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

Colbert, Sarah M. C., Monson, Eric T., Andreassen, Ole A., Ayinde, Olatunde O., Barr, Peter B., Bejan, Cosmin A., Ceja, Zuriel, Coon, Hilary, DiBlasi, Emily, Edenberg, Howard J., Gelernter, Joel, Hatoum, Alexander, Izotova, Anastasia, Johnson, Emma C., Kaufman, Erin A., Kranzler, Henry R., Koromina, Maria, Lehto, Kelli, Myung, Woojae, Nurnberger, John I., Serretti, Alessandro, Smoller, Jordan W., Stein, Murray B., Zai, Clement C., Erlangsen, Annette, Gaine, Marie, Martorell, Lourdes, Sud, Reeteka, Toma, Claudio, Bigdeli, Tim B., Kimbrel, Nathan A., Ruderfer, Douglas, Docherty, Anna R., Mann, J. John, Mullins, Niamh, undefined, undefined, Colbert, Sarah MC, Ayinde, Olatunde, Hatoum, Alexander S., Ruderfer, Douglas M., Adams, Mark, Adolfsson, Rolf, Agartz, Ingrid, Agerbo, Esben, Air, Tracy M., Alda, Martin, Alfredsson, Lars, Anjorin, Adebayo, Appadurai, Vivek, Artigas, María Soler, Ashley-Koch, Allison E., Awasthi, Swapnil, Azevedo, M. Helena, García, Enrique Baca, Bakian, Amanda, Bass, Nicholas, Bau, Claiton HD, Baune, Bernhard T., Beckham, Jean C., Bellivier, Frank, Bergen, Andrew W., Berger, Klaus, Berrettini, Wade H., Biernacka, Joanna M., Bigdeli, Tim B., Binder, Elisabeth B., Boehnke, Michael, Bohus, Martin, Boks, Marco P., Børglum, Anders D., Bosch, Rosa, Braff, David L., Brandt, Harry, Breen, Gerome, Bryant, Richard, Budde, Monika, Bulik, Cynthia M., Byrne, Enda M., Cahn, Wiepke, Campos, Adrian I., Casas, Miguel, Castelao, Enrique, Cervilla, Jorge A., Chang, Xiao, Chaumette, Boris, Chen, Hsi-Chung, Chen, Wei J., Christensen, Erik D., Cichon, Sven, Coleman, Jonathan R. I., Corvin, Aiden, Craddock, Nicholas ORCID: https://orcid.org/0000-0003-2171-0610, Craig, David, Crawford, Steven, Crow, Scott, Degenhardt, Franziska, Demontis, Ditte, Dennis, Michelle, Djurovic, Srdjan, Duriez, Philibert, Edwards, Alexis, Esko, Tõnu, Fanelli, Giuseppe, Fanous, Ayman H., Fernández-Aranda, Fernando, Fichter, Manfred M., Foo, Jerome C., Forstner, Andreas J., Fries, Gabriel R., Frye, Mark, Fullerton, Janice M., Galfalvy, Hanga, Gallinger, Steven, Gandal, Michael, Garrett, Melanie, Gatt, Justine M., Gejman, Pablo V., Giegling, Ina, Glatt, Stephen J., Gorwood, Philip, Grabe, Hans J., Green, Melissa J., Grevet, Eugenio H., Grigoroiu-Serbanescu, Maria, Guo, Yiran, Gutierrez, Blanca, Gutierrez-Zotes, Alfonso, Guzman-Parra, Jose, Hafferty, Jonathan D., Hair, Lauren, Hakonarson, Hakon, Halmi, Katherine A., Hamilton, Steven P., Hamshere, Marian L. ORCID: https://orcid.org/0000-0002-8990-0958, Hartmann, Annette M., Harvey, Philip, Hauser, Elizabeth R., Hauser, Michael A., Hauser, Joanna, Heilmann-Heimbach, Stefanie, Hishimoto, Akitoyo, Hoffmann, Per, Hougaard, David M., Huffman, Jennifer, Hwu, Hai-Gwo, Ising, Marcus, Jacobson, Daniel, Jain, Sonia, Jamain, Stéphane, Ji, Min, Jiménez-Murcia, Susana, Johnson, Craig, Jones, Ian ORCID: https://orcid.org/0000-0001-5821-5889, Jones, Lisa A., Jonsson, Lina, Kahn, René S., Kang, JooEun, Kaplan, Allan S., Kaye, Walter H., Keel, Pamela K., Kelsoe, John R., Kendler, Kenneth S., Kennedy, James L., Kessler, Ronald C., Kim, Minsoo, Kloiber, Stefan, Klump, Kelly L., Koenen, Karestan