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Cross-cultural validation and measurement invariance of anxiety and depression symptoms: A study of the Brief Symptom Inventory (BSI) in 42 countries

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Journal of affective disorders 2024年 350卷 991-1006页

作者： Gonzalo R Quintana Fernando P Ponce Javier I Escudero-Pastén Juan F Santibáñez-Palma Léna Nagy Mónika Koós Shane W Kraus Zsolt Demetrovics Marc N Potenza Rafael Ballester-Arnal Dominik Batthyány Sophie Bergeron Joël Billieux Peer Briken Julius Burkauskas Georgina Cárdenas-López Joana Carvalho Jesús Castro-Calvo Lijun Chen Giacomo Ciocca Ornella Corazza Rita I Csako David P Fernandez Elaine F Fernandez Hironobu Fujiwara Johannes Fuss Roman Gabrhelík Ateret Gewirtz-Meydan Biljana Gjoneska Mateusz Gola Joshua B Grubbs Hashim T Hashim Md Saiful Islam Mustafa Ismail Martha C Jiménez-Martínez Tanja Jurin Ondrej Kalina Verena Klein András Költő Chih-Ting Lee Sang-Kyu Lee Karol Lewczuk Chung-Ying Lin Christine Lochner Silvia López-Alvarado Kateřina Lukavská Percy Mayta-Tristán Dan J Miller Oľga Orosová Gábor Orosz Gabriel C Quintero Garzola Jano Ramos-Diaz Kévin Rigaud Ann Rousseau Marco De Tubino Scanavino Marion K Schulmeyer Pratap Sharan Mami Shibata Sheikh Shoib Vera Sigre-Leirós Luke Sniewski Ognen Spasovski Vesta Steibliene Dan J Stein Berk C Ünsal Marie-Pier Vaillancourt-Morel Marie Claire Van Hout Beáta Bőthe Departamento de Psicología y Filosofía Facultad de Ciencias Sociales Universidad de Tarapacá Arica Arica y Parinacota Chile. Electronic address: gquintanaz@academicos.uta.cl. Facultad de Psicología Universidad de Talca Chile. Departamento de Psicología y Filosofía Facultad de Ciencias Sociales Universidad de Tarapacá Arica Arica y Parinacota Chile. Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary. Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary. Department of Psychology University of Nevada Las Vegas Las Vegas NV USA. Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar. Yale University School of Medicine New Haven CT USA Connecticut Council on Problem Gambling Wethersfield CT USA. Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain. Institute for Behavioural Addictions Sigmund Freud University Vienna Austria. Département de psychologie Université de Montréal Montréal Canada. Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland. Institute for Sex Research Sexual Medicine and Forensic Psychiatry University Medical Centre Hamburg-Eppendorf Hamburg Germany. Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Palanga Lithuania. Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico. William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro Aveiro Portugal. Department of Personality Assessment and Psychological Treatments University of Valencia Spain. Department of Psychology College of Humanity and Social Science Fuz

BACKGROUND:Depression and anxiety are among the most prevalent mental health issues experienced worldwide. However, whereas cross-cultural studies utilize psychometrically valid and reliable scales, fewer can meaningfully compare these conditions across different groups. To address this gap, the current study aimed to psychometrically assess the Brief Symptomatology Index (BSI) in 42 countries. METHODS:Using data from the International Sex Survey (N = 82,243; M = 32.39; SD = 12.52; women: n = 46,874; 57 %), we examined the reliability of depression and anxiety symptom scores of the BSI-18, as well as evaluated evidence of construct, invariance, and criterion-related validity in predicting clinically relevant variables across countries, languages, genders, and sexual orientations. RESULTS:Results corroborated an invariant, two-factor structure across all groups tested, exhibiting excellent reliability estimates for both subscales. The 'caseness' criterion effectively discriminated among those at low and high risk of depression and anxiety, yielding differential effects on the clinical criteria examined. LIMITATIONS:The predictive validation was not made against a clinical diagnosis, and the full BSI-18 scale was not examined (excluding the somatization sub-dimension), limiting the validation scope of the BSI-18. Finally, the study was conducted online, mainly by advertisements through social media, ultimately skewing our sample towards women, younger, and highly educated populations. CONCLUSIONS:The results support that the BSI-12 is a valid and reliable assessment tool for assessing depression and anxiety symptoms across countries, languages, genders, and sexual orientations. Further, its caseness criterion can discriminate well between participants at high and low risk of depression and anxiety.

