Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease

Milz, Esther; Bellenguez, Céline; Martinez, Luis Eduardo; Galimberti, Daniela; Bossù, Paola; Sorbi, Sandro; Heilmann-Heimbach, Stefanie; Muchnik, Carolina; Pilotto, Alberto; Solis, Patricia; Hoffmann, Per; Clarimon, Jordi; Fierens, Maria; Mangone, Carlos Alberto; Kairiyama, Claudia; Olivar, Natividad; Mecocci, Patrizia; Spalletta, Gianfranco; Medel, Nancy; Avalos, Mariana Soledad Sanchez; Ramirez, Alfredo; Lisso, Julieta; Becker, Julian; Sampaño, Marcelo; Politis, Daniel Gustavo; Caffarra, Paolo; Jessen, Frank; Morelli, Laura; Dalmasso, Maria Carolina; Mancuso, Michelangelo; Ingelsson, Martin; Galeano, Pablo; Brusco, Luis Ignacio; Lambert, Jean-Charles; Fezza, Cristina; Bosco, Paolo; Maier, Wolfgang; Castaño, Eduardo Miguel; Jemar, Guillermo; Scaro, Horacio; Kochen, Silvia; Liberczuk, Cynthia; Panza, Francesco; Carulla, Mariana Estela; Sánchez-Juan, Pascual; Azurmendi, Pablo Javier; Sevillano, Zulma; Prestia, Federico A.; Graff, Caroline; Nacmias, Benedetta; Hanses, Claudia; Coto, Eliecer; Sanchez-Garcia, Florentino; Bullido, Maria

DSpace Principal
→
Hospital El Cruce
→
Centro de Medicina Traslacional (CEMET)
→
Estudios en Neurociencias y Sistemas Complejos (ENyS)
→
Artículos científicos
→
Ver ítem

dc.contributor.author	Dalmasso, Maria Carolina
dc.contributor.author	Brusco, Luis Ignacio
dc.contributor.author	Olivar, Natividad
dc.contributor.author	Muchnik, Carolina
dc.contributor.author	Hanses, Claudia
dc.contributor.author	Milz, Esther
dc.contributor.author	Becker, Julian
dc.contributor.author	Heilmann-Heimbach, Stefanie
dc.contributor.author	Hoffmann, Per
dc.contributor.author	Prestia, Federico A.
dc.contributor.author	Galeano, Pablo
dc.contributor.author	Avalos, Mariana Soledad Sanchez
dc.contributor.author	Martinez, Luis Eduardo
dc.contributor.author	Carulla, Mariana Estela
dc.contributor.author	Azurmendi, Pablo Javier
dc.contributor.author	Liberczuk, Cynthia
dc.contributor.author	Fezza, Cristina
dc.contributor.author	Sampaño, Marcelo
dc.contributor.author	Fierens, Maria
dc.contributor.author	Jemar, Guillermo
dc.contributor.author	Solis, Patricia
dc.contributor.author	Medel, Nancy
dc.contributor.author	Lisso, Julieta
dc.contributor.author	Sevillano, Zulma
dc.contributor.author	Bosco, Paolo
dc.contributor.author	Bossù, Paola
dc.contributor.author	Spalletta, Gianfranco
dc.contributor.author	Galimberti, Daniela
dc.contributor.author	Mancuso, Michelangelo
dc.contributor.author	Nacmias, Benedetta
dc.contributor.author	Sorbi, Sandro
dc.contributor.author	Mecocci, Patrizia
dc.contributor.author	Pilotto, Alberto
dc.contributor.author	Caffarra, Paolo
dc.contributor.author	Panza, Francesco
dc.contributor.author	Bullido, Maria
dc.contributor.author	Clarimon, Jordi
dc.contributor.author	Sánchez-Juan, Pascual
dc.contributor.author	Coto, Eliecer
dc.contributor.author	Sanchez-Garcia, Florentino
dc.contributor.author	Graff, Caroline
dc.contributor.author	Ingelsson, Martin
dc.contributor.author	Bellenguez, Céline
dc.contributor.author	Castaño, Eduardo Miguel
dc.contributor.author	Kairiyama, Claudia
dc.contributor.author	Politis, Daniel Gustavo
dc.contributor.author	Kochen, Silvia
dc.contributor.author	Scaro, Horacio
dc.contributor.author	Maier, Wolfgang
dc.contributor.author	Jessen, Frank
dc.contributor.author	Mangone, Carlos Alberto
dc.contributor.author	Lambert, Jean-Charles
dc.contributor.author	Morelli, Laura
dc.contributor.author	Ramirez, Alfredo
dc.date.accessioned	2023-04-13T18:51:11Z
dc.date.available	2023-04-13T18:51:11Z
dc.date.issued	2019-01-31
dc.identifier.citation	Dalmasso, M.C., Brusco, L.I., Olivar, N. et al. Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease. Transl Psychiatry 9, 55 (2019). https://doi.org/10.1038/s41398-019-0394-9	es_AR
