring mental health consequences of psychological trauma exposure. The disorders have high genetic overlap. Trauma is a complex phenotype but research suggests that trauma sensitivity has a heritable basis. We investigated whether sensitivity to trauma in those with MDD reflects a similar genetic component in those with PTSD.MethodsGenetic correlations between PTSD and MDD in individuals reporting trauma and MDD in individuals not reporting trauma were estimated, as well as with recurrent MDD and single-episode MDD, using genome-wide association study (GWAS) summary statistics. Genetic correlations were replicated using PTSD data from the Psychiatric Genomics Consortium and the Million Veteran Program. Polygenic risk scores were generated in UK Biobank participants who met the criteria for lifetime MDD (N = 29 471). We investigated whether genetic loading for PTSD was associated with reporting trauma in these individuals.ResultsGenetic loading for PTSD was significantly associated with reporting trauma in individuals with MDD [OR 1.04 (95% CI 1.01-1.07), Empirical-p = 0.02]. PTSD was significantly more genetically correlated with recurrent MDD than with MDD in individuals not reporting trauma (rg differences = ~0.2, p < 0.008). Participants who had experienced recurrent MDD reported significantly higher rates of trauma than participants who had experienced single-episode MDD (χ2 > 166, p < 0.001).ConclusionsOur findings point towards the existence of genetic variants associated with trauma sensitivity that might be shared between PTSD and MDD, although replication with better powered GWAS is needed. Our findings corroborate previous research highlighting trauma exposure as a key risk factor for recurrent MDD.
Published: 2022

2. A large-scale genome-wide association study meta-analysis of cannabis use disorder.

Author: Johnson, Emma C, Demontis, Ditte, Thorgeirsson, Thorgeir E, Walters, Raymond K, Polimanti, Renato, Hatoum, Alexander S, Sanchez-Roige, Sandra, Paul, Sarah E, Wendt, Frank R, Clarke, Toni-Kim, Lai, Dongbing, Reginsson, Gunnar W, Zhou, Hang, He, June, Baranger, David AA, Gudbjartsson, Daniel F, Wedow, Robbee, Adkins, Daniel E, Adkins, Amy E, Alexander, Jeffry, Bacanu, Silviu-Alin, Bigdeli, Tim B, Boden, Joseph, Brown, Sandra A, Bucholz, Kathleen K, Bybjerg-Grauholm, Jonas, Corley, Robin P, Degenhardt, Louisa, Dick, Danielle M, Domingue, Benjamin W, Fox, Louis, Goate, Alison M, Gordon, Scott D, Hack, Laura M, Hancock, Dana B, Hartz, Sarah M, Hickie, Ian B, Hougaard, David M, Krauter, Kenneth, Lind, Penelope A, McClintick, Jeanette N, McQueen, Matthew B, Meyers, Jacquelyn L, Montgomery, Grant W, Mors, Ole, Mortensen, Preben B, Nordentoft, Merete, Pearson, John F, Peterson, Roseann E, Reynolds, Maureen D, Rice, John P, Runarsdottir, Valgerdur, Saccone, Nancy L, Sherva, Richard, Silberg, Judy L, Tarter, Ralph E, Tyrfingsson, Thorarinn, Wall, Tamara L, Webb, Bradley T, Werge, Thomas, Wetherill, Leah, Wright, Margaret J, Zellers, Stephanie, Adams, Mark J, Bierut, Laura J, Boardman, Jason D, Copeland, William E, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Grucza, Richard A, Harris, Kathleen Mullan, Heath, Andrew C, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Horwood, John, Iacono, William G, Johnson, Eric O, Kendler, Kenneth S, Kennedy, Martin A, Kranzler, Henry R, Madden, Pamela AF, Maes, Hermine H, Maher, Brion S, Martin, Nicholas G, McGue, Matthew, McIntosh, Andrew M, Medland, Sarah E, Nelson, Elliot C, Porjesz, Bernice, Riley, Brien P, Stallings, Michael C, Vanyukov, Michael M, Vrieze, Scott, Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Davis, Lea K, Bogdan, Ryan, Gelernter, Joel, and Edenberg, Howard J
Subjects: Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Humans, Marijuana Abuse, Risk, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Clinical Sciences, Public Health and Health Services, Psychology
Abstract: BackgroundVariation in liability to cannabis use disorder has a strong genetic component (estimated twin and family heritability about 50-70%) and is associated with negative outcomes, including increased risk of psychopathology. The aim of the study was to conduct a large genome-wide association study (GWAS) to identify novel genetic variants associated with cannabis use disorder.MethodsTo conduct this GWAS meta-analysis of cannabis use disorder and identify associations with genetic loci, we used samples from the Psychiatric Genomics Consortium Substance Use Disorders working group, iPSYCH, and deCODE (20 916 case samples, 363 116 control samples in total), contrasting cannabis use disorder cases with controls. To examine the genetic overlap between cannabis use disorder and 22 traits of interest (chosen because of previously published phenotypic correlations [eg, psychiatric disorders] or hypothesised associations [eg, chronotype] with cannabis use disorder), we used linkage disequilibrium score regression to calculate genetic correlations.FindingsWe identified two genome-wide significant loci: a novel chromosome 7 locus (FOXP2, lead single-nucleotide polymorphism [SNP] rs7783012; odds ratio [OR] 1·11, 95% CI 1·07-1·15, p=1·84 × 10-9) and the previously identified chromosome 8 locus (near CHRNA2 and EPHX2, lead SNP rs4732724; OR 0·89, 95% CI 0·86-0·93, p=6·46 × 10-9). Cannabis use disorder and cannabis use were genetically correlated (rg 0·50, p=1·50 × 10-21), but they showed significantly different genetic correlations with 12 of the 22 traits we tested, suggesting at least partially different genetic underpinnings of cannabis use and cannabis use disorder. Cannabis use disorder was positively genetically correlated with other psychopathology, including ADHD, major depression, and schizophrenia.InterpretationThese findings support the theory that cannabis use disorder has shared genetic liability with other psychopathology, and there is a distinction between genetic liability to cannabis use and cannabis use disorder.FundingNational Institute of Mental Health; National Institute on Alcohol Abuse and Alcoholism; National Institute on Drug Abuse; Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing; The European Commission, Horizon 2020; National Institute of Child Health and Human Development; Health Research Council of New Zealand; National Institute on Aging; Wellcome Trust Case Control Consortium; UK Research and Innovation Medical Research Council (UKRI MRC); The Brain & Behavior Research Foundation; National Institute on Deafness and Other Communication Disorders; Substance Abuse and Mental Health Services Administration (SAMHSA); National Institute of Biomedical Imaging and Bioengineering; National Health and Medical Research Council (NHMRC) Australia; Tobacco-Related Disease Research Program of the University of California; Families for Borderline Personality Disorder Research (Beth and Rob Elliott) 2018 NARSAD Young Investigator Grant; The National Child Health Research Foundation (Cure Kids); The Canterbury Medical Research Foundation; The New Zealand Lottery Grants Board; The University of Otago; The Carney Centre for Pharmacogenomics; The James Hume Bequest Fund; National Institutes of Health: Genes, Environment and Health Initiative; National Institutes of Health; National Cancer Institute; The William T Grant Foundation; Australian Research Council; The Virginia Tobacco Settlement Foundation; The VISN 1 and VISN 4 Mental Illness Research, Education, and Clinical Centers of the US Department of Veterans Affairs; The 5th Framework Programme (FP-5) GenomEUtwin Project; The Lundbeck Foundation; NIH-funded Shared Instrumentation Grant S10RR025141; Clinical Translational Sciences Award grants; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institute of General Medical Sciences.
Published: 2020

3. Genetic diversity fuels gene discovery for tobacco and alcohol use

Author: Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret I., Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel I., Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Hélène, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Faul, Jessica D., Silva, Lilian Fernandes, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry I., Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Mägi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orrù, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome I., Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zöllner, Sebastian, Zuccolo, Luisa, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Gagliano Taliun, Sarah A., Hancock, Dana B., Jiang, Bibo, Munafò, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., and Vrieze, Scott
Published: 2022
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4. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study

Author: Maihofer, Adam X., Choi, Karmel W., Coleman, Jonathan R.I., Daskalakis, Nikolaos P., Denckla, Christy A., Ketema, Elizabeth, Morey, Rajendra A., Polimanti, Renato, Ratanatharathorn, Andrew, Torres, Katy, Wingo, Aliza P., Zai, Clement C., Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Borglum, Anders D., Babic, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bradley, Bekh, Brashear, Meghan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, Jose Miguel, Chen, Chia-Yen, Dale, Anders M., Dalvie, Shareefa, Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Duncan, Laramie E., Kulenovic, Alma Dzubur, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gautam, Aarti, Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue-Jun, Karstoft, Karen-Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica L., Marmar, Charles, Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Michopoulos, Vasiliki, Milberg, William, Miller, Mark W., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben Bo, Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., Luella van den Heuvel, Leigh, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan, Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Yehuda, Rachel, Young, Keith A., Young, Ross McD., Zhao, Hongyu, Zoellner, Lori A., Haas, Magali, Lasseter, Heather, Provost, Allison C., Salem, Rany M., Sebat, Jonathan, Shaffer, Richard, Wu, Tianying, Ripke, Stephan, Daly, Mark J., Ressler, Kerry J., Koenen, Karestan C., Stein, Murray B., Nievergelt, Caroline M., Wendt, Frank R., Garcia-Argibay, Miguel, Cabrera-Mendoza, Brenda, Valdimarsdóttir, Unnur A., Nivard, Michel G., Larsson, Henrik, Mattheisen, Manuel, and Meier, Sandra M.
Published: 2023
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5. 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, Alcoholism, Alcohol Use and Health, Neurosciences, Brain Disorders, Substance Misuse, Mental Health, Genetics, Behavioral and Social Science, Human Genome, 2.1 Biological and endogenous factors, Aetiology, 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

