UAM_Biblioteca

View Item 

Show simple item record

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

dc.contributor.authorDalmasso, Maria Carolina
dc.contributor.authorBrusco, Luis Ignacio
dc.contributor.authorOlivar, Natividad
dc.contributor.authorMuchnik, Carolina
dc.contributor.authorHanses, Claudia
dc.contributor.authorMilz, Esther
dc.contributor.authorBecker, Julian
dc.contributor.authorHeilmann-Heimbach, Stefanie
dc.contributor.authorHoffmann, Per
dc.contributor.authorPrestia, Federico A.
dc.contributor.authorGaleano, Pablo
dc.contributor.authorAvalos, Mariana Soledad Sanchez
dc.contributor.authorMartinez, Luis Eduardo
dc.contributor.authorCarulla, Mariana Estela
dc.contributor.authorAzurmendi, Pablo Javier
dc.contributor.authorLiberczuk, Cynthia
dc.contributor.authorFezza, Cristina
dc.contributor.authorSampaño, Marcelo
dc.contributor.authorFierens, Maria
dc.contributor.authorJemar, Guillermo
dc.contributor.authorSolis, Patricia
dc.contributor.authorMedel, Nancy
dc.contributor.authorLisso, Julieta
dc.contributor.authorSevillano, Zulma
dc.contributor.authorBosco, Paolo
dc.contributor.authorBossù, Paola
dc.contributor.authorSpalletta, Gianfranco
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorMancuso, Michelangelo
dc.contributor.authorNacmias, Benedetta
dc.contributor.authorSorbi, Sandro
dc.contributor.authorMecocci, Patrizia
dc.contributor.authorPilotto, Alberto
dc.contributor.authorCaffarra, Paolo
dc.contributor.authorPanza, Francesco
dc.contributor.authorBullido Gómez-Heras, María Jesús 
dc.contributor.authorClarimon, Jordi
dc.contributor.authorSánchez-Juan, Pascual
dc.contributor.authorCoto, Eliecer
dc.contributor.authorSanchez-Garcia, Florentino
dc.contributor.authorGraff, Caroline
dc.contributor.authorIngelsson, Martin
dc.contributor.authorBellenguez, Céline
dc.contributor.authorCastaño, Eduardo Miguel
dc.contributor.authorKairiyama, Claudia
dc.contributor.authorPolitis, Daniel Gustavo
dc.contributor.authorKochen, Silvia
dc.contributor.authorScaro, Horacio
dc.contributor.authorMaier, Wolfgang
dc.contributor.authorJessen, Frank
dc.contributor.authorMangone, Carlos Alberto
dc.contributor.authorLambert, Jean Charles
dc.contributor.authorMorelli, Laura
dc.contributor.authorRamirez, Alfredo
dc.contributor.otherUAM. Departamento de Biología Moleculares_ES
dc.date.accessioned2020-04-15T10:16:15Z
dc.date.available2020-04-15T10:16:15Z
dc.date.issued2019-12-01
dc.identifier.citationTranslational Psychiatry 9 (2019): 55es_ES
dc.identifier.issn2158-3188
dc.identifier.urihttp://hdl.handle.net/10486/690755
dc.description.abstractRare 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 heritageen_US
dc.description.sponsorshipThis work was supported by grants from the International Society for Neurochemistry (ISN) and Alexander von Humboldt Foundation (to M.C.D.); Agencia Nacional de Promoción Científica y Tecnológica (PBIT/09 2013, PICT2015-0285 and PICT-2016-4647 to L.M.; PICT-2014-1537 to M.C.D.); GENMED Labex and JPND PERADES grant; and JPND EADB grant (German Federal Ministry of Education and Research, BMBF: 01ED1619A)en_US
dc.format.extent6 pag.en_US
dc.format.mimetypeapplication/pdfen
dc.language.isoengen
dc.publisherSpringer Nature
dc.relation.ispartofTranslational Psychiatryen_US
dc.rights© 2019, The Author(s)en_US
dc.subject.otherGenomicsen_US
dc.subject.otherAlzheimeren_US
dc.subject.otherTREM2en_US
dc.subject.otherPLCG2en_US
dc.subject.otherABI3en_US
dc.titleTransethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s diseaseen_US
dc.typearticleen
dc.subject.ecienciaBiología y Biomedicina / Biologíaes
dc.relation.publisherversionhttps://doi.org/10.1038/s41398-019-0394-9
dc.identifier.doi10.1038/s41398-019-0394-9
dc.identifier.publicationfirstpage55-1
dc.identifier.publicationissue9
dc.identifier.publicationlastpage55-6
dc.identifier.publicationvolume2919
dc.type.versioninfo:eu-repo/semantics/publishedVersionen
dc.rights.ccReconocimientoes_ES
dc.rights.accessRightsopenAccessen
dc.authorUAMBullido Gómez-Heras, María Jesús (260373)
dc.facultadUAMFacultad de Ciencias


Files in this item

Thumbnail
Name:
transethric_bullido_tp_2019.pdf
Size:
820.7Kb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record