Abstract
Psychiatric disorders are highly heritable and polygenic, influenced by environmental factors and often comorbid. Large-scale genome-wide association studies (GWASs) through consortium efforts have identified genetic risk loci and revealed the underlying biology of psychiatric disorders and traits. However, over 85% of psychiatric GWAS participants are of European ancestry, limiting the applicability of these findings to non-European populations. Latin America and the Caribbean, regions marked by diverse genetic admixture, distinct environments and healthcare disparities, remain critically understudied in psychiatric genomics. This threatens access to precision psychiatry, where diversity is crucial for innovation and equity. This Review evaluates the current state and advancements in psychiatric genomics within Latin America and the Caribbean, discusses the prevalence and burden of psychiatric disorders, explores contributions to psychiatric GWASs from these regions and highlights methods that account for genetic diversity. We also identify existing gaps and challenges and propose recommendations to promote equity in psychiatric genomics.
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Fig. 1: Genetic diversity in Latin America.
Fig. 2: Psychiatric genetics research in Latin America.
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Acknowledgements
This work was supported by the following: the Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP), Brazil, grant number 2021/15030-9 (E.M.B.); the National Institutes of Health (NIH), NIMH grant number R01MH131013 (D.L.R.); FAPESP grant number 2020/05652-0 (D.L.R.), a Kavli Institute for Neuroscience at Yale University Kavli Postdoctoral Award for Academic Diversity (J.J.M.-M.); NIH, National Institute on Drug Abuse (NIDA), DP1DA054394 (C.M.N.), T32IR5226 (C.M.N.), a Center for Brain and Mind Health Postdoctoral Fellowship (D.L.N.-R.); NIMH R01MH125938 (R.E.P.), the Brain & Behavior Research Foundation NARSAD grant 28632 P&S Fund (R.E.P.), FAPESP 2023/05560-6 (M.L.S.), FAPESP 2023/12252-6 (C.E.B.), the Conselho Nacional de Desenvolvimento Científico e Tecnológico (grants 466722/2014-1, 424041/2016-2, 426905/2016-2, 405434/2023-5) (C.H.D.B.), the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—Brasil (CAPES, finance code 001) (C.H.D.B.), the FIPE-HCPA (16-0600, 21-0254) (C.H.D.B.), the Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (19/2551-0001731-6, 19/2551-0001668-9) (C.H.D.B.), NIMH R01MH136149 (C.M.B.); NIMH R01MH134039 (C.M.B.), NIMH R56MH129437 (C.M.B.); NIMH R01MH120170 (C.M.B.); NIMH R01MH124871 (C.M.B.); NIMH R01MH119084 (C.M.B.); NIMH R01MH118278 (C.M.B.); NIMH R01MH124871 (C.M.B.); the Swedish Research Council (Vetenskapsrådet, award 538-2013-8864) (C.M.B.), the São Paulo Research Foundation (19/13229-2) (F.C.-Z.); NIMH U01MH125050 (J.J.C.); an Interdisciplinary Research Fellowship in NeuroAIDs (IRFN), 5R25MH081482-17 (R.B.C.); Fulbright–Minciencias (J.F.D.l.H.), PGC Substance Use Disorders, NIDA 5R01DA054869 (J.G.); ANID/FONDECYT Regular (1210195, 1210176 and 1220995) (A.I.); ANID/FONDAP/15150012 (A.I.); ANID/PIA/ANILLOS ACT210096 (A.I.); ANID/FONDAP 15150012 (A.I.); and the Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat, supported by the Fogarty International Center and the NIH, National Institute on Aging (R01 AG057234, R01 AG075775, R01 AG021051, CARDS-NIH), the Alzheimer’s Association (SG-20-725707), the Rainwater Charitable Foundation (Tau Consortium), the Bluefield Project to Cure Frontotemporal Dementia and the Global Brain Health Institute)) (A.I.); NIMH R01MH131013 (Y.C.L. and V.F.O.); the São Paulo Research Foundation (2020/15752-1) (C.M.L.); the CASA Research Chair; One Child Every Child grant, the University of Calgary (D.M.-D.-L.); NIH/NIDA DP1 DA054373 (Q.P.); the Chilean National Agency for Investigation and Development, ANID Fondecyt grant 1221464 (E.P.-P.); CONICYT FONDECYT Regular 1181365, ANID FONDEF ID19I10116 and ANID FONDEF ID24I10081 (M.L.P.); the Fundação Universidade do Vale do Taquari de Educação e Desenvolvimento Social (FUVATES) (F.M.S.); a National Science Foundation Graduate Research Fellowship (2023351083) (R.R.S.); NIMH U01MH125062 (E.A.S.); FAPESP 2023/05560-6 (M.L.S.); NIH/NHGRI R01HG012869 (E.G.A.); NIH/NIMH U01MH109528 to P. Sullivan; NIMH K01MH121580 (G.R.F.), FAPESP 13/08028 (M.R.P.-B.). The funders had no role in study design, data collection and analysis, decision to publish or manuscript preparation.