6. CYP2A6 metabolism in the development of smoking behaviors in young adults

Author: Olfson, Emily, Bloom, Joseph, Bertelsen, Sarah, Budde, John P, Breslau, Naomi, Brooks, Andrew, Culverhouse, Robert, Chan, Grace, Chen, Li‐Shiun, Chorlian, David, Dick, Danielle M, Edenberg, Howard J, Hartz, Sarah, Hatsukami, Dorothy, Hesselbrock, Victor M, Johnson, Eric O, Kramer, John R, Kuperman, Samuel, Meyers, Jacquelyn L, Nurnberger, John, Porjesz, Bernice, Saccone, Nancy L, Schuckit, Marc A, Stitzel, Jerry, Tischfield, Jay A, Rice, John P, Goate, Alison, and Bierut, Laura J
Subjects: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Substance Misuse, Drug Abuse (NIDA only), Cancer, Tobacco Smoke and Health, Tobacco, Genetics, Brain Disorders, Respiratory, Good Health and Well Being, Adult, Cigarette Smoking, Cytochrome P-450 CYP2A6, Female, Humans, Male, Odds Ratio, Polymorphism, Single Nucleotide, Tobacco Use Disorder, White People, Young Adult, CYP2A6, genetics, nicotine dependence, smoking, young adults, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Biomedical and clinical sciences, Health sciences, Psychology
Abstract: Cytochrome P450 2A6 (CYP2A6) encodes the enzyme responsible for the majority of nicotine metabolism. Previous studies support that slow metabolizers smoke fewer cigarettes once nicotine dependent but provide conflicting results on the role of CYP2A6 in the development of dependence. By focusing on the critical period of young adulthood, this study examines the relationship of CYP2A6 variation and smoking milestones. A total of 1209 European American young adults enrolled in the Collaborative Study on the Genetics of Alcoholism were genotyped for CYP2A6 variants to calculate a previously well-validated metric that estimates nicotine metabolism. This metric was not associated with the transition from never smoking to smoking initiation nor with the transition from initiation to daily smoking (P > 0.4). But among young adults who had become daily smokers (n = 506), decreased metabolism was associated with increased risk of nicotine dependence (P = 0.03) (defined as Fagerström Test for Nicotine Dependence score ≥4). This finding was replicated in the Collaborative Genetic Study of Nicotine Dependence with 335 young adult daily smokers (P = 0.02). Secondary meta-analysis indicated that slow metabolizers had a 53 percent increased odds (OR = 1.53, 95 percent CI 1.11-2.11, P = 0.009) of developing nicotine dependence compared with normal metabolizers. Furthermore, secondary analyses examining four-level response of time to first cigarette after waking (>60, 31-60, 6-30, ≤5 minutes) demonstrated a robust effect of the metabolism metric in Collaborative Study on the Genetics of Alcoholism (P = 0.03) and Collaborative Genetic Study of Nicotine Dependence (P = 0.004), illustrating the important role of this measure of dependence. These findings highlight the complex role of CYP2A6 variation across different developmental stages of smoking behaviors.
Published: 2018

7. A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder

Author: Polimanti, Renato, Amstadter, Ananda B, Stein, Murray B, Almli, Lynn M, Baker, Dewleen G, Bierut, Laura J, Bradley, Bekh, Farrer, Lindsay A, Johnson, Eric O, King, Anthony, Kranzler, Henry R, Maihofer, Adam X, Rice, John P, Roberts, Andrea L, Saccone, Nancy L, Zhao, Hongyu, Liberzon, Israel, Ressler, Kerry J, Nievergelt, Caroline M, Koenen, Karestan C, Gelernter, Joel, and for The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup
Subjects: Behavioral and Social Science, Post-Traumatic Stress Disorder (PTSD), Mental Health, Genetics, Anxiety Disorders, Prevention, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Body Weights and Measures, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Reproduction, Risk, Sexual Behavior, Stress Disorders, Post-Traumatic, Trauma, Women, Anthropometric traits, Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup, Clinical Sciences
Abstract: BACKGROUND:The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. METHODS:We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behaviors and functions in women. The analysis was conducted using female-specific summary statistics from large genome-wide association studies (GWAS) and a cohort of 3577 European American women (966 PTSD cases and 2611 trauma-exposed controls). We applied a high-resolution polygenic score approach and Mendelian randomization analysis to investigate genetic correlations and causal relationships. RESULTS:We observed an inverse association of PTSD with genetically determined anthropometric traits related to body shape, independent of body mass index (BMI). The top association was related to BMI-adjusted waist circumference (WCadj; R = -0.079, P
Published: 2017

8. Environmental and genetic risk factors associated with total knee arthroplasty following cruciate ligament surgery

Author: Inclan, Paul M., primary, Brophy, Robert H., additional, Saccone, Nancy L., additional, Ma, Yinjiao, additional, Pham, Vy, additional, and Yanik, Elizabeth L., additional
Published: 2024
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9. Potential causal association between gut microbiome and posttraumatic stress disorder

Author: Cardiologie, Onderzoeksgroep 2, Brain, MGGZ, Hersenen-Medisch 1, Neurogenetica, Diagnostiek & Vroege Psychose Medisch, He, Qiang, Wang, Wenjing, Xu, Dingkang, Xiong, Yang, Tao, Chuanyuan, You, Chao, Ma, Lu, Ma, Junpeng, Nievergelt, Caroline M., Maihofer, Adam X., Klengel, Torsten, Atkinson, Elizabeth G., Chen, Chia Yen, Choi, Karmel W., Coleman, Jonathan R.I., Dalvie, Shareefa, Duncan, Laramie E., Logue, Mark W., Provost, Allison C., Ratanatharathorn, Andrew, Stein, Murray B., Torres, Katy, Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Søren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Børglum, Anders D., Bradley, Bekh, Brashear, Megan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, José M., Dale, Anders M., Daly, Mark J., Daskalakis, Nikolaos P., Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Dzubur-Kulenovic, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles, Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Harnal, Supriya, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue Jun, Junglen, Angela G., Karstoft, Karen Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin E., Linnstaedt, Sarah D., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica, Marmar, Charles, Martin, Alicia R., Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., McLeay, Sarah, Mehta, Divya, Milberg, William P., Miller, Mark W., Morey, Rajendra A., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Neale, Benjamin M., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Ripke, Stephan, Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Ken, Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Solovieff, Nadia, Sponheim, Scott R., Stein, Dan J., Sumner, Jennifer A., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan H., Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Wolff, Jonathan D., Yehuda, Rachel, Young, Keith A., Young, Ross Mc D., Zhao, Hongyu, Zoellner, Lori A., Liberzon, Israel, Ressler, Kerry J., Haas, Magali, Koenen, Karestan C., Cardiologie, Onderzoeksgroep 2, Brain, MGGZ, Hersenen-Medisch 1, Neurogenetica, Diagnostiek & Vroege Psychose Medisch, He, Qiang, Wang, Wenjing, Xu, Dingkang, Xiong, Yang, Tao, Chuanyuan, You, Chao, Ma, Lu, Ma, Junpeng, Nievergelt, Caroline M., Maihofer, Adam X., Klengel, Torsten, Atkinson, Elizabeth G., Chen, Chia Yen, Choi, Karmel W., Coleman, Jonathan R.I., Dalvie, Shareefa, Duncan, Laramie E., Logue, Mark W., Provost, Allison C., Ratanatharathorn, Andrew, Stein, Murray B., Torres, Katy, Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Søren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Børglum, Anders D., Bradley, Bekh, Brashear, Megan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, José M., Dale, Anders M., Daly, Mark J., Daskalakis, Nikolaos P., Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Dzubur-Kulenovic, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles, Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Harnal, Supriya, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue Jun, Junglen, Angela G., Karstoft, Karen Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin E., Linnstaedt, Sarah D., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica, Marmar, Charles, Martin, Alicia R., Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., McLeay, Sarah, Mehta, Divya, Milberg, William P., Miller, Mark W., Morey, Rajendra A., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Neale, Benjamin M., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Ripke, Stephan, Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Ken, Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Solovieff, Nadia, Sponheim, Scott R., Stein, Dan J., Sumner, Jennifer A., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan H., Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Wolff, Jonathan D., Yehuda, Rachel, Young, Keith A., Young, Ross Mc D., Zhao, Hongyu, Zoellner, Lori A., Liberzon, Israel, Ressler, Kerry J., Haas, Magali, and Koenen, Karestan C.
Published: 2024