关键词： Anxiety Brief Symptom Inventory Cross-cultural Depression Measurement invariance Psychometric

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Author Correction: High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer

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Nature communications 2022年第1期13卷 6928页

作者： Marta Palafox Laia Monserrat Meritxell Bellet Guillermo Villacampa Abel Gonzalez-Perez Mafalda Oliveira Fara Brasó-Maristany Nusaibah Ibrahimi Srinivasaraghavan Kannan Leonardo Mina Maria Teresa Herrera-Abreu Andreu Òdena Mònica Sánchez-Guixé Marta Capelán Analía Azaro Alejandra Bruna Olga Rodríguez Marta Guzmán Judit Grueso Cristina Viaplana Javier Hernández Faye Su Kui Lin Robert B Clarke Carlos Caldas Joaquín Arribas Stefan Michiels Alicia García-Sanz Nicholas C Turner Aleix Prat Paolo Nuciforo Rodrigo Dienstmann Chandra S Verma Nuria Lopez-Bigas Maurizio Scaltriti Monica Arnedos Cristina Saura Violeta Serra Experimental Therapeutics Group Vall d'Hebron Institute of Oncology Barcelona Spain. Breast Cancer and Melanoma Group Vall d'Hebron Institute of Oncology Barcelona Spain. Department of Medical Oncology Hospital Vall d'Hebron Barcelona Spain. Oncology Data Science Group Vall d'Hebron Institute of Oncology Barcelona Spain. Institute for Research in Biomedicine (IRB Barcelona) Barcelona Spain. Research Program on Biomedical Informatics Universitat Pompeu Fabra Barcelona Spain. Translational Genomics and Targeted Therapies in Solid Tumors August Pi i Sunyer Biomedical Research Institute (IDIBAPS) Barcelona Spain. Service de Biostatistique et d'Epidémiologie Gustave Roussy Villejuif France. Oncostat U1018 Inserm University Paris-Saclay Villejuif France. Bioinformatics Institute (A*STAR) Singapore Singapore. Medica Scientia Innovation Research (MedSIR) Barcelona Spain. The Breast Cancer Now Research Centre London UK. Preclinical Modelling of Pediatric Cancer Evolution Group The Institute of Cancer Research London UK. Translational Molecular Pathology Vall d'Hebron Institute of Research (VHIR) Barcelona Spain. Novartis Pharmaceuticals East Hanover NJ USA. Genentech Inc. South San Francisco California USA. Breast Biology Group Manchester Breast Centre Manchester UK. Cancer Research UK Cambridge UK. CIBERONC Vall d'Hebron Institute of Oncology Barcelona Spain. Growth Factors Laboratory Vall d'Hebron Institute of Oncology Barcelona Spain. Department of Biochemistry and Molecular Biology Universitat Autònoma de Barcelona Barcelona Spain. IMIM (Hospital del Mar Medical Research Institute) Barcelona Spain. Institució Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. University of Barcelona Barcelona Spain. Department of Medical Oncology Hospital Clinic Barcelona Spain. SOLTI Breast Cancer Research Group Barcelona Spain. Department of Oncology IOB Institute of Oncology Barcelona Spain. Molecular Oncology Group Vall d'Hebron Institute of On

