Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group

作者：Sarah M. C. Colbert, Eric T. Monson, Ole A. Andreassen, Olatunde Ayinde, Peter B. Barr, Cosmin A. Bejan, Zuriel Ceja, Hilary Coon, Emily DiBlasi, Howard J. Edenberg, Joel Gelernter, Alexander S. Hatoum, A. O. Izotova, Emma C. Johnson, Erin A. Kaufman, Henry R. Kranzler, Maria Koromina, Kelli Lehto, Woojae Myung, John I. Nürnberger, Alessandro Serretti, Jordan W. Smoller, Murray B. Stein, Clement C. Zai, Annette Erlangsen, Marie E. Gaine, Lourdes Martorell, Reeteka Sud, Claudio Toma, Tim B. Bigdeli, Nathan A. Kimbrel, Douglas M. Ruderfer, Anna R. Docherty, J. John Mann, Niamh Mullins, Sarah M. C. Colbert, Olatunde Ayinde, Alexander S. Hatoum, Douglas M. Ruderfer, Mark Adams, Rolf Adolfsson, Ingrid Agartz, Esben Agerbo, Tracy Air, Martin Alda, Lars Alfredsson, Adebayo Anjorin, Vivek Appadurai, María Soler Artigas, Allison E. Ashley‐Koch, Swapnil Awasthi, M.H. Azevedo, Enrique Baca‐García, Amanda V. Bakian, Nicholas Bass, Claiton H.D. Bau, Bernhard T. Baune, Jean C. Beckham, Frank Bellivier, Andrew W. Bergen, Klaus Peter Berger, Wade H. Berrettini, Joanna M. Biernacka, Tim B. Bigdeli, Elisabeth B. Binder, Michael Boehnke, Martin Bohus, Marco P. Boks, Anders D. Børglum, Rosa Bosch, David Braff, Harry Brandt, Gerome Breen, Richard A. Bryant, Monika Budde, Cynthia M. Bulik, Enda M. Byrne, Wiepke Cahn, Adrián I. Campos, Miguel Casas, Enrique Castelao, Jorge A. Cervilla, Xiao Chang, Boris Chaumette, Hsi‐Chung Chen, Wei J. Chen, Erik D. Christensen, Sven Cichon, Jonathan R. I. Coleman, Aiden Corvin, Nicholas Craddock, David W. Craig, Steven M. Crawford, Scott J. Crow, Franziska Degenhardt, Ditte Demontis, Michelle F. Dennis, Srdjan Djurovic, Philibert Duriez, Alexis C. Edwards, Tõnu Esko, Giuseppe Nicolò Fanelli, Ayman H. Fanous, Fernando Fernández‐Aranda, Manfred M. Fichter, Jerome C. Foo, Andreas J. Forstner, Gabriel R. Fries, Mark A. Frye, Janice M. Fullerton, Hanga Galfalvy, Steven Gallinger, Michael J. Gandal, Melanie E. Garrett, Justine M. Gatt, Pablo V. Gejman, Ina Giegling, Stephen J. Glatt, Philip Gorwood, Hans J. Grabe, Melissa J. Green, Eugênio H. Grevet, Maria Grigoroiu‐Serbânescu, Yiran Guo, Blanca Gutiérrez, Alfonso Gutiérrez‐Zotes, José Guzmán‐Parra, Jonathan D. Hafferty, Lauren P. Hair, Håkon Håkonarson, Katherine A. Halmi, Steven P. Hamilton, Marian L. Hamshere, Annette M. Hartmann, Philip D. Harvey, Elizabeth R. Hauser, Michael A. Hauser, Joanna Hauser, Stefanie Heilmann‐Heimbach, Akitoyo Hishimoto, Per Hoffmann, David M. Hougaard, Jennifer E. Huffman, Hai‐Gwo Hwu, Marcus Ising, Daniel Jacobson, Sonia Jain, Stéphane Jamain, Min Ji, Susana Jiménez‐Múrcia, Craig Johnson, Ian Jones, Lisa Jones, Lina Jönsson, René S. Kahn, Jooeun Kang, Allan S. Kaplan, Walter H. Kaye, Pamela K. Keel, John R. Kelsoe, Kenneth S. Kendler, James L. Kennedy, Ronald C. Kessler, Minsoo Kim, Stefan Kloiber, Kelly L. Klump, Karestan C. Koenen, Manolis Kogevinas, Bettina Konte, Marie‐Odile Krebs, Po‐Hsiu Kuo, Mikael Landén, Séverine Lannoy, Jacob Lawrence, Marion Leboyer, Phil H. Lee, Daniel F. Levey, Douglas F. Levinson, Cathryn M. Lewis, Dong Li, Qingqin S. Li, Shih‐Cheng Liao, Calwing Liao, Klaus Lieb, Lisa Lilenfeld, Jennifer H. Lindquist, Jolanta Lissowska, Chih‐Min Liu, Adriana Lori, Susanne Lucae, Ravi Madduri, Pierre J. Magistretti, Christian R. Marshall, Nicholas G. Martin, Fermín