10. A large-scale genome-wide association study meta-analysis of cannabis use disorder

Author: Walters, Raymond, Polimanti, Renato, Johnson, Emma, McClintick, Jeanette, Hatoum, Alexander, He, June, Wendt, Frank, Zhou, Hang, Adams, Mark, Adkins, Amy, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna, Bigdeli, Tim, Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna, Edwards, Alexis, Fontanillas, Pierre, Foo, Jerome, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura, Hartmann, Annette, Hartz, Sarah, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffman, Per, Hottenga, Jouke, Kennedy, Martin, Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion, Mbarek, Hamdi, McIntosh, Andrew, McQueen, Matthew, Meyers, Jacquelyn, Milaneschi, Yuri, Palviainen, Teemu, Pearson, John, Peterson, Roseann, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy, Salvatore, Jessica, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley, Wedow, Robbee, Wetherill, Leah, Wills, Amanda, Boardman, Jason, Chen, Danfeng, Choi, Doo-Sup, Copeland, William, Culverhouse, Robert, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin, Elson, Sarah, Frye, Mark, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison, Nurnberger, John, Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, Wodarz, Norbert, Zill, Peter, Adkins, Daniel, Boden, Joseph, Boomsma, Dorret, Bierut, Laura, Brown, Sandra, Bucholz, Kathleen, Cichon, Sven, Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Dick, Danielle, Eriksson, Johan, Farrer, Lindsay, Foroud, Tatiana, Gillespie, Nathan, Goate, Alison, Goldman, David, Grucza, Richard, Hancock, Dana, Harris, Kathleen Mullan, Heath, Andrew, Hesselbrock, Victor, Hewitt, John, Hopfer, Christian, Horwood, John, Iacono, William, Johnson, Eric, Kaprio, Jaakko, Karpyak, Victor, Kendler, Kenneth, Kranzler, Henry, Krauter, Kenneth, Lichtenstein, Paul, Lind, Penelope, McGue, Matt, MacKillop, James, Madden, Pamela, Maes, Hermine, Magnusson, Patrik, Martin, Nicholas, Medland, Sarah, Montgomery, Grant, Nelson, Elliot, Nöthen, Markus, Palmer, Abraham, Pederson, Nancy, Penninx, Brenda, Porjesz, Bernice, Rice, John, Rietschel, Marcella, Riley, Brien, Rose, Richard, Rujescu, Dan, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael, Tarter, Ralph, Vanyukov, Michael, Vrieze, Scott, Wall, Tamara, Whitfield, John, Zhao, Hongyu, Neale, Benjamin, Gelernter, Joel, Edenberg, Howard, Agrawal, Arpana, Johnson, Emma C, Demontis, Ditte, Thorgeirsson, Thorgeir E, Walters, Raymond K, Hatoum, Alexander S, Paul, Sarah E, Wendt, Frank R, Reginsson, Gunnar W, Baranger, David A A, Gudbjartsson, Daniel F, Adkins, Daniel E, Adkins, Amy E, Alexander, Jeffry, Bigdeli, Tim B, Brown, Sandra A, Bucholz, Kathleen K, Bybjerg-Grauholm, Jonas, Corley, Robin P, Dick, Danielle M, Domingue, Benjamin W, Goate, Alison M, Gordon, Scott D, Hack, Laura M, Hancock, Dana B, Hartz, Sarah M, Hickie, Ian B, Hougaard, David M, Lind, Penelope A, McClintick, Jeanette N, McQueen, Matthew B, Meyers, Jacquelyn L, Montgomery, Grant W, Mors, Ole, Mortensen, Preben B, Nordentoft, Merete, Pearson, John F, Peterson, Roseann E, Reynolds, Maureen D, Rice, John P, Runarsdottir, Valgerdur, Saccone, Nancy L, Silberg, Judy L, Tarter, Ralph E, Tyrfingsson, Thorarinn, Wall, Tamara L, Webb, Bradley T, Werge, Thomas, Wright, Margaret J, Zellers, Stephanie, Adams, Mark J, Bierut, Laura J, Boardman, Jason D, Copeland, William E, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Grucza, Richard A, Heath, Andrew C, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Kendler, Kenneth S, Kennedy, Martin A, Kranzler, Henry R, Madden, Pamela A F, Maes, Hermine H, Maher, Brion S, Martin, Nicholas G, McGue, Matthew, McIntosh, Andrew M, Medland, Sarah E, Nelson, Elliot C, Riley, Brien P, Stallings, Michael C, Vanyukov, Michael M, Davis, Lea K, Bogdan, Ryan, Edenberg, Howard J, Stefansson, Kari, and Børglum, Anders D
Published: 2020
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11. E-cigarette Usage Is Associated With Increased Past-12-Month Quit Attempts and Successful Smoking Cessation in Two US Population–Based Surveys

Author: Johnson, Linda, Ma, Yinjiao, Fisher, Sherri L., Ramsey, Alex T., Chen, Li-Shiun, Hartz, Sarah M., Culverhouse, Robert C., Grucza, Richard A., Saccone, Nancy L., Baker, Timothy B., and Bierut, Laura J.
Published: 2019

12. CHRNB3‐CHRNA6 and risk of nicotine dependence

Author: Culverhouse, Robert C, Johnson, Eric O, Breslau, Naomi, Hatsukami, Dorothy K, Sadler, Brooke, Brooks, Andrew I, Hesselbrock, Victor M, Schuckit, Marc A, Tischfield, Jay A, Goate, Alison M, Saccone, Nancy L, and Bierut, Laura J
Subjects: Clinical and Health Psychology, Public Health, Health Sciences, Psychology, Substance Misuse, Drug Abuse (NIDA only), Tobacco Smoke and Health, Tobacco, Alcoholism, Alcohol Use and Health, Neurosciences, Genetics, Brain Disorders, Good Health and Well Being, Adolescent, Adult, Black or African American, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Receptors, Nicotinic, Tobacco Use Disorder, White People, Young Adult, chromosome 8, rs1451240, rs4952, rs13273442, substance dependence, rs6474412, European Americans, genetic risk, African Americans, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Public health, Clinical and health psychology
Abstract: AimsStudies have shown association between common variants in the α6-β3 nicotinic receptor subunit gene cluster and nicotine dependence in European ancestry populations. We investigate whether this generalizes to African Americans, whether the association is specific to nicotine dependence and whether this region contains additional genetic contributors to nicotine dependence.DesignWe examined consistency of association across studies and race between the α6β3 nicotinic receptor subunit locus and nicotine, alcohol, marijuana and cocaine dependence in three independent studies.SettingUnited States of America.ParticipantsEuropean Americans and African Americans from three case-control studies of substance dependence.MeasurementsSubjects were evaluated using the Semi-Structured Assessment for the Genetics of Alcoholism. Nicotine dependence was determined using the Fagerström Test for Nicotine Dependence.FindingsThe single nucleotide polymorphism rs13273442 was associated significantly with nicotine dependence across all three studies in both ancestry groups [odds ratio (OR) = 0.75, P = 5.8 × 10(-4) European Americans; OR = 0.80, P = 0.05 African Americans]. No other substance dependence was associated consistently with this variant in either group. Another SNP in the region, rs4952, remains modestly associated with nicotine dependence in the combined data after conditioning on rs13273442.ConclusionsThe common variant rs13273442 in the CHRNB3-CHNRA6 region is associated significantly with nicotine dependence in European Americans and African Americans across studies recruited for nicotine, alcohol and cocaine dependence. Although these data are modestly powered for other substances, our results provide no evidence that correlates of rs13273442 represent a general substance dependence liability. Additional variants probably account for some of the association of this region to nicotine dependence.
Published: 2014

13. Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans.

Author: Culverhouse, Robert C, Johnson, Eric O, Breslau, Naomi, Hatsukami, Dorothy K, Sadler, Brooke, Brooks, Andrew I, Hesselbrock, Victor M, Schuckit, Marc A, Tischfield, Jay A, Goate, Alison M, Saccone, Nancy L, and Bierut, Laura J
Subjects: Humans, Tobacco Use Disorder, Genetic Predisposition to Disease, Receptors, Nicotinic, Polymorphism, Single Nucleotide, Adolescent, Adult, Aged, Middle Aged, African Americans, European Continental Ancestry Group, Female, Male, Young Adult, European Americans, chromosome 8, genetic risk, rs13273442, rs1451240, rs4952, rs6474412, substance dependence, Brain Disorders, Drug Abuse (NIDA Only), Substance Abuse, Tobacco, Tobacco Smoke and Health, Genetics, Neurosciences, Alcoholism, Alcohol Use and Health, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract: AimsStudies have shown association between common variants in the α6-β3 nicotinic receptor subunit gene cluster and nicotine dependence in European ancestry populations. We investigate whether this generalizes to African Americans, whether the association is specific to nicotine dependence and whether this region contains additional genetic contributors to nicotine dependence.DesignWe examined consistency of association across studies and race between the α6β3 nicotinic receptor subunit locus and nicotine, alcohol, marijuana and cocaine dependence in three independent studies.SettingUnited States of America.ParticipantsEuropean Americans and African Americans from three case-control studies of substance dependence.MeasurementsSubjects were evaluated using the Semi-Structured Assessment for the Genetics of Alcoholism. Nicotine dependence was determined using the Fagerström Test for Nicotine Dependence.FindingsThe single nucleotide polymorphism rs13273442 was associated significantly with nicotine dependence across all three studies in both ancestry groups [odds ratio (OR) = 0.75, P = 5.8 × 10(-4) European Americans; OR = 0.80, P = 0.05 African Americans]. No other substance dependence was associated consistently with this variant in either group. Another SNP in the region, rs4952, remains modestly associated with nicotine dependence in the combined data after conditioning on rs13273442.ConclusionsThe common variant rs13273442 in the CHRNB3-CHNRA6 region is associated significantly with nicotine dependence in European Americans and African Americans across studies recruited for nicotine, alcohol and cocaine dependence. Although these data are modestly powered for other substances, our results provide no evidence that correlates of rs13273442 represent a general substance dependence liability. Additional variants probably account for some of the association of this region to nicotine dependence.
Published: 2014