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2022年第5期30卷 630-631页

作者： Dareng, Eileen O. Tyrer, Jonathan P. Barnes, Daniel R. Jones, Michelle R. Yang, Xin Aben, Katja K. H. Adank, Muriel A. Agata, Simona Andrulis, Irene L. Anton-Culver, Hoda Antonenkova, Natalia N. Aravantinos, Gerasimos Arun, Banu K. Augustinsson, Annelie Balmana, Judith Bandera, Elisa V. Barkardottir, Rosa B. Barrowdale, Daniel Beckmann, Matthias W. Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina Bernardini, Marcus Q. Bjorge, Line Black, Amanda Bogdanova, Natalia V. Bonanni, Bernardo Borg, Ake Brenton, James D. Budzilowska, Agnieszka Butzow, Ralf Buys, Saundra S. Cai, Hui Caligo, Maria A. Campbell, Ian Cannioto, Rikki Cassingham, Hayley Chang-Claude, Jenny Chanock, Stephen J. Chen, Kexin Chiew, Yoke-Eng Chung, Wendy K. Claes, Kathleen B. M. Colonna, Sarah Cook, Linda S. Couch, Fergus J. Daly, Mary B. Dao, Fanny Davies, Eleanor de la Hoya, Miguel de Putter, Robin Dennis, Joe DePersia, Allison Devilee, Peter Diez, Orland Ding, Yuan Chun Doherty, Jennifer A. Domchek, Susan M. Dork, Thilo du Bois, Andreas Durst, Matthias Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Evans, Gareth D. Fasching, Peter A. Flanagan, James M. Fortner, Renee T. Machackova, Eva Friedman, Eitan Ganz, Patricia A. Garber, Judy Gensini, Francesca Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goodman, Marc T. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute Hansen, Thomas V. O. Harris, Holly R. Hartman, Mikael Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Hopper, John L. Huang, Ruea-Yea Huff, Chad Hulick, Peter J. Huntsman, David G. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jensen, Allan Johannsson, Oskar Th. John, Esther M. Jones, Michael E. Kang, Daehee Karlan, Beth Y. Karnezis, Anthony Kelemen, Linda E. Khusnutdinova, Elza Kiemeney, Lambertus A. Kim, Byoung-Gie Kjaer, Susanne K. Komenaka, Ian Kupryjanczyk, Jolanta Kurian, Allison W. Kwong, Ava Lambrechts, Diether Larson, Melissa C. Lazaro, Conxi L University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands The Netherlands Cancer Institute—Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands Veneto Institute of Oncology IOV—IRCCS Immunology and Molecular Oncology Unit Padua Italy Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada University of Toronto Department of Molecular Genetics Toronto ON Canada University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus ‘Agii Anargiri’ Cancer Hospital Athens Greece University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden Vall d’Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain University Hospital of Vall d’Hebron Department of Medical Oncology Barcelona Spain Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA Landspitali University Hospital Department of Pathology Reykjavik Iceland University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany Vanderbilt University School of Medicine Division of Epidemiology Department

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

关键词： Clinical genetics Genetic markers Risk factors Biomedicine general Human Genetics Bioinformatics Gene Expression Cytogenetics

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Publisher Correction: Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020

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Eye (London, England) 2024年第11期38卷 2229-2231页