Author information
Author notes
These authors contributed equally: Estela M. Bruxel, Diego L. Rovaris.
A full list of members and their affiliations appears in the Supplementary Information.
Authors and Affiliations
Department of Translational Medicine, School of Medical Sciences, University of Campinas, Campinas, Brazil
Estela M. Bruxel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Estela M. Bruxel, Yi-Sian Lin, Grace E. Tietz & Elizabeth G. Atkinson
Department of Physiology and Biophysics, Instituto de Ciencias Biomedicas, Universidade de São Paulo, São Paulo, Brazil
Diego L. Rovaris, Cibele E. Bandeira, Yago C. Lima & Victor F. Oliveira
Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
Sintia I. Belangero & Vanessa K. Ota
Laboratory of Integrative Neuroscience, Universidade Federal de São Paulo, São Paulo, Brazil
Sintia I. Belangero & Vanessa K. Ota
Escuela de Biología y Centro de Investigación en Biología Celular y Molecular, Universidad de Costa Rica, San Pedro, Costa Rica
Gabriela Chavarría-Soley
Department of Psychiatry, School of Medicine, Universidad Autónoma de Nuevo León, San Nicolás de los Garza, México
Alfredo B. Cuellar-Barboza
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA
Alfredo B. Cuellar-Barboza
Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA
José J. Martínez-Magaña, Sheila T. Nagamatsu, Diana L. Núñez-Ríos, Diego Andrade-Brito, Joel Gelernter, Adriana Hernández-Garayua, Hang Zhou & Janitza L. Montalvo-Ortiz
Psychiatry Division, VA Connecticut Healthcare Center, West Haven, CT, USA
José J. Martínez-Magaña, Sheila T. Nagamatsu, Diana L. Núñez-Ríos, Joel Gelernter, Adriana Hernández-Garayua, Hang Zhou & Janitza L. Montalvo-Ortiz
Department of Psychiatry, University of California San Diego, La Jolla, CA, USA
Caroline M. Nievergelt, Renata B. Cupertino, Abraham A. Palmer & Sandra Sanchez-Roige
Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA
Caroline M. Nievergelt, Abraham A. Palmer & Sandra Sanchez-Roige
Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA
Caroline M. Nievergelt & Sandra Sanchez-Roige
Department of Psychiatry and Behavioral Sciences, Institute for Genomics in Health, State University of New York Downstate Health Sciences University, Brooklyn, NY, USA
Roseann E. Peterson
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Laura G. Sloofman, Joseph D. Buxbaum, Carolina Cappi, Suzannah S. De Almeida, Dorothy E. Grice & Suzannah S. De Almeida
Department of Psychiatry and Behavioral Sciences, Texas A&M University, College Station, TX, USA
Amy M. Adams & John M. Hettema
School of Health Professions, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico
Elinette Albino
Research Unit in Molecular Pharmacology and Genomic Medicine, VRI, San Ignacio de Loyola University, La Molina, Perú
Angel T. Alvarado
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Paola Y. Arguello-Pascualli
Department of Genetics, Institute of Biosciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Claiton H. D. Bau & Maria Eduarda A. Tavares
Laboratory of Developmental Psychiatry, Center of Experimental Research, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
Claiton H. D. Bau
Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Cynthia M. Bulik
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
Cynthia M. Bulik
Departamento de Psicología, Universidad de Sonora, Hermosillo, México
Nadia S. Corral-Frias
Departamento de Psiquiatría, Universidad Nacional de Tucumán, San Miguel de Tucumán, Argentina
Alejo Corrales
Department of Neuroscience, Ribeirão Preto Medical School, Universidade de São Paulo, São Paulo, Brazil
Fabiana Corsi-Zuelli & Camila M. Loureiro
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
James J. Crowley
Department of Basic Health Sciences, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil
Bruna S. da Silva & Bruna S. da Silva
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Suzannah S. De Almeida & Suzannah S. De Almeida
Center for Disease Neurogenomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Suzannah S. De Almeida, Panos Roussos, Georgios Voloudakis & Suzannah S. De Almeida
Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
Juan F. De la Hoz & Juan F. De la Hoz
Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA
Juan F. De la Hoz & Juan F. De la Hoz
School of Health and Sport Sciences, Fundación Universitaria del Área Andina, Bogotá, Colombia
Diego A. Forero
Faillace Department of Psychiatry and Behavioral Sciences, the University of Texas Health Science Center at Houston, Houston, TX, USA