Mayoral, Susan L. McElroy, Patrick J. McGrath, Peter McGuffin, Andrew M. McIntosh, Benjamin H. McMahon, Andrew McQuillin, Sarah E. Medland, Divya Mehta, Ingrid Melle, Yuri Milaneschi, James E. Mitchell, Philip B. Mitchell, Esther Molina, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bertram Müller‐Myhsok, Gerard Muntané, Balasz Murnyak, Richard M. Myers, Caroline M. Nievergelt, Vishwajit L. Nimgaonkar, Merete Nordentoft, Markus M. Nöthen, Michael O‘Donovan, Satoshi Okazaki, Catherine M. Olsen, Roel A. Ophoff, David W. Oslin, Ikuo Otsuka, Michael J. Owen, Sergi Papiol, Carlos N. Pato, Michele T. Pato, Brenda W.J.H. Penninx, Jonathan Pimm, Dalila Pinto, Giorgio Pistis, Renato Polimanti, David J. Porteous, James B. Potash, Robert A. Power, Abigail Powers, Martin Preisig, Xuejun Qin, Digby Quested, Josep Antoni Ramos‐Quiroga, Nicolas Ramoz, Andreas Reif, Miguel E. Rentería, Marta Ribasés, Vanesa Richarte, Marcella Rietschel, Stephan Ripke, Margarita Rivera, Andrea L. Roberts, Gloria Roberts, Stefan Roepke, Guy A. Rouleau, Diego Luiz Rovaris, Vsevolod Rozanov, Dan Rujescu, Vanessa Sánchez‐Gistau, Cristina Sánchez‐Mora, Alan R. Sanders, Chelsea Sawyers, Stephen W. Scherer, Christian Schmahl, Peter R. Schofield, Thomas G. Schulze, Laura J. Scott, Andrey A. Shabalin, Jianxin Shi, Stanley I. Shyn, Lea Sirignano, Pamela Sklar, Olav B. Smeland, Daniel J. Smıth, Marcus Sokolowski, Edmund Sonuga‐Barke, Gianfranco Spalletta, Eli A. Stahl, Anna Starnawska, Mallory Stephenson, John S. Strauss, Fabian Streit, Michael Strober, Mei-Hsin Su, Beata Świątkowska, Laura M. Thornton, Jodie Trafton, Janet Treasure, Maciej Trzaskowski, Ming T. Tsuang, Gustavo Turecki, Robert J. Ursano, Sandra Van der Auwera, Laura Vilar‐Ribó, Elisabet Vilella, John B. Vincent, Henry Völzke, Consuelo Walss‐Bass, James Walters, Erin B. Ware, Danuta Wasserman, Hunna J. Watson, Cynthia Shannon Weickert, Thomas W. Weickert, Myrna M. Weissman, Frank R. Wendt, Thomas Werge, David C. Whiteman, Leanne M. Williams, Virginia L. Willour, Stephanie H. Witt, D. Blake Woodside, Naomi R. Wray, Zeynep Yılmaz, Eric Zillich · 发表于：Molecular Psychiatry · 年份：2025 · DOI：10.1038/s41380-025-03271-y · 被引用次数：6 · 研究领域：Suicide and Self-Harm Studies、Genetic Neurodegenerative Diseases、Psychosomatic Disorders and Their Treatments

Suicidality phenotypes, consisting of suicidal ideation (SI), suicide attempt (SA), and suicide death (SD), are all heritable but present unique challenges in genome-wide association studies (GWAS) due to their individual complexity, overlap with each other and with related self-harm phenotypes, and varying associations with psychiatric disorders. GWAS have uncovered several loci associated with suicidality phenotypes by meta-analyzing data from multiple cohorts. However, combining datasets from many research groups, where each group may use different study designs, phenotyping instruments, and definitions of suicidality phenotypes, presents challenges. Heterogeneity resulting from these differences can limit genetic discovery; harmonizing phenotype definitions to ensure consistency will greatly improve results. Here, we describe a standardized phenotyping protocol that draws on the expertise of a subgroup of clinicians, researchers, and experts from the Psychiatric Genomics Consortium Suicide Working Group to propose consensus definitions for SI, SA, and SD for genetic studies.