作者： Konrad Pesudovs Hugh R. Taylor Tabassom Sedighi Rupert R. A. Bourne Shahina Pardhan Van Charles Lansingh John H. Kempen Ian Tapply Arthur G. Fernandes Maria Vittoria Cicinelli Alessandro Arrigo Nicolas Leveziel Serge Resnikoff Seth Flaxman Mukkharram M. Bikbov Tasanee Braithwaite Alain Bron Ching-Yu Cheng Monte A. Del Monte Joshua R. Ehrlich Leon B. Ellwein David Friedman João M. Furtado Gus Gazzard Ronnie George M. Elizabeth Hartnett Jost B. Jonas Rim Kahloun Moncef Khairallah Rohit C. Khanna Janet Leasher Julie-Anne Little Vinay Nangia Michal Nowak Tunde Peto Pradeep Ramulu Fotis Topouzis Mitiadis Tsilimbaris Ya Xing Wang Ningli Wang Paul Svitil Briant Theo Vos Katrin Burkart Kaleb Coberly Xiaochen Dai Stephen S. Lim Tomislav Mestrovic Ali H. Mokdad Christopher J. L. Murray Jaimie D. Steinmetz Awoke Misganaw Yohannes Habtegiorgis Abate Mohammad Abdollahi Mozhan Abdollahi Ayele Mamo Abebe Olumide Abiodun Richard Gyan Aboagye Woldu Aberhe Abrha Hasan Abualruz Hiwa Abubaker Ali Eman Abu-Gharbieh Salahdein Aburuz Tadele Girum Girum Adal Mesafint Molla Adane Isaac Yeboah Addo Qorinah Estiningtyas Sakilah Adnani Muhammad Sohail Afzal Muhammad Umair Shahin Aghamiri Bright Opoku Ahinkorah Aqeel Ahmad Sajjad Ahmad Ali Ahmadi Siamak Sabour Ayman Ahmed Haroon Ahmed Ahmad Samir Alfaar Abid Ali Syed Shujait Shujait Ali Awais Altaf Hubert Amu Emmanuel Manu Sofia Androudi Rodrigo Anguita Abhishek Anil Rimple Jeet Kaur Muhammad Aaqib Shamim Saeid Anvari Anayochukwu Edward Anyasodor Francis Appiah Jalal Arabloo Haleh Ayatollahi Mosab Arafat Damelash Areda Reza Arefnezhad Brhane Berhe Aregawi Akeza Awealom Asgedom Tahira Ashraf Seyyed Shamsadin Athari Bantalem Tilaye Tilaye Atinafu Birhan Tsegaw Taye Maha Moh’d Wahbi Atout Alok Atreya Ahmed Y. Azzam Hassan Babamohamadi Sara Bagherieh Yogesh Bahurupi Atif Amin Baig Shumaila Nargus Biswajit Banik Mainak Bardhan Saurav Basu Kavita Batra Nebiyou Simegnew Bayileyegn Fatemeh Bazvand Addisu Shunu Beyene Awoke Masrie Asrat Derese Devidas S. Bhagat Akshaya Srikanth Bhagavathula Pankaj Bh Medicine & Health University of New South Wales Sydney NSW Australia School of Optometry and Vision Science University of New South Wales Sydney NSW Australia School of Population and Global Health University of Melbourne Carlton VIC Australia Vision and Eye Research Institute Anglia Ruskin University Cambridge UK HelpMeSee Instituto Mexicano de Oftalmologia Santiago de Querétaro Mexico University of Miami Gables FL USA University of Utah Salt Lake City UT USA Chief Medical Office HelpMeSee New York NY USA Mexican Institute of Ophthalmology Queretaro Mexico Department of Ophthalmology Massachusetts Eye and Ear/Shepens Eye Research Institute/Harvard Medical School Boston MA USA Eye Unit MyungSung Christian Medical Center (MCM) Comprehensive Specialized Hospital and MyungSun Medical College Addis Ababa Ethiopia Department of Ophthalmology Addis Ababa University Addis Ababa Ethiopia Sight for Souls Bellevue WA USA Department of Ophthalmology Harvard University Boston MA USA Eye Unit MyungSung Medical College Addis Ababa Ethiopia Addenbrooke’s Hospital Cambridge UK Department of Ophthalmology Cambridge University Hospitals Cambridge UK Federal University of Sao Paolo Sao Paolo SP Brazil University of Calgary Calgary AB Canada Department of Ophthalmology and Visual Sciences Federal University of São Paulo Sao Paulo Brazil School of Medicine Vita-Salute San Raffaele University Milan Italy Department of Ophthalmology IRCCS San Raffaele Scientific Institute Milan Italy Department of Ophthalmology San Raffaele Scientific Institute Milano Italy IRCCS San Raffaele Scientific Institute Vita-Salute University Milan Italy Scientific Institute San Raffaele Hospital Vita-Salute University Milan Italy University of Poitiers Poitiers France CHU de Poitiers Poitiers France Ophthalmology Department CHU de Poitiers (Poitiers University Hospital) Poitiers France Unité 1084 National Institute of Health and Medical Research (INSERM) Poitiers France

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The short version of the Sexual Distress Scale (SDS-3): Measurement invariance across countries, gender identities, and sexual orientations

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International Journal of Clinical and Health Psychology 2024年第2期24卷 100461-100461页