Gabriel R. Fries
Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia
Yeimy González-Giraldo
Department of Psychiatry and Legal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Eugenio H. Grevet
Latin American Brain Health Institute, Universidad Adolfo Ibañez, Santiago de Chile, Chile
Agustín Ibáñez
Global Brain Health Institute, Trinity College Dublin, Dublin, Ireland
Agustín Ibáñez
Department of Biostatistics, Columbia University, New York, NY, USA
Iuliana Ionita-Laza
Department of Statistics, Lund University, Lund, Sweden
Iuliana Ionita-Laza
Department of Biological Sciences, Universidad de los Andes, Bogotá, Colombia
Maria Claudia Lattig
Quantitative Safety Epidemiology, Novartis Pharma, East Hanover, NJ, USA
Sandra López-León
Rutgers Center for Pharmacoepidemiology and Treatment Science, Rutgers University, New Brunswick, NJ, USA
Sandra López-León
Department of Pathology, University of California Davis, Sacramento, CA, USA
Verónica Martínez-Cerdeño
Department of Genetics, Subdirectorate of Clinical Research, National Institute of Psychiatry, México City, México
Gabriela A. Martínez-Levy
Department of Cell and Tissular Biology, Medicine Faculty, National Autonomous University of Mexico, México City, México
Gabriela A. Martínez-Levy
School of Pharmacy, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico
Kyle Melin, Bianca A. Torres-Hernández & Fernando Vera-Urbina
Precision Medicine in Autism Group, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, CASA Mental Health, Edmonton, Alberta, Canada
Daniel Moreno-De-Luca
Department of Psychiatry, Universidade Federal de São Paulo, São Paulo, Brazil
Carolina Muniz Carvalho
Broad Institute of Massachusetts Institute of Technology and Harvard University, Boston, MA, USA
Ana Maria Olivares
Disciplina de Biologia Molecular, Universidade Federal de São Paulo, São Paulo, Brazil
Rafaella Ormond & Marcos L. Santoro
Science for Life Laboratory, Department of Oncology–Pathology, Karolinska Institutet, Solna, Sweden
Alana C. Panzenhagen
Laboratório de Pesquisa Translacional em Comportamento Suicida, Universidade do Vale do Taquari, Lajeado, Brazil
Alana C. Panzenhagen
Departmento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
Maria Rita Passos-Bueno
Department of Neuroscience, the Scripps Research Institute, La Jolla, CA, USA
Qian Peng
Facultad de Medicina Clínica Alemana, Centro de Genética y Genómica, Universidad del Desarrollo, Santiago, Chile
Eduardo Pérez-Palma
Mental Health Service, Clínica Universidad de los Andes, Santiago, Chile
Miguel L. Prieto
Department of Psychiatry, Faculty of Medicine, Universidad de los Andes, Santiago, Chile
Miguel L. Prieto
PhD Program of Neuroscience, Pontificia Universidad Javeriana, Hospital San Ignacio, Center for Memory and Cognition, Intellectus, Bogotá, Colombia
Hernando Santamaría-García
Graduate Program of Medical Sciences, Universidade do Vale do Taquari, Lajeado, Brazil
Flávio M. Shansis
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
Flávio M. Shansis
Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Rachel R. Sharp
Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX, USA
Eric A. Storch
Postgraduate Program in Epidemiology, Federal University of Pelotas, Pelotas, Brazil
Luciana Tovo-Rodrigues
Department of Psychiatry and Behavioral Sciences, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Pilar Trelles
Research Department, Comenzar de Nuevo Eating Disorders Treatment Center, Monterrey, México
Eva M. Trujillo-ChiVacuan
Escuela de Medicina y Ciencias de la Salud Tecnológico de Monterrey, Monterrey, México
Eva M. Trujillo-ChiVacuan
Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia
Maria M. Velásquez
Precision Medicine, Instituto Nacional de Cancerología, México City, México
Talia Wegman-Ostrosky
Department of Psychiatry, Harvard Medical School, Boston, MA, USA
Jenny Zhen-Duan
Laboratorio de Enfermedades Psiquiátricas, Neurodegenerativas y Adicciones, Instituto Nacional de Medicina Genómica, Mexico City, México
Humberto Nicolini
Jan and Dan Duncan Neurological Research Center, Texas Children’s Hospital, Houston, TX, USA
Elizabeth G. Atkinson
Department of Psychiatry, University of Florida College of Medicine, Gainesville, FL, USA
Paola Giusti-Rodríguez
Department of Biomedical Informatics and Data Science, Yale University School of Medicine, New Haven, CT, USA
Janitza L. Montalvo-Ortiz
Authors
Estela M. Bruxel
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2. Diego L. Rovaris
