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Áreas de investigación Ciencias Biológicas La genética Expresión génica (incluido el microarray y otros enfoques de todo el genoma)
Áreas de investigación
Ciencias Biológicas
La genética
Expresión génica (incluido el microarray y otros enfoques de todo el genoma)
Estudios de asociación de todo el genoma en poblaciones ancestrales diversas: oportunidades, métodos, trampas y recomendaciones

Estudios de asociación de todo el genoma en poblaciones ancestrales diversas: oportunidades, métodos, trampas y recomendaciones

Roseann E Peterson ¹, Karoline Kuchenbaecker ², Raymond K Walters ³, Chia-Yen Chen ⁴, Alice B Popejoy ⁵, Sathish Periyasamy ⁶, Max Lam ³, Conrad Iyegbe ⁷, Rona J Strawbridge ⁸, Leslie Brick ⁹, Caitlin E Carey ¹⁰, Alicia R Martin ³, Jacquelyn L Meyers ¹¹, Jinni Su ¹², Junfang Chen ¹³, Alexis C Edwards ¹, Allan Kalungi ¹⁴, Nastassja Koen ¹⁵, Lerato Majara ¹⁶, Emanuel Schwarz ¹³, Jordan W Smoller ¹⁷, Eli A Stahl ¹⁸, Patrick F Sullivan ¹⁹, Evangelos Vassos ²⁰, Bryan Mowry ⁶, Miguel L Prieto ²¹, Alfredo Cuellar-Barboza ²², Tim B Bigdeli ¹¹, Howard J Edenberg ²³, Hailiang Huang ³, Laramie E Duncan ²⁴

Roseann E Peterson ¹, Karoline Kuchenbaecker ², Raymond K Walters ³

¹Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA 23298, USA.
²Division of Psychiatry and UCL Genetics Institute, University College London, London W1T 7NF, UK.
³Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
⁴Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
⁵Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA 94305, USA.
⁶Queensland Brain Institute and Queensland Centre for Mental Health Research, The University of Queensland, Brisbane, QLD 4072, Australia.
⁷Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
⁸Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8RZ, UK; Department of Medicine Solna, Karolinska Institute, Stockholm, SE 17176, Sweden.
⁹Department of Psychiatry and Human Behavior, Warren Alpert Medical School, Brown University, Providence, RI 02906, USA.
¹⁰Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
¹¹Department of Psychiatry, State University of New York Downstate Medical Center, Brooklyn, NY 11203, USA.
¹²Department of Psychology, Arizona State University, Tempe, AZ 85281, USA.
¹³Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, 68159 Mannheim, Germany.
¹⁴Mental Health Section of MRC/UVRI and LSHTM Uganda Research Unit, P.O. Box 49, Entebbe, Uganda; Department of Psychiatry, Faculty of Medicine & Health Sciences, University of Stellenbosch, Cape Town, South Africa; Department of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA 02115, USA.
¹⁵Department of Psychiatry, Faculty of Medicine & Health Sciences, University of Stellenbosch, Cape Town, South Africa; Department of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA 02115, USA.
¹⁶Global Initiative for Neuropsychiatric Genetics Education in Research, Harvard T.H. Chan School of Public Health and Broad Institute, Boston, MA 02115, USA; MRC Human Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, 7925, South Africa.
¹⁷Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
¹⁸Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
¹⁹Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, SE 17176, Sweden; Genetics and Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
²⁰Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, SE5 8AF, UK.
²¹Department of Psychiatry, Faculty of Medicine, Universidad de los Andes, Santiago 7620001, Chile; Mental Health Service, Clínica Universidad de los Andes, Santiago 7620001, Chile; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
²²Department of Psychiatry, University Hospital and School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
²³Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
²⁴Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.

⁰Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA 23298, USA.

Cell +

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15 de octubre de 2019

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15 de octubre de 2019

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Ver abstracta en PubMed

Resumen

Este resumen es generado por máquina.

Los estudios de asociación de todo el genoma (GWAS) necesitan participantes más diversos para mejorar la investigación genética para todos. El análisis de diversos datos genéticos es crucial y cada vez es más factible con nuevas herramientas analíticas.

Área De La Ciencia

La genómica
Genética de las poblaciones
La bioinformática

Sus Antecedentes

Los estudios de asociación de todo el genoma (GWAS) han carecido históricamente de diversidad, centrándose principalmente en las poblaciones de ascendencia europea.
Esta falta de representación limita la generalización y la integridad de la comprensión de la arquitectura genética actual.
Garantizar una representación diversa es esencial para una investigación genética equitativa e integral.

Objetivo Del Estudio

Abogar por y facilitar una mayor representación de diversas poblaciones en la investigación genética.
Esbozar las consideraciones metodológicas clave para el análisis de cohortes de ascendencia múltiple y mezcladas.
Resaltar las oportunidades, los desafíos y las soluciones en este campo.

Principales Métodos

Revisión y síntesis de las metodologías actuales para el análisis de diversos datos genéticos.
Identificación de los desafíos y las posibles soluciones para los GWAS de origen múltiple.
Discusión de la caja de herramientas analíticas en expansión disponible para dicha investigación.

Principales Resultados

El análisis de datos genéticos de diversas poblaciones es científico y éticamente imperativo.
A pesar de las dificultades percibidas, las herramientas analíticas para diversas cohortes están avanzando rápidamente.
El aumento de la diversidad mejora la comprensión de la arquitectura genética en todas las poblaciones.

Conclusiones

Promover la investigación en cohortes multi-ancestrales y mezcladas es fundamental para el avance de la ciencia genómica.
Superar los desafíos en el análisis de diversos datos genéticos es posible con los métodos actuales y en desarrollo.
La representación equitativa en los estudios genéticos es esencial para una amplia aplicabilidad e integridad científica.

Palabras clave:

Las GWAS poblaciones mezcladas Su ascendencia enfermedad compleja El cruce de antepasados La diversidad genética de poblaciones psiquiatría Trans-ascendencia trans-étnico

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