作者： Lin, Chung-Ying Tsai, Meng-Che Koós, Mónika Nagy, Léna Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Briken, Peer Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita I. Fernandez, David P. Fernandez, Elaine F. Fujiwara, Hironobu Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Milea, Ion Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Garzola, Gabriel C. Quintero Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Štulhofer, Aleksandar Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Institute of Allied Health Sciences College of Medicine National Cheng Kung University Tainan Taiwan Biostatistics Consulting Center National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Department of Pediatrics National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar United Kingdom College of Education Psychology and Social Work Flinders University Adelaide Australia Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departamento de Psicología Básica Clínica y Psicobiología University Jaume I Castelló Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Centre de recherche interdisciplinaire sur les problèmes conjugaux et les agressions sexuelles Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Institute for Sex Research Sexual Medicine & Forensic Psychiatry University Medical Center Hamburg-Eppendorf (UKE) Hamburg Germany Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico Mexico William James Center for Research Department of Education and Psychology University of Aveiro Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University

Background: The three-item Sexual Distress Scale (SDS-3) has been frequently used to assess distress related to sexuality in public health surveys and research on sexual wellbeing. However, its psychometric properties and measurement invariance across cultural, gender and sexual subgroups have not yet been examined. This multinational study aimed to validate the SDS-3 and test its psychometric properties, including measurement invariance across language, country, gender identity, and sexual orientation groups. Methods: We used global survey data from 82,243 individuals (Mean _age=32.39 years;40.3 % men, 57.0 % women, 2.8 % non-binary, and 0.6 % other genders) participating in the International Sexual Survey (ISS;https://***/) across 42 countries and 26 languages. Participants completed the SDS-3, as well as questions regarding sociodemographic characteristics, including gender identity and sexual orientation. Results: Confirmatory factor analysis (CFA) supported a unidimensional factor structure for the SDS-3, and multi-group CFA (MGCFA) suggested that this factor structure was invariant across countries, languages, gender identities, and sexual orientations. Cronbach's α for the unidimensional score was 0.83 (range between 0.76 and 0.89), and McDonald's ω was 0.84 (range between 0.76 and 0.90). Participants who did not experience sexual problems had significantly lower SDS-3 total scores (M = 2.99;SD=2.54) compared to those who reported sexual problems (M = 5.60;SD=3.00), with a large effect size (Cohen's d = 1.01 [95 % CI=-1.03, -0.98];p < 0.001). Conclusion: The SDS-3 has a unidimensional factor structure and appears to be valid and reliable for measuring sexual distress among individuals from different countries, gender identities, and sexual orientations. © 2024 The Author(s)

关键词： Confirmatory factor analysis (CFA) International sex survey Psychometric analysis Sexual distress

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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science 2020年第6523期370卷 000-000页