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6. José J. Martínez-Magaña
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7. Sheila T. Nagamatsu
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9. Diana L. Núñez-Ríos
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27. Renata B. Cupertino
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28. Bruna S. da Silva
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29. Suzannah S. De Almeida
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30. Juan F. De la Hoz
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31. Diego A. Forero
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32. Gabriel R. Fries
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33. Joel Gelernter
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34. Yeimy González-Giraldo
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35. Eugenio H. Grevet
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36. Dorothy E. Grice
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37. Adriana Hernández-Garayua
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38. John M. Hettema
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39. Agustín Ibáñez
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40. Iuliana Ionita-Laza
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41. Maria Claudia Lattig
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42. Yago C. Lima
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43. Yi-Sian Lin
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44. Sandra López-León
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46. Verónica Martínez-Cerdeño
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47. Gabriela A. Martínez-Levy
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48. Kyle Melin
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49. Daniel Moreno-De-Luca
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50. Carolina Muniz Carvalho
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51. Ana Maria Olivares
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52. Victor F. Oliveira
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53. Rafaella Ormond
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54. Abraham A. Palmer
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55. Alana C. Panzenhagen
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56. Maria Rita Passos-Bueno
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57. Qian Peng
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58. Eduardo Pérez-Palma
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59. Miguel L. Prieto
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60. Panos Roussos
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61. Sandra Sanchez-Roige
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62. Hernando Santamaría-García
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63. Flávio M. Shansis
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64. Rachel R. Sharp
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65. Eric A. Storch
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66. Maria Eduarda A. Tavares
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67. Grace E. Tietz
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68. Bianca A. Torres-Hernández
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69. Luciana Tovo-Rodrigues
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70. Pilar Trelles
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71. Eva M. Trujillo-ChiVacuan
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72. Maria M. Velásquez
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73. Fernando Vera-Urbina
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74. Georgios Voloudakis
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75. Talia Wegman-Ostrosky
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76. Jenny Zhen-Duan
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77. Hang Zhou
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78. Marcos L. Santoro
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79. Humberto Nicolini
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80. Elizabeth G. Atkinson
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81. Paola Giusti-Rodríguez
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82. Janitza L. Montalvo-Ortiz
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Consortia
Latin American Genomics Consortium