dc.identifier.other	https://doi.org/ 10.1038/s41398-019-0394-9
dc.identifier.uri	http://repositorio.hospitalelcruce.org/xmlui/handle/123456789/1359
dc.description	Fil: Dalmasso, Maria Carolina Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.). Buenos Aires; Argentina	es
dc.description	Fil: Brusco, Luis Ignacio Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Olivar, Natividad Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Muchnik, Carolina Laboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Hanses, Claudia Department of Psychiatry and Psychotherapy, University of Bonn. 53127 Bonn; Germany	es
dc.description	Fil: Milz, Esther Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne. 50937 Cologne; Germany	es
dc.description	Fil: Becker, Julian Department of Psychiatry and Psychotherapy, University of Bonn. 53127 Bonn; Germany	es
dc.description	Fil: Heilmann-Heimbach, Stefanie Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital. 53127 Bonn; Germany	es
dc.description	Fil: Hoffmann, Per Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital. 53127 Bonn; Germany	es
dc.description	Fil: Prestia, Federico A. Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.). Buenos Aires; Argentina	es
dc.description	Fil: Galeano, Pablo Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.). Buenos Aires; Argentina	es
dc.description	Fil: Avalos, Mariana Soledad Sanchez Ministerio de Salud de la Provincia de Jujuy, Programa del Adulto Mayor, San Salvador de Jujuy. Jujuy; Argentina.	es
dc.description	Fil: Martinez, Luis Eduardo Hospital Interzonal General de Agudos Eva Perón, San Martín. Buenos Aires; Argentina	es
dc.description	Fil: Carulla, Mariana Estela Hospital Interzonal General de Agudos Eva Perón, San Martín. Buenos Aires; Argentina	es
dc.description	Fil: Azurmendi, Pablo Javier Laboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Liberczuk, Cynthia Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Fezza, Cristina Laboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Sampaño, Marcelo Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina.	es
dc.description	Fil: Fierens, Maria Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina.	es
dc.description	Fil: Jemar, Guillermo Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina.	es
dc.description	Fil: Solis, Patricia Neurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce “Dr. Néstor Kirchner”, Univ Arturo Jauretche, F. Varela. Buenos Aires; Argentina.	es
dc.description	Fil: Medel, Nancy Neurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce “Dr. Néstor Kirchner”, Univ Arturo Jauretche, F. Varela. Buenos Aires; Argentina.	es
dc.description	Fil: Lisso, Julieta Neurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce “Dr. Néstor Kirchner”, Univ Arturo Jauretche, F. Varela. Buenos Aires; Argentina.	es
dc.description	Fil: Sevillano, Zulma Neurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce “Dr. Néstor Kirchner”, Univ Arturo Jauretche, F. Varela. Buenos Aires; Argentina.	es
dc.description	Fil: Bosco, Paolo Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Associazione Oasi Maria Santissima Srl. Troina; Italy	es
dc.description	Fil: Bossù, Paola Department of Clinical and Behavioural Neurology, Experimental Neuropsychobiology Laboratory. Rome; Italy.	es
dc.description	Fil: Spalletta, Gianfranco Department of Clinical and Behavioural Neurology, Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation. Rome; Italy.	es
dc.description	Fil: Galimberti, Daniela Neurodegenerative Diseases Center, University of Milan, Centro Dino Ferrari, Fondazione Ca′Granda, IRCCS Ospedale Maggiore Policlinico. Milan; Italy	es
dc.description	Fil: Mancuso, Michelangelo Department of Experimental and Clinical Medicine, Neurological Institute, University of Pisa. Pisa; Italy	es