作者： Warren, Wesley C. Harris, R. Alan Haukness, Marina Fiddes, Ian T. Murali, Shwetha C. Fernandes, Jason Dishuck, Philip C. Storer, Jessica M. Raveendran, Muthuswamy Hillier, LaDeana W. Porubsky, David Mao, Yafei Gordon, David Vollger, Mitchell R. Lewis, Alexandra P. Munson, Katherine M. DeVogelaere, Elizabeth Armstrong, Joel Diekhans, Mark Walker, Jerilyn A. Tomlinson, Chad Graves-Lindsay, Tina A. Kremitzki, Milinn Salama, Sofie R. Audano, Peter A. Escalona, Merly Maurer, Nicholas W. Antonacci, Francesca Mercuri, Ludovica Maggiolini, Flavia A. M. Catacchio, Claudia Rita Underwood, Jason G. O'Connor, David H. Sanders, Ashley D. Korbel, Jan O. Ferguson, Betsy Kubisch, H. Michael Picker, Louis Kalin, Ned H. Rosene, Douglas Levine, Jon Abbott, David H. Gray, Stanton B. Sanchez, Mar M. Kovacs-Balint, Zsofia A. Kemnitz, Joseph W. Thomasy, Sara M. Roberts, Jeffrey A. Kinnally, Erin L. Capitanio, John P. Skene, J. H. Pate Platt, Michael Cole, Shelley A. Green, Richard E. Ventura, Mario Wiseman, Roger W. Paten, Benedict Batzer, Mark A. Rogers, Jeffrey Eichler, Evan E. Department of Animal Sciences Bond Life Sciences Center University of Missouri Columbia MO 65211 USA. Department of Surgery School of Medicine University of Missouri Columbia MO 65211 USA. Institute of Data Science and Informatics University of Missouri Columbia MO 65211 USA. Human Genome Sequencing Center Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Computational Genomics Laboratory University of California-Santa Cruz Santa Cruz CA 95064 USA. Inscripta Inc. Boulder CO 80301 USA. Department of Genome Sciences University of Washington Seattle WA 98195 USA. Howard Hughes Medical Institute University of Washington Seattle WA 98195 USA. Department of Biomolecular Engineering University of California-Santa Cruz Santa Cruz CA 95064 USA. Department of Biological Sciences Louisiana State University Baton Rouge LA 70803 USA. Institue for Systems Biology Seattle WA 98109 USA. McDonnell Genome Institute Washington University St. Louis MO 63108 USA. Department of Biology University of Bari ’Aldo Moro’ 70125 Bari Italy. Pacific Biosciences of California Seattle WA 94025 USA. Department of Pathology and Laboratory Medicine Wisconsin National Primate Research Center University of Wisconsin-Madison Madison WI 53711 USA. European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany. Division of Genetics Oregon National Primate Research Center Oregon Health and Science University Beaverton OR 97006 USA. Tulane National Primate Research Center Covington LA 70433 USA. Oregon National Primate Research Center and Vaccine and Gene Therapy Institute Oregon Health Sciences University Beaverton OR 97006 USA. Department of Psychiatry University of Wisconsin School of Medicine and Public Health Madison WI 53719 USA. Department of Anatomy and Neurobiology Boston University School of Medicine Boston MA 02118 USA. Department of Neuroscience University of Wisconsin Madison WI 53175 USA. Wisconsin N

The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

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Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight

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Nature genetics 2023年第7期55卷 1250页

作者： Pol Solé-Navais Christopher Flatley Valgerdur Steinthorsdottir Marc Vaudel Julius Juodakis Jing Chen Triin Laisk Abigail L LaBella David Westergaard Jonas Bacelis Ben Brumpton Line Skotte Maria C Borges Øyvind Helgeland Anubha Mahajan Matthias Wielscher Frederick Lin Catherine Briggs Carol A Wang Gunn-Helen Moen Robin N Beaumont Jonathan P Bradfield Abin Abraham Gudmar Thorleifsson Maiken E Gabrielsen Sisse R Ostrowski Dominika Modzelewska Ellen A Nohr Elina Hypponen Amit Srivastava Octavious Talbot Catherine Allard Scott M Williams Ramkumar Menon Beverley M Shields Gardar Sveinbjornsson Huan Xu Mads Melbye William Lowe Luigi Bouchard Emily Oken Ole B Pedersen Daniel F Gudbjartsson Christian Erikstrup Erik Sørensen Rolv T Lie Kari Teramo Mikko Hallman Thorhildur Juliusdottir Hakon Hakonarson Henrik Ullum Andrew T Hattersley Line Sletner Mario Merialdi Sheryl L Rifas-Shiman Thora Steingrimsdottir Denise Scholtens Christine Power Jane West Mette Nyegaard John A Capra Anne H Skogholt Per Magnus Ole A Andreassen Unnur Thorsteinsdottir Struan F A Grant Elisabeth Qvigstad Craig E Pennell Marie-France Hivert Geoffrey M Hayes Marjo-Riitta Jarvelin Mark I McCarthy Deborah A Lawlor Henriette S Nielsen Reedik Mägi Antonis Rokas Kristian Hveem Kari Stefansson Bjarke Feenstra Pål Njolstad Louis J Muglia Rachel M Freathy Stefan Johansson Ge Zhang Bo Jacobsson Department of Obstetrics and Gynaecology Sahlgrenska Academy Institute of Clinical Science University of Gothenburg Gothenburg Sweden. pol.sole.navais@gu.se. Department of Obstetrics and Gynaecology Sahlgrenska Academy Institute of Clinical Science University of Gothenburg Gothenburg Sweden. deCODE genetics/Amgen Reykjavik Iceland. Center for Diabetes Research Department of Clinical Science University of Bergen Bergen Norway. Division of Biomedical Informatics Cincinnati Children's Hospital Medical Center Cincinnati OH USA. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA. Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia. Department of Biological Sciences Vanderbilt University Nashville TN USA. Novo Nordisk Foundation Center for Protein Research University of Copenhagen Copenhagen Denmark. Department of Obstetrics and Gynaecology Copenhagen University Hospital Hvidovre Hvidovre Denmark. Methods and Analysis Statistics Denmark Copenhagen Denmark. K.G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Norwegian University of Science and Technology Trondheim Norway. Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark. MRC Integrative Epidemiology Unit University of Bristol Bristol UK. Population Health Sciences Bristol Medical School University of Bristol Bristol UK. Department of Genetics and Bioinformatics Health Data and Digitalization Norwegian Institute of Public Health Oslo Norway. Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK. Genentech South San Francisco CA USA. Department of Epidemiology and Biostatistics MRC-PHE Centre for Environment and Health School of Public Health Imperial College London London UK. Department of Dermatology Medical University of Vienna Vienna Austria. Northwestern University Feinberg School of Medicine Chicago IL USA. Department of Population Medicine Harvard M