Estela M. Bruxel
, Diego L. Rovaris
, Sintia I. Belangero
, Gabriela Chavarría-Soley
, Alfredo B. Cuellar-Barboza
, José J. Martínez-Magaña
, Sheila T. Nagamatsu
, Caroline M. Nievergelt
, Diana L. Núñez-Ríos
, Vanessa K. Ota
, Roseann E. Peterson
, Laura G. Sloofman
, Amy M. Adams
, Elinette Albino
, Angel T. Alvarado
, Diego Andrade-Brito
, Paola Y. Arguello-Pascualli
, Cibele E. Bandeira
, Claiton H. D. Bau
, Cynthia M. Bulik
, Joseph D. Buxbaum
, Carolina Cappi
, Nadia S. Corral-Frias
, Alejo Corrales
, Fabiana Corsi-Zuelli
, James J. Crowley
, Renata B. Cupertino
, Bruna S. da Silva
, Suzannah S. De Almeida
, Juan F. De la Hoz
, Diego A. Forero
, Gabriel R. Fries
, Joel Gelernter
, Yeimy González-Giraldo
, Eugenio H. Grevet
, Dorothy E. Grice
, Adriana Hernández-Garayua
, John M. Hettema
, Agustín Ibáñez
, Iuliana Ionita-Laza
, Maria Claudia Lattig
, Yago C. Lima
, Yi-Sian Lin
, Sandra López-León
, Camila M. Loureiro
, Verónica Martínez-Cerdeño
, Gabriela A. Martínez-Levy
, Kyle Melin
, Daniel Moreno-De-Luca
, Carolina Muniz Carvalho
, Ana Maria Olivares
, Victor F. Oliveira
, Rafaella Ormond
, Abraham A. Palmer
, Alana C. Panzenhagen
, Maria Rita Passos-Bueno
, Qian Peng
, Eduardo Pérez-Palma
, Miguel L. Prieto
, Panos Roussos
, Sandra Sanchez-Roige
, Hernando Santamaría-García
, Flávio M. Shansis
, Rachel R. Sharp
, Eric A. Storch
, Maria Eduarda A. Tavares
, Grace E. Tietz
, Bianca A. Torres-Hernández
, Luciana Tovo-Rodrigues
, Pilar Trelles
, Eva M. Trujillo-ChiVacuan
, Maria M. Velásquez
, Fernando Vera-Urbina
, Georgios Voloudakis
, Talia Wegman-Ostrosky
, Jenny Zhen-Duan
, Hang Zhou
, Marcos L. Santoro
, Humberto Nicolini
, Elizabeth G. Atkinson
, Paola Giusti-Rodríguez
& Janitza L. Montalvo-Ortiz
Contributions
E.M.B. and D.L.R. contributed equally as co-first authors to manuscript writing and editing as well as figure generation. E.M.B., D.L.R., S.I.B., G.C.-S., A.B.C.-B., J.J.M.-M., S.T.N., C.M.N., D.L.N.-R., V.K.O., R.E.P. and L.G.S. contributed to manuscript writing as primary writers in individual sections and literature review. A.M.A., E.A., A.T.A., D.A.-B., P.Y.A.-P., C.E.B., C.H.D.B., C.M.B., J.D.B., C.C., N.S.C.-F., A.C., F.C.-Z., J.J.C., R.B.C., B.S.d.S., S.S.D.A., J.F.D.l.H., D.A.F., G.R.F., J.G., Y.G.-G., E.H.G., D.E.G., J.M.H., A.H.-G., A.I., I.I.-L., M.C.L., Y.C.L., Y.-S.L., S.L.-L., C.M.L., V.M.-C., G.A.M.-L., K.M., C.M.C., D.M.-D.-L., A.M.O., V.F.O., R.O., A.A.P., A.C.P., M.R.P.-B., Q.P., E.P.-P., M.L.P., P.R., S.S.-R., H.S.-G., F.M.S., R.R.S., E.A.S., M.E.A.T., G.E.T., B.A.T.-H., L.T.-R., P.T., E.M.T.-C., M.M.V., F.V.-U., G.V., T.W.-O., J.Z.-D. and H.Z. contributed to manuscript writing as secondary writers and/or manuscript editing. M.L.S. and H.N. contributed as primary writers and provided feedback. E.G.A., P.G.-R. and J.L.M.-O. are co-corresponding authors; they directed the conceptualization and structure of the Review, contributed to manuscript writing as primary writers and provided feedback, J.L.M.-O. supervised and coordinated the manuscript content and writing. All authors reviewed and approved the contents of the manuscript.
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Correspondence to Elizabeth G. Atkinson, Paola Giusti-Rodríguez or Janitza L. Montalvo-Ortiz.
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Competing interests
C.M.B. reports receiving royalties from Pearson Education. S.L.-L. is an employee of Novartis Pharma; the statements presented do not necessarily represent the position of the company. E.A.S. reports receiving research funding to his institution from the Ream Foundation, the International OCD Foundation and the NIH. He was a consultant for BrainsWay and Biohaven Pharmaceuticals in the past 12 months. He owns stock less than $5,000 in nView (for distribution of the Y-BOCS and the CY-BOCS). He receives book royalties from Elsevier, Wiley, Oxford, the American Psychological Association, Guildford, Springer, Routledge and Jessica Kingsley. All other authors declare no competing interests.
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Bruxel, E.M., Rovaris, D.L., Belangero, S.I. et al. Psychiatric genetics in the diverse landscape of Latin American populations. Nat Genet (2025). https://doi.org/10.1038/s41588-025-02127-z
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Received:06 September 2024
Accepted:14 February 2025
Published:02 April 2025
DOI:https://doi.org/10.1038/s41588-025-02127-z
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