dc.description	Fil: Nacmias, Benedetta NEUROFARBA (Department of Neuroscience, Psychology, Drug Research and Child Health), University of Florence. Florence; Italy	es
dc.description	Fil: Sorbi, Sandro NEUROFARBA (Department of Neuroscience, Psychology, Drug Research and Child Health), University of Florence. Florence; Italy	es
dc.description	Fil: Mecocci, Patrizia Section of Gerontology and Geriatrics, Department of Medicine, University of Perugia. Perugia; Italy.	es
dc.description	Fil: Pilotto, Alberto Geriatric Unit and Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza. San Giovanni Rotondo; Italy	es
dc.description	Fil: Caffarra, Paolo Section of Neuroscience, DIMEC, University of Parma. Parma; Italy	es
dc.description	Fil: Panza, Francesco Neurodegenerative Disease Unit, Department of Basic Medicine, Neuroscience, and Sense Organs, University of Bari Aldo Moro. Bari; Italy	es
dc.description	Fil: Bullido, Maria Instituto de Investigación Sanitaria Hospital la Paz (IdiPAZ). Madrid; Spain	es
dc.description	Fil: Clarimon, Jordi Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid; Spain	es
dc.description	Fil: Sánchez-Juan, Pascual Neurology Service and CIBERNED, ′Marqués de Valdecilla′ University Hospital (University of Cantabria and IDIVAL). Santander; Spain	es
dc.description	Fil: Coto, Eliecer Molecular Genetics LaboratoryHospital, University of Central Asturias. Oviedo; Spain	es
dc.description	Fil: Sanchez-Garcia, Florentino Immunology Service, Hospital Universitario de Gran Canaria Doctor Negrín. Las Palmas de Gran Canaria; Spain.	es
dc.description	Fil: Graff, Caroline Genetics Unit, Theme Aging, Karolinska University Hospital. Solna; Sweden	es
dc.description	Fil: Ingelsson, Martin Department of Public Health/Geriatrics, Uppsala University. Uppsala; Sweden	es
dc.description	Fil: Bellenguez, Céline INSERM, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases. F-59000 Lille; France	es
dc.description	Fil: Castaño, Eduardo Miguel Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.). Buenos Aires; Argentina	es
dc.description	Fil: Kairiyama, Claudia Hospital Interzonal General de Agudos Eva Perón, San Martín. Buenos Aires; Argentina	es
dc.description	Fil: Politis, Daniel Gustavo Hospital Interzonal General de Agudos Eva Perón, San Martín. Buenos Aires; Argentina	es
dc.description	Fil: Kochen, Silvia Neurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce “Dr. Néstor Kirchner”, Univ Arturo Jauretche, F. Varela. Buenos Aires; Argentina	es
dc.description	Fil: Scaro, Horacio Ministerio de Salud de la Provincia de Jujuy, Programa del Adulto Mayor, San Salvador de Jujuy. Jujuy; Argentina.	es
dc.description	Fil: Maier, Wolfgang German Center for Neurodegenerative Diseases (DZNE). 53127 Bonn; Germany	es
dc.description	Fil: Jessen, Frank German Center for Neurodegenerative Diseases (DZNE). 53127 Bonn; Germany	es
dc.description	Fil: Mangone, Carlos Alberto Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A. Buenos Aires; Argentina	es
dc.description	Fil: Lambert, Jean-Charles INSERM, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases. F-59000 Lille; France	es
dc.description	Fil: Morelli, Laura Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.). Buenos Aires; Argentina	es
dc.description	Fil: Ramirez, Alfredo Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne. 50937 Cologne; Germany	es
dc.description.abstract	Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer’s disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.	es_AR
dc.language.iso	en	es_AR
dc.relation.ispartofseries	Transl Psychiatry;9, 55
dc.subject	Dementias, Alzheimer	es_AR
dc.subject	Alzheimer Syndrome	es_AR
dc.subject	Alzheimer Type Dementia (ATD)	es_AR
dc.title	Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease	es_AR
dc.type	Article	es_AR