Evidence map›Paper›PMID 39502669›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Phenotype harmonization and analysis for The Populations Underrepresented in Mental illness Association Studies (the PUMAS Project).

Ana M Ramirez-Diaz, Ana M Diaz-Zuluaga, Rocky E Stroud, Annabel Vreeker, Mary Bitta, Franjo Ivankovic, Olivia Wootton, Cole A Whiteman, Hayden Mountcastle, Shaili C Jha and 50 more

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Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

60 authors.

Ana M Ramirez-DiazCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Ana M Diaz-ZuluagaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Rocky E StroudDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, USA.
Annabel VreekerDepartment of Psychology, Education and Child Studies, Erasmus University Rotterdam, Rotterdam, The Netherlands.
Mary BittaBrain and Mind Institute, Aga Khan University, Nairobi, Kenya.
Franjo IvankovicAnalytic and Translational Genetics Unit, Massachusetts General Hospital Research Institute, Richard B. Simches Research Building, Boston, USA.
Olivia WoottonDepartment of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Cole A WhitemanRobert Wood Johnson Medical School, Rutgers University, New Brunswick, USA.
Hayden MountcastleDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, USA.
Shaili C JhaDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, USA.
Penelope GeorgakopoulosCenter for Psychiatric Health and Genomics, Rutgers University, New Brunswick, USA.
Ishpreet KaurCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Laura MenaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Sandi AsaafCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
André Luiz de Souza RodriguesUniversidade do Estado do Para, Belém, Brazil.
Carolina ZieboldFederal University of São Paulo - UNIFESP, Department of Psychiatry, São Paulo, Brazil.
Charles R J C NewtonDepartment of Psychiatry, University of Oxford, Oxford, UK.
Dan J SteinDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Dickens AkenaDepartment of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Johanna Valencia-EcheverryResearch Group in Psychiatry (GIPSI), Department of Psychiatry, School of Medicine, Universidad de Antioquia, Medellin, Colombia.
Joseph KyebuzibwaDepartment of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Juan D Palacio-OrtizResearch Group in Psychiatry (GIPSI), Department of Psychiatry, School of Medicine, Universidad de Antioquia, Medellin, Colombia.
Justin McMahonDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, USA.
Linnet OngeriCenter for Clinical Research, Kenya Medical Research Institute, Nairobi, Kenya.
Lori B ChibnikStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, USA.ORCID 0000-0001-6293-806X
Lucas C QuarantiniUniversidade Federal da Bahia (UFBA), Salvador, Brazil.
Lukoye AtwoliDepartment of Mental Health and Behavioural Sciences, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
Marcos L SantoroDisciplina de Biologia Molecular, Departamento de Psiquiatria, Universidade Federal de São Paulo, São Paulo, Brazil.
Mark BakerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, USA.
Mateus J A DinizPax Instituto de Psiquiatria, Goiânia, Brazil.
Mauricio Castaño-RamirezDepartment of Mental Health and Human Behavior, Universidad de Caldas, Manizales, Colombia.
Melkam AlemayehuDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Nayana HolandaHospital de Saúde Mental Professor Frota Pinto (HSMM), Fortaleza, Brazil.
Nohora C Ayola-SerranoCEMIC Mental Health Clinic, Cartagena, Colombia.
Pedro G LorencettiLaboratory of Integrative Neuroscience (LiNC), Universidade Federal de São Paulo, São Paulo, Brazil.
Rehema M MwemaBrain and Mind Institute, Aga Khan University, Nairobi, Kenya.
Roxanne JamesDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Saulo AlbuquerqueHospital de Saúde Mental Professor Frota Pinto (HSMM), Fortaleza, Brazil.
Shivangi SharmaCenter for Psychiatric Health and Genomics, Rutgers University, New Brunswick, USA.
Sinéad B ChapmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, USA.
Sintia I BelangeroLaboratory of Integrative Neuroscience (LiNC), Universidade Federal de São Paulo, São Paulo, Brazil.
Solomon TeferraDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Stella GichuruDepartment of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya.
Susan K ServiceCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Symon M KariukiNeurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
Thiago H FreitasFederal University of São Paulo - UNIFESP, Department of Psychiatry, São Paulo, Brazil.
Zukiswa ZingelaExecutive Dean's Office, Faculty of Health Sciences, Nelson Mandela University, Gqebera, South Africa.
Ary GadelhaFederal University of São Paulo - UNIFESP, Department of Psychiatry, São Paulo, Brazil.
Carrie E BeardenCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Roel A OphoffCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Benjamin M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, USA.ORCID 0000-0003-1513-6077
Alicia R MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital Research Institute, Richard B. Simches Research Building, Boston, USA.ORCID 0000-0003-0241-3522
Karestan C KoenenStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, USA.
Carlos N PatoCenter for Psychiatric Health and Genomics, Rutgers University, New Brunswick, USA.
Carlos Lopez-JaramilloResearch Group in Psychiatry (GIPSI), Department of Psychiatry, School of Medicine, Universidad de Antioquia, Medellin, Colombia.
Victor ReusDepartment of Psychiatry and Behavioral Sciences, UCSF School of Medicine, UCSF Weill Institute for Neurosciences, San Francisco, USA.
Nelson FreimerCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.
Michele T PatoCenter for Psychiatric Health and Genomics, Rutgers University, New Brunswick, USA.
Bizu GelayeEpidemiology Branch, Division of Population Health Research, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA.
Loes Olde LoohuisCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, USA.