14. Factors associated with genetic markers for rotator cuff disease in patients with atraumatic rotator cuff tears.

Author: Yanik, Elizabeth L., Saccone, Nancy L., Aleem, Alexander W., Chamberlain, Aaron M., Zmistowski, Benjamin, Sefko, Julianne A., and Keener, Jay D.
Subjects: *ROTATOR cuff, *GENETIC markers, *SINGLE nucleotide polymorphisms, *GENETICS, *MULTIPLE comparisons (Statistics), *SHOULDER disorders
Abstract: For atraumatic rotator cuff tears, genetics contributes to symptomatic tear risk and may influence rotator cuff healing after surgical repair. But little is known about how genetic factors influence rotator cuff tear patient characteristics at presentation. We collected saliva samples for genotyping from atraumatic rotator cuff tear patients. We examined nine single nucleotide polymorphisms (SNPs) associated with cuff tears in prior literature. We estimated associations of SNP dosage with (1) age at tear diagnosis, (2) bilateral atraumatic tear prevalence, and (3) tear size. Linear regression was used to estimate associations with diagnosis age adjusted for sex and principal components. Logistic regression and ordinal logistic regression were used to estimate associations with bilateral tear prevalence and tear size category, respectively, adjusting for age, sex, and principal components. Of 344 eligible patients, 336 provided sufficient samples for genotyping. Median age at tear diagnosis was 61, 22% (N = 74) had bilateral atraumatic tears, and 9% (N = 29) had massive tears. SNP rs13107325 in the SLC39A8 gene and rs11850957 in the STXBP6 gene were associated with younger diagnosis age even after accounting for multiple comparisons (rs13107325: −4 years, 95% CI = −6.5, −1.4; rs11850957: −2.7 years, 95% CI = −4.3, −1.1). No other significant associations were observed with diagnosis age, tear size, or bilateral tear prevalence. SLC39A8 encodes a Mn transporter. STXBP6 may play a role in inflammatory responses by altering phagocytosis and antigen presentation of monocytes and macrophages. Further research is needed to determine if genetic markers can be used alongside patient characteristics to aid in identifying optimal surgical repair candidates. [ABSTRACT FROM AUTHOR]
Published: 2024
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15. Genome-Wide Association Study of Heavy Smoking and Daily/Nondaily Smoking in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

Author: Saccone, Nancy L., Emery, Leslie S., Sofer, Tamar, Gogarten, Stephanie M., Becker, Diane M., Bottinger, Erwin P., Chen, Li-Shiun, Culverhouse, Robert C., Duan, Weimin, Hancock, Dana B., Hosgood, H. Dean, Johnson, Eric O., Loos, Ruth J. F., Louie, Tin, Papanicolaou, George, Perreira, Krista M., Rodriquez, Erik J., Schurmann, Claudia, Stilp, Adrienne M., Szpiro, Adam A., Talavera, Gregory A., Taylor, Kent D., Thrasher, James F., Yanek, Lisa R., Laurie, Cathy C., Pérez-Stable, Eliseo J., Bierut, Laura J., and Kaplan, Robert C.
Published: 2018

16. The Value of Biosamples in Smoking Cessation Trials : A Review of Genetic, Metabolomic, and Epigenetic Findings

Author: Genetics and Treatment Networks of the Society for Research on Nicotine and Tobacco (SRNT), Saccone, Nancy L., Baurley, James W., Bergen, Andrew W., David, Sean P., Elliott, Hannah R., Foreman, Marilyn G., Kaprio, Jaakko, Piasecki, Thomas M., Relton, Caroline L., Zawertailo, Laurie, Bierut, Laura J., Tyndale, Rachel F., and Chen, Li-Shiun
Published: 2018

17. Leveraging Genomic Data in Smoking Cessation Trials in the Era of Precision Medicine : Why and How

Author: Genetics and Treatment Workgroup of the Society for Research on Nicotine and Tobacco (SRNT), Chen, Li-Shiun, Zawertailo, Laurie, Piasecki, Thomas M., Kaprio, Jaakko, Foreman, Marilyn, Elliott, Hannah R., David, Sean P., Bergen, Andrew W., Baurley, James W., Tyndale, Rachel F., Baker, Timothy B., Bierut, Laura J., and Saccone, Nancy L.
Published: 2018

18. Is the Fagerström test for nicotine dependence invariant across secular trends in smoking? A question for cross-birth cohort analysis of nicotine dependence

Author: Glasheen, Cristie, Johnson, Eric O., Saccone, Nancy L., Lutz, Sharon M., Baker, Timothy B., McNeil, Daniel W., Marazita, Mary L., Hokanson, John E., Bierut, Laura J., and Hancock, Dana B.
Published: 2018
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19. Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits

Author: Quach, Bryan C., Bray, Michael J., Gaddis, Nathan C., Liu, Mengzhen, Palviainen, Teemu, Minica, Camelia C., Zellers, Stephanie, Sherva, Richard, Aliev, Fazil, Nothnagel, Michael, Young, Kendra A., Marks, Jesse A., Young, Hannah, Carnes, Megan U., Guo, Yuelong, Waldrop, Alex, Sey, Nancy Y. A., Landi, Maria T., McNeil, Daniel W., Drichel, Dmitriy, Farrer, Lindsay A., Markunas, Christina A., Vink, Jacqueline M., Hottenga, Jouke-Jan, Iacono, William G., Kranzler, Henry R., Saccone, Nancy L., Neale, Michael C., Madden, Pamela, Rietschel, Marcella, Marazita, Mary L., McGue, Matthew, Won, Hyejung, Winterer, Georg, Grucza, Richard, Dick, Danielle M., Gelernter, Joel, Caporaso, Neil E., Baker, Timothy B., Boomsma, Dorret I., Kaprio, Jaakko, Hokanson, John E., Vrieze, Scott, Bierut, Laura J., Johnson, Eric O., and Hancock, Dana B.
Published: 2020
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20. Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism.

Author: Bierut, Laura Jean, Saccone, Nancy L, Rice, John P, Goate, Alison, Foroud, Tatiana, Edenberg, Howard, Almasy, Laura, Conneally, P Michael, Crowe, Raymond, Hesselbrock, Victor, Li, TK, Nurnberger, John, Porjesz, Bernice, Schuckit, Marc A, Tischfield, Jay, Begleiter, Henri, and Reich, Theodore
Subjects: Public Health, Health Sciences, Clinical Research, Substance Misuse, Genetic Testing, Human Genome, Alcoholism, Alcohol Use and Health, Genetics, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Alcoholism, Diagnostic and Statistical Manual of Mental Disorders, Electroencephalography, Genetic Predisposition to Disease, Humans, Molecular Biology, Phenotype, genetic theory of AODU (alcohol and other, drug use), AODR (alcohol and other drug related) genetic markers, phenotype, chromosome, AOD dependence potential, genetic variance, genetic trait, comorbidity, major depression, AOD intake per occasion, electroencephalography, genetic linkage, genetic correlation analysis, Public Health and Health Services, Psychology, Substance Abuse
Abstract: Alcoholism is a disease that runs in families and results at least in part from genetic risk factors. The Collaborative Study on the Genetics of Alcoholism (COGA) is a Federally funded effort to identify and characterize those genetic factors. The study involves more than 1,000 alcoholic subjects and their families, with researchers conducting comprehensive psychological, physiological, electrophysiological, and genetic analyses of the participants. These analyses have identified several traits, or phenotypes, that appear to be genetically determined, such as the presence of alcohol dependence, the level of response to alcohol, the presence of coexisting depression, or the maximum number of drinks a person consumes per occasion. Genetic analyses have identified regions on several chromosomes that are associated with these phenotypes and need to be studied further.
Published: 2002

21. Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

Author: Shlykov, Maksim A., primary, Giles, Erica M., additional, Kelly, Michael P., additional, Lin, Shiow J., additional, Pham, Vy T., additional, Saccone, Nancy L., additional, and Yanik, Elizabeth L., additional
Published: 2023
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22. Data from The CHRNA5-CHRNA3-CHRNB4 Nicotinic Receptor Subunit Gene Cluster Affects Risk for Nicotine Dependence in African-Americans and in European-Americans

Author: Saccone, Nancy L., primary, Wang, Jen C., primary, Breslau, Naomi, primary, Johnson, Eric O., primary, Hatsukami, Dorothy, primary, Saccone, Scott F., primary, Grucza, Richard A., primary, Sun, Lingwei, primary, Duan, Weimin, primary, Budde, John, primary, Culverhouse, Robert C., primary, Fox, Louis, primary, Hinrichs, Anthony L., primary, Steinbach, Joseph Henry, primary, Wu, Meng, primary, Rice, John P., primary, Goate, Alison M., primary, and Bierut, Laura J., primary
Published: 2023
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23. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

Author: Nievergelt, Caroline M., Maihofer, Adam X., Klengel, Torsten, Atkinson, Elizabeth G., Chen, Chia-Yen, Choi, Karmel W., Coleman, Jonathan R. I., Dalvie, Shareefa, Duncan, Laramie E., Gelernter, Joel, Levey, Daniel F., Logue, Mark W., Polimanti, Renato, Provost, Allison C., Ratanatharathorn, Andrew, Stein, Murray B., Torres, Katy, Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Søren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Børglum, Anders D., Bradley, Bekh, Brashear, Megan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas- de- Almeida, José M., Dale, Anders M., Daly, Mark J., Daskalakis, Nikolaos P., Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Dzubur-Kulenovic, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gelaye, Bizu, Geuze, Elbert, Gillespie, Charles, Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Harnal, Supriya, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M. J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue-Jun, Junglen, Angela G., Karstoft, Karen-Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A. M., Lewis, Catrin E., Linnstaedt, Sarah D., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica, Marmar, Charles, Martin, Alicia R., Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., McLeay, Sarah, Mehta, Divya, Milberg, William P., Miller, Mark W., Morey, Rajendra A., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Neale, Benjamin M., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Ripke, Stephan, Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Ken, Rung, Ariane, Rutten, Bart P. F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Sumner, Jennifer A., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan H., Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Wolff, Jonathan D., Yehuda, Rachel, Young, Ross McD., Young, Keith A., Zhao, Hongyu, Zoellner, Lori A., Liberzon, Israel, Ressler, Kerry J., Haas, Magali, and Koenen, Karestan C.
Published: 2019
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24. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study

