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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
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 th...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355764/ https://www.ncbi.nlm.nih.gov/pubmed/30705288 http://dx.doi.org/10.1038/s41398-019-0394-9 |
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| author | Dalmasso, Maria Carolina Brusco, Luis Ignacio Olivar, Natividad Muchnik, Carolina Hanses, Claudia Milz, Esther Becker, Julian Heilmann-Heimbach, Stefanie Hoffmann, Per Prestia, Federico A. Galeano, Pablo Avalos, Mariana Soledad Sanchez Martinez, Luis Eduardo Carulla, Mariana Estela Azurmendi, Pablo Javier Liberczuk, Cynthia Fezza, Cristina Sampaño, Marcelo Fierens, Maria Jemar, Guillermo Solis, Patricia Medel, Nancy Lisso, Julieta Sevillano, Zulma Bosco, Paolo Bossù, Paola Spalletta, Gianfranco Galimberti, Daniela Mancuso, Michelangelo Nacmias, Benedetta Sorbi, Sandro Mecocci, Patrizia Pilotto, Alberto Caffarra, Paolo Panza, Francesco Bullido, Maria Clarimon, Jordi Sánchez-Juan, Pascual Coto, Eliecer Sanchez-Garcia, Florentino Graff, Caroline Ingelsson, Martin Bellenguez, Céline Castaño, Eduardo Miguel Kairiyama, Claudia Politis, Daniel Gustavo Kochen, Silvia Scaro, Horacio Maier, Wolfgang Jessen, Frank Mangone, Carlos Alberto Lambert, Jean-Charles Morelli, Laura Ramirez, Alfredo |
| author_facet | Dalmasso, Maria Carolina Brusco, Luis Ignacio Olivar, Natividad Muchnik, Carolina Hanses, Claudia Milz, Esther Becker, Julian Heilmann-Heimbach, Stefanie Hoffmann, Per Prestia, Federico A. Galeano, Pablo Avalos, Mariana Soledad Sanchez Martinez, Luis Eduardo Carulla, Mariana Estela Azurmendi, Pablo Javier Liberczuk, Cynthia Fezza, Cristina Sampaño, Marcelo Fierens, Maria Jemar, Guillermo Solis, Patricia Medel, Nancy Lisso, Julieta Sevillano, Zulma Bosco, Paolo Bossù, Paola Spalletta, Gianfranco Galimberti, Daniela Mancuso, Michelangelo Nacmias, Benedetta Sorbi, Sandro Mecocci, Patrizia Pilotto, Alberto Caffarra, Paolo Panza, Francesco Bullido, Maria Clarimon, Jordi Sánchez-Juan, Pascual Coto, Eliecer Sanchez-Garcia, Florentino Graff, Caroline Ingelsson, Martin Bellenguez, Céline Castaño, Eduardo Miguel Kairiyama, Claudia Politis, Daniel Gustavo Kochen, Silvia Scaro, Horacio Maier, Wolfgang Jessen, Frank Mangone, Carlos Alberto Lambert, Jean-Charles Morelli, Laura Ramirez, Alfredo |
| author_sort | Dalmasso, Maria Carolina |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6355764 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-63557642019-02-06 Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease Dalmasso, Maria Carolina Brusco, Luis Ignacio Olivar, Natividad Muchnik, Carolina Hanses, Claudia Milz, Esther Becker, Julian Heilmann-Heimbach, Stefanie Hoffmann, Per Prestia, Federico A. Galeano, Pablo Avalos, Mariana Soledad Sanchez Martinez, Luis Eduardo Carulla, Mariana Estela Azurmendi, Pablo Javier Liberczuk, Cynthia Fezza, Cristina Sampaño, Marcelo Fierens, Maria Jemar, Guillermo Solis, Patricia Medel, Nancy Lisso, Julieta Sevillano, Zulma Bosco, Paolo Bossù, Paola Spalletta, Gianfranco Galimberti, Daniela Mancuso, Michelangelo Nacmias, Benedetta Sorbi, Sandro Mecocci, Patrizia Pilotto, Alberto Caffarra, Paolo Panza, Francesco Bullido, Maria Clarimon, Jordi Sánchez-Juan, Pascual Coto, Eliecer Sanchez-Garcia, Florentino Graff, Caroline Ingelsson, Martin Bellenguez, Céline Castaño, Eduardo Miguel Kairiyama, Claudia Politis, Daniel Gustavo Kochen, Silvia Scaro, Horacio Maier, Wolfgang Jessen, Frank Mangone, Carlos Alberto Lambert, Jean-Charles Morelli, Laura Ramirez, Alfredo Transl Psychiatry Article 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. Nature Publishing Group UK 2019-01-31 /pmc/articles/PMC6355764/ /pubmed/30705288 http://dx.doi.org/10.1038/s41398-019-0394-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Article Dalmasso, Maria Carolina Brusco, Luis Ignacio Olivar, Natividad Muchnik, Carolina Hanses, Claudia Milz, Esther Becker, Julian Heilmann-Heimbach, Stefanie Hoffmann, Per Prestia, Federico A. Galeano, Pablo Avalos, Mariana Soledad Sanchez Martinez, Luis Eduardo Carulla, Mariana Estela Azurmendi, Pablo Javier Liberczuk, Cynthia Fezza, Cristina Sampaño, Marcelo Fierens, Maria Jemar, Guillermo Solis, Patricia Medel, Nancy Lisso, Julieta Sevillano, Zulma Bosco, Paolo Bossù, Paola Spalletta, Gianfranco Galimberti, Daniela Mancuso, Michelangelo Nacmias, Benedetta Sorbi, Sandro Mecocci, Patrizia Pilotto, Alberto Caffarra, Paolo Panza, Francesco Bullido, Maria Clarimon, Jordi Sánchez-Juan, Pascual Coto, Eliecer Sanchez-Garcia, Florentino Graff, Caroline Ingelsson, Martin Bellenguez, Céline Castaño, Eduardo Miguel Kairiyama, Claudia Politis, Daniel Gustavo Kochen, Silvia Scaro, Horacio Maier, Wolfgang Jessen, Frank Mangone, Carlos Alberto Lambert, Jean-Charles Morelli, Laura Ramirez, Alfredo Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title | Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title_full | Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title_fullStr | Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title_full_unstemmed | Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title_short | Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease |
| title_sort | transethnic meta-analysis of rare coding variants in plcg2, abi3, and trem2 supports their general contribution to alzheimer’s disease |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355764/ https://www.ncbi.nlm.nih.gov/pubmed/30705288 http://dx.doi.org/10.1038/s41398-019-0394-9 |
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