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Changing life expectancy in European countries 1990–2021: a subanalysis of causes and risk factors from the Global Burden of Disease Study 2021

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The Lancet Public Health 2025年第3期10卷 e172-e188页

作者： Steel, Nicholas Bauer-Staeb, Clarissa Maria Mercedes Ford, John A. Abbafati, Cristiana Abdalla, Mohammed Altigani Abdelkader, Atef Abdi, Parsa Zuñiga, Roberto Ariel Abeldaño Abiodun, Olugbenga Olusola Abolhassani, Hassan Abu-Gharbieh, Eman Abukhadijah, Hana J. Abu-Zaid, Ahmed Addo, Isaac Yeboah Addolorato, Giovanni Adekanmbi, Victor Adetunji, Juliana Bunmi Adeyeoluwa, Temitayo Esther Agardh, Emilie E. Agyemang-Duah, Williams Ahmad, Danish Ahmed, Ayman Ahmed, Syed Anees Akinosoglou, Karolina Akkaif, Mohammed Ahmed Al Awaidy, Salah Al Hasan, Syed Mahfuz Al Zaabi, Omar Ali Mohammed Aldridge, Robert W. Algammal, Abdelazeem M. Al-Gheethi, Adel Ali Saeed Ali, Abid Ali, Mohammed Usman Ali, Syed Shujait Ali, Waad Alicandro, Gianfranco Alif, Sheikh Mohammad Al-Jumaily, Adel Allebeck, Peter Alrawashdeh, Ahmad Al-Rifai, Rami H. Alsabri, Mohammed A. Alshahrani, Najim Z. Aluh, Deborah Oyine Al-Wardat, Mohammad Al-Zyoud, Walid A. Amiri, Sohrab Anderlini, Deanna Andrei, Catalina Liliana Anil, Abhishek Anvari, Saeid Anyasodor, Anayochukwu Edward Appiah, Seth Christopher Yaw Aquilano, Michele Arabloo, Jalal Arafat, Mosab Areda, Demelash Aremu, Abdulfatai Armani, Keivan Armocida, Benedetta Ärnlöv, Johan Asaduzzaman, Muhammad Astell-Burt, Thomas Aujayeb, Avinash Ausloos, Marcel Azadnajafabad, Sina Aziz, Shahkaar Azzam, Ahmed Y. Babu, Giridhara Rathnaiah Badache, Andreea Corina Badiye, Ashish D. Bahramian, Saeed Baig, Atif Amin Baker, Jennifer L. Bansal, Hansi Bärnighausen, Till Winfried Barone, Mark Thomaz Ugliara Barrow, Amadou Barteit, Sandra Bashir, Shahid Bashiru, Hameed Akande Basso, João Diogo Bastan, Mohammad-Mahdi Basu, Sanjay Batra, Kavita Bauckneht, Matteo Baune, Bernhard T. Beghi, Massimiliano Beiranvand, Maryam Béjot, Yannick Bell, Michelle L. Bello, Olorunjuwon Omolaja Belo, Luis Beloukas, Apostolos Beneke, Alice A. Bettencourt, Paulo J.G. Bhagavathula, Akshaya Srikanth Bhala, Neeraj Bhaskar, Sonu Bisulli, Francesca Bjørge, Tone Bodunrin, Aadam Olalekan Carvajal, Alejandro Botero Bouaoud, Souad Brayne, Carol Brenner, H Department of Primary Care and Public Health University of East Anglia Norwich United Kingdom Office for Health Improvement and Disparities Department of Health and Social Care London United Kingdom Department of Legal and Economic Studies La Sapienza University Rome Italy Rome Italy Hull York Medical School University of Hull Hull United Kingdom Department of Mathematics and Sciences Ajman University Ajman United Arab Emirates Department of Medicine Memorial University St. John's NL Canada Postgraduate Department University of Sierra Sur Miahuatlan de Porfirio Diaz Mexico Yhteiskuntadatatieteen keskus (Centre for Social Data Science) Helsinki Finland Department of Internal Medicine Federal Medical Centre Abuja Nigeria Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Medical Biochemistry and Biophysics Karolinska Institutet (Karolinska Institute) Stockholm Sweden Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Department of Biopharmaceutics and Clinical Pharmacy University of Jordan Amman Jordan Medical Research Center Hamad Medical Corporation Doha Qatar Department of Biochemistry and Molecular Medicine Alfaisal University Riyadh Saudi Arabia College of Graduate Health Sciences University of Tennessee Memphis TN United States School of Medicine Sydney NSW Australia Centre for Social Research in Health University of New South Wales Sydney NSW Australia Internal Medicine and Alcohol Related Disease Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy Department of Medical and Surgical Sciences Università Cattolica di Roma (Catholic University of Rome) Rome Italy Department of Obstetrics and Gynecology University of Texas Medical Branch Galveston TX United States Department of Biochemistry Osun State University Osogbo Nigeria Department of Pharmacology and Therapeutics University of Medical Sciences Ondo Ondo Nigeria Department of Veteri