Author: Wendt, Frank R., primary, Garcia-Argibay, Miguel, additional, Cabrera-Mendoza, Brenda, additional, Valdimarsdóttir, Unnur A., additional, Gelernter, Joel, additional, Stein, Murray B., additional, Nivard, Michel G., additional, Maihofer, Adam X., additional, Nievergelt, Caroline M., additional, Larsson, Henrik, additional, Mattheisen, Manuel, additional, Polimanti, Renato, additional, Meier, Sandra M., additional, Choi, Karmel W., additional, Coleman, Jonathan R.I., additional, Daskalakis, Nikolaos P., additional, Denckla, Christy A., additional, Ketema, Elizabeth, additional, Morey, Rajendra A., additional, Ratanatharathorn, Andrew, additional, Torres, Katy, additional, Wingo, Aliza P., additional, Zai, Clement C., additional, Aiello, Allison E., additional, Almli, Lynn M., additional, Amstadter, Ananda B., additional, Andersen, Soren B., additional, Andreassen, Ole A., additional, Arbisi, Paul A., additional, Ashley-Koch, Allison E., additional, Austin, S. Bryn, additional, Avdibegovic, Esmina, additional, Borglum, Anders D., additional, Babic, Dragan, additional, Bækvad-Hansen, Marie, additional, Baker, Dewleen G., additional, Beckham, Jean C., additional, Bierut, Laura J., additional, Bisson, Jonathan I., additional, Boks, Marco P., additional, Bolger, Elizabeth A., additional, Bradley, Bekh, additional, Brashear, Meghan, additional, Breen, Gerome, additional, Bryant, Richard A., additional, Bustamante, Angela C., additional, Bybjerg-Grauholm, Jonas, additional, Calabrese, Joseph R., additional, Caldas-de-Almeida, Jose Miguel, additional, Chen, Chia-Yen, additional, Dale, Anders M., additional, Dalvie, Shareefa, additional, Deckert, Jürgen, additional, Delahanty, Douglas L., additional, Dennis, Michelle F., additional, Disner, Seth G., additional, Domschke, Katharina, additional, Duncan, Laramie E., additional, Kulenovic, Alma Dzubur, additional, Erbes, Christopher R., additional, Evans, Alexandra, additional, Farrer, Lindsay A., additional, Feeny, Norah C., additional, Flory, Janine D., additional, Forbes, David, additional, Franz, Carol E., additional, Galea, Sandro, additional, Garrett, Melanie E., additional, Gautam, Aarti, additional, Gelaye, Bizu, additional, Geuze, Elbert, additional, Gillespie, Charles F., additional, Uka, Aferdita Goci, additional, Gordon, Scott D., additional, Guffanti, Guia, additional, Hammamieh, Rasha, additional, Hauser, Michael A., additional, Heath, Andrew C., additional, Hemmings, Sian M.J., additional, Hougaard, David Michael, additional, Jakovljevic, Miro, additional, Jett, Marti, additional, Johnson, Eric Otto, additional, Jones, Ian, additional, Jovanovic, Tanja, additional, Qin, Xue-Jun, additional, Karstoft, Karen-Inge, additional, Kaufman, Milissa L., additional, Kessler, Ronald C., additional, Khan, Alaptagin, additional, Kimbrel, Nathan A., additional, King, Anthony P., additional, Koen, Nastassja, additional, Kranzler, Henry R., additional, Kremen, William S., additional, Lawford, Bruce R., additional, Lebois, Lauren A.M., additional, Lewis, Catrin, additional, Liberzon, Israel, additional, Linnstaedt, Sarah D., additional, Logue, Mark W., additional, Lori, Adriana, additional, Lugonja, Bozo, additional, Luykx, Jurjen J., additional, Lyons, Michael J., additional, Maples-Keller, Jessica L., additional, Marmar, Charles, additional, Martin, Nicholas G., additional, Maurer, Douglas, additional, Mavissakalian, Matig R., additional, McFarlane, Alexander, additional, McGlinchey, Regina E., additional, McLaughlin, Katie A., additional, McLean, Samuel A., additional, Mehta, Divya, additional, Mellor, Rebecca, additional, Michopoulos, Vasiliki, additional, Milberg, William, additional, Miller, Mark W., additional, Morris, Charles Phillip, additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Nelson, Elliot C., additional, Nordentoft, Merete, additional, Norman, Sonya B., additional, O’Donnell, Meaghan, additional, Orcutt, Holly K., additional, Panizzon, Matthew S., additional, Peters, Edward S., additional, Peterson, Alan L., additional, Peverill, Matthew, additional, Pietrzak, Robert H., additional, Polusny, Melissa A., additional, Rice, John P., additional, Risbrough, Victoria B., additional, Roberts, Andrea L., additional, Rothbaum, Alex O., additional, Rothbaum, Barbara O., additional, Roy-Byrne, Peter, additional, Ruggiero, Kenneth J., additional, Rung, Ariane, additional, Rutten, Bart P.F., additional, Saccone, Nancy L., additional, Sanchez, Sixto E., additional, Schijven, Dick, additional, Seedat, Soraya, additional, Seligowski, Antonia V., additional, Seng, Julia S., additional, Sheerin, Christina M., additional, Silove, Derrick, additional, Smith, Alicia K., additional, Smoller, Jordan W., additional, Sponheim, Scott R., additional, Stein, Dan J., additional, Stevens, Jennifer S., additional, Teicher, Martin H., additional, Thompson, Wesley K., additional, Trapido, Edward, additional, Uddin, Monica, additional, Ursano, Robert J., additional, Luella van den Heuvel, Leigh, additional, Van Hooff, Miranda, additional, Vermetten, Eric, additional, Vinkers, Christiaan, additional, Voisey, Joanne, additional, Wang, Yunpeng, additional, Wang, Zhewu, additional, Werge, Thomas, additional, Williams, Michelle A., additional, Williamson, Douglas E., additional, Winternitz, Sherry, additional, Wolf, Christiane, additional, Wolf, Erika J., additional, Yehuda, Rachel, additional, Young, Keith A., additional, Young, Ross McD., additional, Zhao, Hongyu, additional, Zoellner, Lori A., additional, Haas, Magali, additional, Lasseter, Heather, additional, Provost, Allison C., additional, Salem, Rany M., additional, Sebat, Jonathan, additional, Shaffer, Richard, additional, Wu, Tianying, additional, Ripke, Stephan, additional, Daly, Mark J., additional, Ressler, Kerry J., additional, and Koenen, Karestan C., additional
Published: 2023
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25. Occupational demands associated with rotator cuff disease surgery in the UK Biobank

Author: Yanik, Elizabeth L, primary, Keener, Jay D, additional, Stevens, Martin J, additional, Walker-Bone, Karen E, additional, Dale, Ann Marie, additional, Ma, Yinjiao, additional, Colditz, Graham A, additional, Wright, Rick W, additional, Saccone, Nancy L, additional, Jain, Nitin B, additional, and Evanoff, Bradley A, additional
Published: 2022
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26. Functional characterization of enhancer activity during a long terminal repeat's evolution

Author: Du, Alan Y., primary, Zhuo, Xiaoyu, additional, Sundaram, Vasavi, additional, Jensen, Nicholas O., additional, Chaudhari, Hemangi G., additional, Saccone, Nancy L., additional, Cohen, Barak A., additional, and Wang, Ting, additional
Published: 2022
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27. 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 A.F., McGue, Matt, Munafò, Marcus R., Philibert, Robert A., Rietschel, Marcella, Roy, Alec, Rujescu, Dan, Saarikoski, Sirkku T., Swan, Gary E., Todorov, Alexandre A., Vanyukov, Michael M., Weiss, Robert B., Bierut, Laura J., and Saccone, Nancy L.
Published: 2016
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28. Enhancing discovery of genetic variants for PTSD through integration of quantitative phenotypes and trauma exposure information

Author: Maihofer, Adam X., Choi, Karmel W., Coleman, Jonathan R.I., Daskalakis, Nikolaos P., Denckla, Christy A., Ketema, Elizabeth, Morey, Rajendra A., Polimanti, Renato, Ratanatharathorn, Andrew, Torres, Katy, Wingo, Aliza P., Zai, Clement C., Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Borglum, Anders D., Babic, Dragan, Bkvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bradley, Bekh, Brashear, Meghan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, J.M., Chen, Chia-Yen, Dale, Anders M., Dalvie, Shareefa, Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Duncan, Laramie E., Kulenovic, Alma Dzubur, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gautam, Aarti, Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Goci, Aferdita, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue-Jun, Karstoft, Karen-Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica L., Marmar, Charles, Martin, Nicholas G., Maurer, D., Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Michopoulos, Vasiliki, Milberg, William, Miller, Mark W., Morris, Charles Phillip, Mors, Ole, Mortensen, P.B., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O'Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, P., Ruggiero, Kenneth J., Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, S., Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., Luella van den Heuvel, Leigh, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan, Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Yehuda, Rachel, Young, Keith A., Young, Ross McD., Zhao, Hongyu, Zoellner, Lori A., Haas, Magali, Lasseter, Heather, Provost, Allison C., Salem, Rany M., Sebat, Jonathan, Shaffer, Richard A., Wu, Tianying, Ripke, Stephan, Daly, Mark J., Ressler, Kerry J., Koenen, Karestan C., Stein, Murray B., and Nievergelt, Caroline M.
Subjects: trauma, mental disorders, PheWAS, GWAS, PTSD, genetics, heritability, behavioral disciplines and activities
Abstract: Background\ud Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) information could enhance the discovery power of PTSD genome-wide association studies (GWAS).\ud Methods\ud GWAS on PTSD symptoms was performed in 51 cohorts followed by a fixed-effects meta-analysis (N = 182,199 European Ancestry participants). A GWAS of LTE burden was performed in the UK Biobank cohort (N = 132,988). Genetic correlations were evaluated with LD-score regression. Multivariate analysis was performed using Multi-Trait Analysis of GWAS. Functional mapping and annotation of leading loci was performed with FUMA. Replication was evaluated using the Million Veteran Program (MVP) GWAS of PTSD total symptoms.\ud Results\ud GWAS of PTSD symptoms and LTE burden identified 5 and 6 independent genome-wide significant loci, respectively. There was a 72% genetic correlation between PTSD and LTE. PTSD and LTE showed largely similar patterns of genetic correlation with other traits, albeit with some distinctions. Adjusting PTSD for LTE reduced PTSD heritability by 31%. Multivariate analysis of PTSD and LTE increased the effective sample size of the PTSD GWAS by 20% and identified 4 additional loci. Four out of these 9 PTSD loci were independently replicated in MVP.\ud Conclusion\ud Through using a quantitative trait measure of PTSD, we identify novel risk loci not previously identified using prior case/control analyses. PTSD and LTE have a high genetic overlap that can be leveraged to increase discovery power through multivariate methods.
Published: 2022

29. Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information

Author: Maihofer, Adam X., Choi, Karmel W., Coleman, Jonathan R.I., Daskalakis, Nikolaos P., Denckla, Christy A., Ketema, Elizabeth, Morey, Rajendra A., Polimanti, Renato, Ratanatharathorn, Andrew, Torres, Katy, Wingo, Aliza P., Zai, Clement C., Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegović, Esmina, Borglum, Anders D., Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bradley, Bekh, Brashear, Meghan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, José M., Chen, Chia Yen, Dale, Anders M., Dalvie, Shareefa, Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Duncan, Laramie E., Džubur Kulenović, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gautam, Aarti, Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Goçi, Aferdita, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljević, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue Jun, Karstoft, Karen Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lugonja, Božo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica L., Marmar, Charles, Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Michopoulos, Vasiliki, Milberg, William, Miller, Mark W., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O'Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan, Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Yehuda, Rachel, Young, Keith A., Young, Ross Mc D., Zhao, Hongyu, Zoellner, Lori A., Haas, Magali, Lasseter, Heather, Provost, Allison C., Salem, Rany M., Sebat, Jonathan, Shaffer, Richard A., Wu, Tianying, Ripke, Stephan, Daly, Mark J., Ressler, Kerry J., Koenen, Karestan C., Stein, Murray B., Nievergelt, Caroline M., Maihofer, Adam X., Choi, Karmel W., Coleman, Jonathan R.I., Daskalakis, Nikolaos P., Denckla, Christy A., Ketema, Elizabeth, Morey, Rajendra A., Polimanti, Renato, Ratanatharathorn, Andrew, Torres, Katy, Wingo, Aliza P., Zai, Clement C., Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegović, Esmina, Borglum, Anders D., Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bradley, Bekh, Brashear, Meghan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, José M., Chen, Chia Yen, Dale, Anders M., Dalvie, Shareefa, Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Duncan, Laramie E., Džubur Kulenović, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gautam, Aarti, Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Goçi, Aferdita, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljević, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue Jun, Karstoft, Karen Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lugonja, Božo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica L., Marmar, Charles, Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Michopoulos, Vasiliki, Milberg, William, Miller, Mark W., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O'Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan, Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Yehuda, Rachel, Young, Keith A., Young, Ross Mc D., Zhao, Hongyu, Zoellner, Lori A., Haas, Magali, Lasseter, Heather, Provost, Allison C., Salem, Rany M., Sebat, Jonathan, Shaffer, Richard A., Wu, Tianying, Ripke, Stephan, Daly, Mark J., Ressler, Kerry J., Koenen, Karestan C., Stein, Murray B., and Nievergelt, Caroline M.
Abstract: Background: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) information could enhance the discovery power of PTSD genome-wide association studies (GWASs). Methods: A GWAS on PTSD symptoms was performed in 51 cohorts followed by a fixed-effects meta-analysis (N = 182,199 European ancestry participants). A GWAS of LTE burden was performed in the UK Biobank cohort (N = 132,988). Genetic correlations were evaluated with linkage disequilibrium score regression. Multivariate analysis was performed using Multi-Trait Analysis of GWAS. Functional mapping and annotation of leading loci was performed with FUMA. Replication was evaluated using the Million Veteran Program GWAS of PTSD total symptoms. Results: GWASs of PTSD symptoms and LTE burden identified 5 and 6 independent genome-wide significant loci, respectively. There was a 72% genetic correlation between PTSD and LTE. PTSD and LTE showed largely similar patterns of genetic correlation with other traits, albeit with some distinctions. Adjusting PTSD for LTE reduced PTSD heritability by 31%. Multivariate analysis of PTSD and LTE increased the effective sample size of the PTSD GWAS by 20% and identified 4 additional loci. Four of these 9 PTSD loci were independently replicated in the Million Veteran Program. Conclusions: Through using a quantitative trait measure of PTSD, we identified novel risk loci not previously identified using prior case-control analyses. PTSD and LTE have a high genetic overlap that can be leveraged to increase discovery power through multivariate methods.
Published: 2022

30. Nicotine dependence and comorbid psychiatric disorders: Examination of specific genetic variants in the CHRNA5-A3-B4 nicotinic receptor genes

Author: Chen, Li-Shiun, Xian, Hong, Grucza, Richard A., Saccone, Nancy L., Wang, Jen C., Johnson, Eric O., Breslau, Naomi, Hatsukami, Dorothy, and Bierut, Laura J.
Published: 2012
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31. Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information

Author: Maihofer, Adam X., primary, Choi, Karmel W., additional, Coleman, Jonathan R.I., additional, Daskalakis, Nikolaos P., additional, Denckla, Christy A., additional, Ketema, Elizabeth, additional, Morey, Rajendra A., additional, Polimanti, Renato, additional, Ratanatharathorn, Andrew, additional, Torres, Katy, additional, Wingo, Aliza P., additional, Zai, Clement C., additional, Aiello, Allison E., additional, Almli, Lynn M., additional, Amstadter, Ananda B., additional, Andersen, Soren B., additional, Andreassen, Ole A., additional, Arbisi, Paul A., additional, Ashley-Koch, Allison E., additional, Austin, S. Bryn, additional, Avdibegović, Esmina, additional, Borglum, Anders D., additional, Babić, Dragan, additional, Bækvad-Hansen, Marie, additional, Baker, Dewleen G., additional, Beckham, Jean C., additional, Bierut, Laura J., additional, Bisson, Jonathan I., additional, Boks, Marco P., additional, Bolger, Elizabeth A., additional, Bradley, Bekh, additional, Brashear, Meghan, additional, Breen, Gerome, additional, Bryant, Richard A., additional, Bustamante, Angela C., additional, Bybjerg-Grauholm, Jonas, additional, Calabrese, Joseph R., additional, Caldas-de-Almeida, José M., additional, Chen, Chia-Yen, additional, Dale, Anders M., additional, Dalvie, Shareefa, additional, Deckert, Jürgen, additional, Delahanty, Douglas L., additional, Dennis, Michelle F., additional, Disner, Seth G., additional, Domschke, Katharina, additional, Duncan, Laramie E., additional, Džubur Kulenović, Alma, additional, Erbes, Christopher R., additional, Evans, Alexandra, additional, Farrer, Lindsay A., additional, Feeny, Norah C., additional, Flory, Janine D., additional, Forbes, David, additional, Franz, Carol E., additional, Galea, Sandro, additional, Garrett, Melanie E., additional, Gautam, Aarti, additional, Gelaye, Bizu, additional, Gelernter, Joel, additional, Geuze, Elbert, additional, Gillespie, Charles F., additional, Goçi, Aferdita, additional, Gordon, Scott D., additional, Guffanti, Guia, additional, Hammamieh, Rasha, additional, Hauser, Michael A., additional, Heath, Andrew C., additional, Hemmings, Sian M.J., additional, Hougaard, David Michael, additional, Jakovljević, Miro, additional, Jett, Marti, additional, Johnson, Eric Otto, additional, Jones, Ian, additional, Jovanovic, Tanja, additional, Qin, Xue-Jun, additional, Karstoft, Karen-Inge, additional, Kaufman, Milissa L., additional, Kessler, Ronald C., additional, Khan, Alaptagin, additional, Kimbrel, Nathan A., additional, King, Anthony P., additional, Koen, Nastassja, additional, Kranzler, Henry R., additional, Kremen, William S., additional, Lawford, Bruce R., additional, Lebois, Lauren A.M., additional, Lewis, Catrin, additional, Liberzon, Israel, additional, Linnstaedt, Sarah D., additional, Logue, Mark W., additional, Lori, Adriana, additional, Lugonja, Božo, additional, Luykx, Jurjen J., additional, Lyons, Michael J., additional, Maples-Keller, Jessica L., additional, Marmar, Charles, additional, Martin, Nicholas G., additional, Maurer, Douglas, additional, Mavissakalian, Matig R., additional, McFarlane, Alexander, additional, McGlinchey, Regina E., additional, McLaughlin, Katie A., additional, McLean, Samuel A., additional, Mehta, Divya, additional, Mellor, Rebecca, additional, Michopoulos, Vasiliki, additional, Milberg, William, additional, Miller, Mark W., additional, Morris, Charles Phillip, additional, Mors, Ole, additional, Mortensen, Preben B., additional, Nelson, Elliot C., additional, Nordentoft, Merete, additional, Norman, Sonya B., additional, O’Donnell, Meaghan, additional, Orcutt, Holly K., additional, Panizzon, Matthew S., additional, Peters, Edward S., additional, Peterson, Alan L., additional, Peverill, Matthew, additional, Pietrzak, Robert H., additional, Polusny, Melissa A., additional, Rice, John P., additional, Risbrough, Victoria B., additional, Roberts, Andrea L., additional, Rothbaum, Alex O., additional, Rothbaum, Barbara O., additional, Roy-Byrne, Peter, additional, Ruggiero, Kenneth J., additional, Rung, Ariane, additional, Rutten, Bart P.F., additional, Saccone, Nancy L., additional, Sanchez, Sixto E., additional, Schijven, Dick, additional, Seedat, Soraya, additional, Seligowski, Antonia V., additional, Seng, Julia S., additional, Sheerin, Christina M., additional, Silove, Derrick, additional, Smith, Alicia K., additional, Smoller, Jordan W., additional, Sponheim, Scott R., additional, Stein, Dan J., additional, Stevens, Jennifer S., additional, Teicher, Martin H., additional, Thompson, Wesley K., additional, Trapido, Edward, additional, Uddin, Monica, additional, Ursano, Robert J., additional, van den Heuvel, Leigh Luella, additional, Van Hooff, Miranda, additional, Vermetten, Eric, additional, Vinkers, Christiaan H., additional, Voisey, Joanne, additional, Wang, Yunpeng, additional, Wang, Zhewu, additional, Werge, Thomas, additional, Williams, Michelle A., additional, Williamson, Douglas E., additional, Winternitz, Sherry, additional, Wolf, Christiane, additional, Wolf, Erika J., additional, Yehuda, Rachel, additional, Young, Keith A., additional, Young, Ross McD., additional, Zhao, Hongyu, additional, Zoellner, Lori A., additional, Haas, Magali, additional, Lasseter, Heather, additional, Provost, Allison C., additional, Salem, Rany M., additional, Sebat, Jonathan, additional, Shaffer, Richard A., additional, Wu, Tianying, additional, Ripke, Stephan, additional, Daly, Mark J., additional, Ressler, Kerry J., additional, Koenen, Karestan C., additional, Stein, Murray B., additional, and Nievergelt, Caroline M., additional
Published: 2022
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32. Evolution of transposable element-derived enhancer activity

