Carolina Dalmasso, Maria, Ignacio Brusco, Luis, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Heilmann-Heimbach, Stefanie, Hoffmann, Per ORCID: 0000-0002-6573-983X, Prestia, Federico A., Galeano, Pablo, Sanchez Avalos, Mariana Soledad, Eduardo Martinez, Luis, Estela Carulla, Mariana, Javier Azurmendi, Pablo, Liberczuk, Cynthia, Fezza, Cristina, Sampano, Marcelo, Fierens, Maria, Jemar, Guillermo, Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Bosco, Paolo, Bossu, Paola, Spalletta, Gianfranco ORCID: 0000-0002-7432-4249, Galimberti, Daniela ORCID: 0000-0002-9284-5953, Mancuso, Michelangelo ORCID: 0000-0003-2738-8562, Nacmias, Benedetta, Sorbi, Sandro, Mecocci, Patrizia ORCID: 0000-0003-0729-5246, Pilotto, Alberto, Caffarra, Paolo, Panza, Francesco ORCID: 0000-0002-7220-0656, Bullido, Maria ORCID: 0000-0002-6477-1117, Clarimon, Jordi, Sanchez-Juan, Pascual, Coto, Eliecer, Sanchez-Garcia, Florentino, Graff, Caroline, Ingelsson, Martin, Bellenguez, Celine ORCID: 0000-0002-1240-7874, Miguel Castano, Eduardo, Kairiyama, Claudia, Gustavo Politis, Daniel, Kochen, Silvia, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Alberto Mangone, Carlos, Lambert, Jean-Charles, Morelli, Laura and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2019). Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease. Transl. Psychiatr., 9. NEW YORK: NATURE PUBLISHING GROUP. ISSN 2158-3188

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Carolina Dalmasso, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ignacio Brusco, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olivar, NatividadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muchnik, CarolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hanses, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milz, EstherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heilmann-Heimbach, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, PerUNSPECIFIEDorcid.org/0000-0002-6573-983XUNSPECIFIED
Prestia, Federico A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galeano, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez Avalos, Mariana SoledadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eduardo Martinez, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Estela Carulla, MarianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Javier Azurmendi, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liberczuk, CynthiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fezza, CristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sampano, MarceloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fierens, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jemar, GuillermoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Solis, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Medel, NancyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lisso, JulietaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sevillano, ZulmaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bosco, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bossu, PaolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spalletta, GianfrancoUNSPECIFIEDorcid.org/0000-0002-7432-4249UNSPECIFIED
Galimberti, DanielaUNSPECIFIEDorcid.org/0000-0002-9284-5953UNSPECIFIED
Mancuso, MichelangeloUNSPECIFIEDorcid.org/0000-0003-2738-8562UNSPECIFIED
Nacmias, BenedettaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sorbi, SandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mecocci, PatriziaUNSPECIFIEDorcid.org/0000-0003-0729-5246UNSPECIFIED
Pilotto, AlbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caffarra, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Panza, FrancescoUNSPECIFIEDorcid.org/0000-0002-7220-0656UNSPECIFIED
Bullido, MariaUNSPECIFIEDorcid.org/0000-0002-6477-1117UNSPECIFIED
Clarimon, JordiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez-Juan, PascualUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coto, EliecerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez-Garcia, FlorentinoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graff, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ingelsson, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellenguez, CelineUNSPECIFIEDorcid.org/0000-0002-1240-7874UNSPECIFIED
Miguel Castano, EduardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kairiyama, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gustavo Politis, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kochen, SilviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scaro, HoracioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maier, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jessen, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alberto Mangone, CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambert, Jean-CharlesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morelli, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramirez, AlfredoUNSPECIFIEDorcid.org/0000-0003-4991-763XUNSPECIFIED
URN: urn:nbn:de:hbz:38-158685
DOI: 10.1038/s41398-019-0394-9
Journal or Publication Title: Transl. Psychiatr.
Volume: 9
Date: 2019
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 2158-3188
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ASSOCIATIONMultiple languages
PsychiatryMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/15868

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