Funding

1/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125047 · NIMH · BROAD INSTITUTE, INC. · PI MARTIN, ALICIA, NEALE, BENJAMIN MICHAEL · 2020 to 2024
$11.5M
Genetics of Severe Mental IllnessR01MH113078 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, FREIMER, NELSON B. · 2017 to 2021
$5.8M
4/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125042 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B., LOPEZ JARAMILLO, CARLOS · 2020 to 2024
$5.3M
2/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125045 · NIMH · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI KOENEN, KARESTAN C · 2020 to 2024
$3.1M
Psychosis Genetics Research in Africa: Building Capacity by Investing in PeopleR01MH120642 · NIMH · BROAD INSTITUTE, INC. · PI AKENA, DICKENS HOWARD, CHIBNIK, LORI BETH · 2019 to 2023
$3.1M
3/4 Powering Genetic Discovery for Severe Mental Illness in Latin American andAfrican AncestriesU01MH125049 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI MULLE, JENNIFER GLADYS, PATO, CARLOS N · 2020 to 2024
$2.0M
NIMH NIH HHS R01 MH113078NIMH NIH HHS R01 MH120642NIMH NIH HHS U01 MH125042NIMH NIH HHS U01 MH125045NIMH NIH HHS U01 MH125047NIMH NIH HHS U01 MH125049
6 · The paper itself

Abstract

Background: The Populations Underrepresented in Mental illness Association Studies (PUMAS) project is attempting to remediate the historical underrepresentation of African and Latin American populations in psychiatric genetics through large-scale genetic association studies of individuals diagnosed with a serious mental illness [SMI, including schizophrenia (SCZ), schizoaffective disorder (SZA) bipolar disorder (BP), and severe major depressive disorder (MDD)] and matched controls. Given growing evidence indicating substantial symptomatic and genetic overlap between these diagnoses, we sought to enable transdiagnostic genetic analyses of PUMAS data by conducting phenotype alignment and harmonization for 89,320 participants (48,165 cases and 41,155 controls) from four cohorts, each of which used different ascertainment and assessment methods: PAISA n=9,105; PUMAS-LATAM n=14,638; NGAP n=42,953 and GPC n=22,624. As we describe here, these efforts have yielded harmonized datasets enabling us to analyze PUMAS genetic variation data at three levels: SMI overall, diagnoses, and individual symptoms. Methods: In aligning item-level phenotypes obtained from 14 different clinical instruments, we incorporated content, branching nature, and time frame for each phenotype; standardized diagnoses; and selected 19 core SMI item-level phenotypes for analyses. The harmonization was evaluated in PUMAS cases using multiple correspondence analysis (MCA), co-occurrence analyses, and item-level endorsement. Outcomes: We mapped >6,895 item-level phenotypes in the aggregated PUMAS data, in which SCZ (44.97%) and severe BP (BP-I, 31.53%) were the most common diagnoses. Twelve of the 19 core item-level phenotypes occurred at frequencies of > 10% across all diagnoses, indicating their potential utility for transdiagnostic genetic analyses. MCA of the 14 phenotypes that were present for all cohorts revealed consistency across cohorts, and placed MDD and SCZ into separate clusters, while other diagnoses showed no significant phenotypic clustering. Interpretation: Our alignment strategy effectively aggregated extensive phenotypic data obtained using diverse assessment tools. The MCA yielded dimensional scores which we will use for genetic analyses along with the item level phenotypes. After successful harmonization, residual phenotypic heterogeneity between cohorts reflects differences in branching structure of diagnostic instruments, recruitment strategies, and symptom interpretation (due to cultural variation).

Identifiers

PMID39502669
PMCPMC11537327

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