Author: Du, Alan Y, primary, Zhuo, Xiaoyu, additional, Sundaram, Vasavi, additional, Jensen, Nicholas O, additional, Chaudhari, Hemangi G, additional, Saccone, Nancy L, additional, Cohen, Barak A, additional, and Wang, Ting, additional
Published: 2022
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33. A genome-wide association study of alcohol dependence

Author: Bierut, Laura J., Agrawal, Arpana, Bucholz, Kathleen K., Doheny, Kimberly F., Laurie, Cathy, Pugh, Elizabeth, Fisher, Sherri, Fox, Louis, Howells, William, Bertelsen, Sarah, Hinrichs, Anthony L., Almasy, Laura, Breslau, Naomi, Culverhouse, Robert C., Dick, Danielle M., Edenberg, Howard J., Foroud, Tatiana, Grucza, Richard A., Hatsukami, Dorothy, Hesselbrock, Victor, Johnson, Eric O., Kramer, John, Krueger, Robert F., Kuperman, Samuel, Lynskey, Michael, Mann, Karl, Neuman, Rosalind J., Nöthen, Markus M., Nurnberger,, John I., Porjesz, Bernice, Ridinger, Monika, Saccone, Nancy L., Saccone, Scott F., Schuckit, Marc A., Tischfield, Jay A., Wang, Jen C., Rietschel, Marcella, Goate, Alison M., Rice, John P., and King, Mary-Claire
Published: 2010
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34. The Immunogenetics of Smallpox Vaccination

Author: Stanley, Samuel L., Frey, Sharon E., Taillon-Miller, Patricia, Guo, Jianhua, Miller, Raymond D., Koboldt, Daniel C., Elashoff, Michael, Christensen, Ryan, Saccone, Nancy L., and Belshe, Robert B.
Published: 2007
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35. Occupational demands associated with rotator cuff disease surgery in the UK Biobank.

Author: Yanik, Elizabeth L., Keener, Jay D., Stevens, Martin J., Walker-Bone, Karen E., Dale, Ann Marie, Yinjiao Ma, Colditz, Graham A., Wright, Rick W., Saccone, Nancy L., Jain, Nitin B., and Evanoff, Bradley A.
Subjects: ROTATOR cuff, WHOLE-body vibration, PREOPERATIVE risk factors, OCCUPATIONAL exposure, JOB classification, BODY mass index
Abstract: Objectives Physically-demanding occupations may increase rotator cuff disease (RCD) risk and need for surgery. We linked a job-exposure matrix (JEM) to the UK Biobank cohort study to measure physical occupational exposures and estimate associations with RCD surgery. Methods Jobs and UK Standard Occupational Classification (SOC) codes were recorded during the UK Biobank verbal interview. Lifetime job histories were captured through a web-based survey. UK SOC codes were linked to a JEM based on the US O*NET database. O*NET-based scores [static strength, dynamic strength, general physical activities, handling/moving objects (range=1-7), time spent using hands, whole body vibration, and cramped/awkward positions (range=1-5)] were assigned to jobs. RCD surgeries were identified through linked national hospital inpatient records. Multivariable Cox regression was used to calculate hazard ratios (HR) as estimates of associations with RCD surgery. Among those with lifetime job histories, associations were estimated for duration of time with greatest exposure (top quartile of exposure). Results Of 277 808 people reporting jobs, 1997 (0.7%) had an inpatient RCD surgery. After adjusting for age, sex, race, education, area deprivation, and body mass index, all O*NET variables considered were associated with RCD surgery (HR per point increase range=1.10-1.45, all P<0.005). A total of 100 929 people reported lifetime job histories, in which greater exposures were significantly associated with RCD surgery after >10 years of work (eg, HR for 11-20 versus 0 years with static strength score =4 = 2.06, 95% confidence interval 1.39-3.04). Conclusion Workplace physical demands are an important risk factor for RCD surgery, particularly for workers with more than a decade of exposure. [ABSTRACT FROM AUTHOR]
Published: 2023
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36. A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence

Author: Hancock, Dana B., Wang, Jen-Chyong, Gaddis, Nathan C., Levy, Joshua L., Saccone, Nancy L., Stitzel, Jerry A., Goate, Alison, Bierut, Laura J., and Johnson, Eric O.
Published: 2015
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37. Model-based assessment of replicability for genome-wide association meta-analysis

Author: McGuire, Daniel, Jiang, Yu, Liu, Mengzhen, Weissenkampen, J. Dylan, Eckert, Scott, Yang, Lina, Chen, Fang, Liu, MengZhen, Wedow, Robbee, Li, Yue, Brazel, David M., Datta, Gargi, Davila-Velderrain, Jose, Tian, Chao, Zhan, Xiaowei, Choquet, H. éléne, Docherty, Anna R., Faul, Jessica D., Foerster, Johanna R., Fritsche, Lars, Gabrielsen, Maiken Elvestad, Gordon, Scott D., Haessler, Jeffrey, Hottenga, Jouke-Jan, Huang, Hongyan, Jang, Seon-Kyeong, Jansen, Philip R., Ling, Yueh, Ma ̈gi, Reedik, Matoba, Nana, McMahon, George, Mulas, Antonella, Orru, Valeria, Palviainen, Teemu, Pandit, Anita, Reginsson, Gunnar W., Skogholt, Anne Heidi, Smith, Jennifer A., Taylor, Amy E., Turman, Constance, Willemsen, Gonneke, Young, Hannah, Young, Kendra A., Zajac, Gregory J. M., Zhao, Wei, Zhou, Wei, Bjornsdottir, Gyda, Boardman, Jason D., Boehnke, Michael, Boomsma, Dorret I., Chen, Chu, Cucca, Francesco, Davies, Gareth E., Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Fiorillo, Edoardo, Gillespie, Nathan A., Gudbjartsson, Daniel F., Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C., Hewitt, John K., Hickie, Ian B., Hokanson, John E., Hopfer, Christian J., Hunter, David J., Iacono, William G., Johnson, Eric O., Kamatani, Yoichiro, Kardia, Sharon L. R., Keller, Matthew C., Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S., Laakso, Markku, Lind, Penelope A., Loukola, Anu, Lutz, Sharon M., Madden, Pamela A. F., Martin, Nicholas G., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Mohlke, Karen L., Nielsen, Jonas B., Okada, Yukinori, Peters, Ulrike, Polderman, Tinca J. C., Posthuma, Danielle, Reiner, Alexander P., Rice, JP, Rimm, Eric, Rose, Richard J., Runarsdottir, Valgerdur, Stallings, Michael C., Stanˇca ́kova, Alena, Stefansson, Hreinn, Thai, Khanh K., Tindle, Hilary A., Tyrfingsson, Thorarinn, Wall, Tamara L., Weir, David R., Weisner, Constance M, Whitfield, John B., Winsvold, Bendik K S, Yin, Jie, Zuccolo, Luisa, Bierut, Laura J., Hveem, Kristian, Lee, James J., Munafo, Marcus R., Saccone, Nancy L., Willer, Cristen J, Cornelis, Marilyn C., David, Sean P., Hinds, David, Jorgenson, Eric, Kaprio, Jaakko, Stitzel, Jerry A., Stefansson, Kari, Thorgeirsson, Thorgeir E., Abecasis, Goncalo, Liu, Dajiang J., Vrieze, Scott, Berg, Arthur, Jiang, Bibo, Li, Qunhua, Technology Centre, Institute for Molecular Medicine Finland, Genetic Epidemiology, HUSLAB, Centre of Excellence in Complex Disease Genetics, Jaakko Kaprio / Principal Investigator, Department of Public Health, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Aging & Later Life, APH - Mental Health, Child and Adolescent Psychiatry / Psychology, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, and Clinical Developmental Psychology
Subjects: 0301 basic medicine, Genotype, Computer science, Science, General Physics and Astronomy, Genome-wide association study, Genomics, Computational biology, Genome-wide association studies, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Meta-Analysis as Topic, Replication (statistics), Genetic Association Studies, Multidisciplinary, biology, Models, Genetic, Statistics, Mamba, Computational Biology, Reproducibility of Results, General Chemistry, Replicate, biology.organism_classification, 030104 developmental biology, Phenotype, Sample size determination, Sample Size, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, 030217 neurology & neurosurgery, Imputation (genetics), Software, Algorithms, Genome-Wide Association Study
Abstract: Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a gold-standard for validating genetic associations. However, as current GWAMA often seeks to aggregate all available datasets, it becomes impossible to find a large enough independent dataset to replicate new discoveries. Here we introduce a method, MAMBA (Meta-Analysis Model-based Assessment of replicability), for assessing the “posterior-probability-of-replicability” for identified associations by leveraging the strength and consistency of association signals between contributing studies. We demonstrate using simulations that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates. We apply MAMBA to a large-scale meta-analysis of addiction phenotypes with 1.2 million individuals. In addition to accurately identifying replicable common variant associations, MAMBA also pinpoints novel replicable rare variant associations from imputation-based GWAMA and hence greatly expands the set of analyzable variants., In genome-wide association meta-analysis, it is often difficult to find an independent dataset of sufficient size to replicate associations. Here, the authors have developed MAMBA to calculate the probability of replicability based on consistency between datasets within the meta-analysis.
Published: 2021