Background: Decades of steady improvements in life expectancy in Europe slowed down from around 2011, well before the COVID-19 pandemic, for reasons which remain disputed. We aimed to assess how changes in risk factors and cause-specific death rates in different European countries related to changes in life expectancy in those countries before and during the COVID-19 pandemic. Methods: We used data and methods from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to compare changes in life expectancy at birth, causes of death, and population exposure to risk factors in 16 European Economic Area countries (Austria, Belgium, Denmark, Finland, France, Germany, Greece, Iceland, Ireland, Italy, Luxembourg, the Netherlands, Norway, Portugal, Spain, and Sweden) and the four UK nations (England, Northern Ireland, Scotland, and Wales) for three time periods: 1990–2011, 2011–19, and 2019–21. Changes in life expectancy and causes of death were estimated with an established life expectancy cause-specific decomposition method, and compared with summary exposure values of risk factors for the major causes of death influencing life expectancy. Findings: All countries showed mean annual improvements in life expectancy in both 1990–2011 (overall mean 0·23 years [95% uncertainty interval [UI] 0·23 to 0·24]) and 2011–19 (overall mean 0·15 years [0·13 to 0·16]). The rate of improvement was lower in 2011–19 than in 1990–2011 in all countries except for Norway, where the mean annual increase in life expectancy rose from 0·21 years (95% UI 0·20 to 0·22) in 1990–2011 to 0·23 years (0·21 to 0·26) in 2011–19 (difference of 0·03 years). In other countries, the difference in mean annual improvement between these periods ranged from –0·01 years in Iceland (0·19 years [95% UI 0·16 to 0·21] vs 0·18 years [0·09 to 0·26]), to –0·18 years in England (0·25 years [0·24 to 0·25] vs 0·07 years [0·06 to 0·08]). In 2019–21, there was an overall decrease in mean annual life expectancy a

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

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biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

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