C., Kogevinas, Manolis, Konte, Bettina, Krebs, Marie-Odile, Kuo, Po-Hsiu, Landén, Mikael, Lannoy, Séverine, Lawrence, Jacob, Leboyer, Marion, Lee, Phil H., Levey, Daniel F., Levinson, Douglas F., Lewis, Cathryn M., Li, Dong, Li, Qingqin S., Liao, Shih-Cheng, Liao, Calwing, Lieb, Klaus, Lilenfeld, Lisa, Lindquist, Jennifer H., Lissowska, Jolanta, Liu, Chih-Min, Lori, Adriana, Lucae, Susanne, Madduri, Ravi, Magistretti, Pierre J., Marshall, Christian R., Martin, Nicholas G., Mayoral, Fermin, McElroy, Susan L., McGrath, Patrick, McGuffin, Peter, McIntosh, Andrew M., McMahon, Benjamin, McQuillin, Andrew, Medland, Sarah E., Mehta, Divya, Melle, Ingrid, Milaneschi, Yuri, Mitchell, James E., Mitchell, Philip B., Molina, Esther, Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Muntané, Gerard, Murnyak, Balasz, Myers, Richard M., Nievergelt, Caroline, Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379, Okazaki, Satoshi, Olsen, Catherine M., Ophoff, Roel A., Oslin, David W., Otsuka, Ikuo, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Papiol, Sergi, Pato, Carlos, Pato, Michele T., Penninx, Brenda WJH, Pimm, Jonathan, Pinto, Dalila, Pistis, Giorgio, Polimanti, Renato, Porteous, David, Potash, James B., Power, Robert A., Powers, Abigail, Preisig, Martin, Qin, Xuejun, Quested, Digby, Ramos-Quiroga, Josep Antoni, Ramoz, Nicolas, Reif, Andreas, Rentería, Miguel E., Ribasés, Marta, Richarte, Vanesa, Rietschel, Marcella, Ripke, Stephan, Rivera, Margarita, Roberts, Andrea, Roberts, Gloria, Roepke, Stefan, Rouleau, Guy A., Rovaris, Diego L., Rozanov, Vsevolod, Rujescu, Dan, Sànchez-Gistau, Vanessa, Sánchez-Mora, Cristina, Sanders, Alan R., Sawyers, Chelsea, Scherer, Stephen W., Schmahl, Christian, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Shabalin, Andrey, Shi, Jianxin, Shyn, Stanley I., Sirignano, Lea, Sklar, Pamela, Smeland, Olav B., Smith, Daniel J., Sokolowski, Marcus, Sonuga-Barke, Edmund J. S., Spalletta, Gianfranco, Stahl, Eli A., Starnawska, Anna, Stephenson, Mallory, Strauss, John S., Streit, Fabian, Strober, Michael, Su, Mei-Hsin, Świątkowska, Beata, Thornton, Laura M., Trafton, Jodie, Treasure, Janet, Trzaskowski, Maciej, Tsuang, Ming T., Turecki, Gustavo, Ursano, Robert J., Van der Auwera, Sandra, Vilar-Ribó, Laura, Vilella, Elisabet, Vincent, John B., Völzke, Henry, Walss-Bass, Consuelo, Walters, James TR ORCID: https://orcid.org/0000-0002-6980-4053, Ware, Erin B., Wasserman, Danuta, Watson, Hunna J., Weickert, Cynthia Shannon, Weickert, Thomas W., Weissman, Myrna M., Wendt, Frank, Werge, Thomas, Whiteman, David C., Williams, Leanne M., Willour, Virginia, Witt, Stephanie H., Woodside, D. Blake, Wray, Naomi R., Yilmaz, Zeynep and Zillich, Lea 2025. Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group. Molecular Psychiatry 30 , pp. 6144-6154. 10.1038/s41380-025-03271-y

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Schools > Medicine
Publisher: Springer Nature [academic journals on nature.com]
ISSN: 1359-4184
Date of First Compliant Deposit: 13 January 2026
Date of Acceptance: 11 September 2025
Last Modified: 13 Jan 2026 16:32
URI: https://orca.cardiff.ac.uk/id/eprint/183876

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