38. Imputation across genotyping arrays for genome-wide association studies: assessment of bias and a correction strategy

Author: Johnson, Eric O., Hancock, Dana B., Levy, Joshua L., Gaddis, Nathan C., Saccone, Nancy L., Bierut, Laura J., and Page, Grier P.
Published: 2013
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39. 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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40. Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence

Author: Culverhouse, Robert C., Saccone, Nancy L., Stitzel, Jerry A., Wang, Jen C., Steinbach, Joseph H., Goate, Alison M., Schwantes-An, Tae-Hwi, Grucza, Richard A., Stevens, Victoria L., and Bierut, Laura J.
Published: 2011
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41. Linkage scan for quantitative traits identifies new regions of interest for substance dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample

Author: Agrawal, Arpana, Hinrichs, Anthony L., Dunn, Gerald, Bertelsen, Sarah, Dick, Danielle M., Saccone, Scott F., Saccone, Nancy L., Grucza, Richard A., Wang, Jen C., Cloninger, C. Robert, Edenberg, Howard J., Foroud, Tatiana, Hesselbrock, Victor, Kramer, John, Bucholz, Kathleen K., Kuperman, Samuel, Nurnberger, John I., Jr., Porjesz, Bernice, Schuckit, Marc A., Goate, Alison M., and Bierut, Laura J.
Published: 2008
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42. Beyond Cigarettes Per Day. A Genome-Wide Association Study of the Biomarker Carbon Monoxide

Author: Bloom, Joseph A., Hartz, Sarah M., Baker, Timothy B., Chen, Li-Shiun, Piper, Megan E., Fox, Louis, Martinez, Maribel, Hatsukami, Dorothy, Johnson, Eric O., Laurie, Cathy C., Saccone, Nancy L., Goate, Alison, and Bierut, Laura J.
Published: 2014
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43. A glimpse into the future – Personalized medicine for smoking cessation

Author: Bierut, Laura Jean, Johnson, Eric O., and Saccone, Nancy L.
Published: 2014
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44. Studying the Utility of Using Genetics to Predict Smoking-Related Outcomes in a Population-Based Study and a Selected Cohort

Author: Bray, Michael J, primary, Chen, Li-Shiun, additional, Fox, Louis, additional, Ma, Yinjiao, additional, Grucza, Richard A, additional, Hartz, Sarah M, additional, Culverhouse, Robert C, additional, Saccone, Nancy L, additional, Hancock, Dana B, additional, Johnson, Eric O, additional, McKay, James D, additional, Baker, Timothy B, additional, and Bierut, Laura J, additional
Published: 2021
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45. Identification of a Novel Genetic Marker for Risk of Degenerative Rotator Cuff Disease Surgery in the UK Biobank

Author: Yanik, Elizabeth L., primary, Keener, Jay D., additional, Lin, Shiow J., additional, Colditz, Graham A., additional, Wright, Rick W., additional, Evanoff, Bradley A., additional, Jain, Nitin B., additional, and Saccone, Nancy L., additional
Published: 2021
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46. 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

47. Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Author: Helms, Cynthia, Saccone, Nancy L., Cao, Li, Daw, Jil A. Wright., Cao, Kai, Hsu, Tony M., Taillon-Miller, Patricia, Duan, Shenghui, Gordon, Derek, Pierce, Brandon, Ott, Jurg, Rice, John, Fernandez-Vina, Marcelo A., Kwok, Pui-Yan, Menter, Alan, and Bowcock, Anne M.
Published: 2005
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48. ANKK1, TTC12, and NCAM1 Polymorphisms and Heroin Dependence: Importance of Considering Drug Exposure

Author: Nelson, Elliot C., Lynskey, Michael T., Heath, Andrew C., Wray, Naomi, Agrawal, Arpana, Shand, Fiona L., Henders, Anjali K., Wallace, Leanne, Todorov, Alexandre A., Schrage, Andrew J., Saccone, Nancy L., Madden, Pamela A., Degenhardt, Louisa, Martin, Nicholas G., and Montgomery, Grant W.
Published: 2013
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49. The International HapMap Project

Author: Gibbs, Richard A., Belmont, John W., Hardenbol, Paul, Willis, Thomas D., Yu, Fuli, Yang, Huanming, Ch'ang, Lan-Yang, Huang, Wei, Liu, Bin, Shen, Yan, Tam, Paul Kwong-Hang, Tsui, Lap-Chee, Waye, Mary Miu Yee, Wong, Jeffrey Tze-Fei, Zeng, Changqing, Zhang, Qingrun, Chee, Mark S., Galver, Luana M., Kruglyak, Semyon, Murray, Sarah S., Oliphant, Arnold R., Montpetit, Alexandre, Hudson, Thomas J., Chagnon, Fanny, Ferretti, Vincent, Leboeuf, Martin, Phillips, Michael S., Verner, Andrei, Kwok, Pui-Yan, Duan, Shenghui, Lind, Denise L., Miller, Raymond D., Rice, John P., Saccone, Nancy L., Taillon-Miller, Patricia, Xiao, Ming, Nakamura, Yusuke, Sekine, Akihiro, Sorimachi, Koki, Tanaka, Toshihiro, Tanaka, Yoichi, Tsunoda, Tatsuhiko, Yoshino, Eiji, Bentley, David R., Deloukas, Panos, Hunt, Sarah, Powell, Don, Altshuler, David, Gabriel, Stacey B., Zhang, Houcan, Matsuda, Ichiro, Fukushima, Yoshimitsu, Macer, Darryl R., Suda, Eiko, Rotimi, Charles N., Adebamowo, Clement A., Aniagwu, Toyin, Marshall, Patricia A., Matthew, Olayemi, Nkwodimmah, Chibuzor, Royal, Charmaine D. M., Leppert, Mark F., Dixon, Missy, Stein, Lincoln D., Cunningham, Fiona, Kanani, Ardavan, Thorisson, Gudmundur A., Chakravarti, Aravinda, Chen, Peter E., Cutler, David J., Kashuk, Carl S., Donnelly, Peter, Marchini, Jonathan, McVean, Gilean A. T., Myers, Simon R., Cardon, Lon R., Abecasis, Goncalo R., Morris, Andrew, Weir, Bruce S., Mullikin, James C., Sherry, Stephen T., Feolo, Michael, Daly, Mark J., Schaffner, Stephen F., Qiu, Renzong, Kent, Alastair, Dunston, Georgia M., Kato, Kazuto, Niikawa, Norio, Knoppers, Bartha M., Foster, Morris W., Clayton, Ellen Wright, Wang, Vivian Ota, Watkin, Jessica, Sodergren, Erica, Weinstock, George M., Wilson, Richard K., Fulton, Lucinda L., Rogers, Jane, Birren, Bruce W., Han, Hua, Wang, Hongguang, Godbout, Martin, Wallenburg, John C., L'Archeveque, Paul, Bellemare, Guy, Todani, Kazuo, Fujita, Takashi, Tanaka, Satoshi, Holden, Arthur L., Lai, Eric H., Collins, Francis S., Brooks, Lisa D., McEwen, Jean E., Guyer, Mark S., Jordan, Elke, Peterson, Jane L., Spiegel, Jack, Sung, Lawrence M., Zacharia, Lynn F., Kennedy, Karen, Dunn, Michael G., Seabrook, Richard, Shillito, Mark, Skene, Barbara, Stewart, John G., Cho, Mildred K., Duster, Troy, Jasperse, Marla, Licinio, Julio, Long, Jeffrey C., Ossorio, Pilar N., Spallone, Patricia, Terry, Sharon F., Boehnke, Michael, Douglas, Julie A., Hudson, Richard R., Kruglyak, Leonid, and Nussbaum, Robert L.
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): The International HapMap Consortium ; (Participants are arranged alphabetically by institution, and then by principal investigator and alphabetically by last name.); ; Genotyping centres: Baylor College of Medicine and [...]
Published: 2003
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50. Genetic Mapping of Complex Traits

Author: Saccone, Nancy L., primary
Published: 2010
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