The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes

A variety of disorders are known to be related with aortic geometry, among them abdominal aortic aneurysm (AAA). This work aims to present the main determinants of abdominal aortic diameter in a new cohort of families at high risk of AAA. The Triple-A Genomic Analysis (TAGA) study comprises 407 indi...

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Autores: Peypoch, Olga, Paüls Vergés, Ferran, Vázquez Santiago, Miquel, Dilme, Jaime, Romero, Jose, Giner, Jordi, Plaza, Vicente, Roman Escudero, Jose, Soria, José Manuel, Camacho, Mercedes, Sabater Lleal, Maria
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/173949
Acceso en línea:https://hdl.handle.net/2445/173949
Access Level:acceso abierto
Palabra clave:Aneurismes aòrtics
Genètica
Aortic aneurysms
Genetics
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spelling The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate GenesPeypoch, OlgaPaüls Vergés, FerranVázquez Santiago, MiquelDilme, JaimeRomero, JoseGiner, JordiPlaza, VicenteRoman Escudero, JoseSoria, José ManuelCamacho, MercedesSabater Lleal, MariaAneurismes aòrticsGenèticaAortic aneurysmsGeneticsA variety of disorders are known to be related with aortic geometry, among them abdominal aortic aneurysm (AAA). This work aims to present the main determinants of abdominal aortic diameter in a new cohort of families at high risk of AAA. The Triple-A Genomic Analysis (TAGA) study comprises 407 individuals related in 12 families. Each family was collected through a proband with AAA. We calculated heritability and genetic correlations between abdominal aortic diameter and clinical parameters. A genome-wide linkage scan was performed based on 4.6 million variants. A predictive model was calculated with conditional forest. Heritability of the abdominal aortic diameter was 34%. Old age, male sex, higher height, weight, creatinine levels in serum, and better lung capacity were the best predictors of aortic diameter. Linkage analyses suggested the implication of Epidermal Growth Factor Receptor (EGFR) and Betacellulin (BTC) genes with aortic diameter. This is the first study to evaluate genetic components of variation of the aortic diameter in a population of AAA high-risk individuals. These results reveal EGFR, a gene that had been previously implicated in AAA, as a determinant of aortic diameter variation in healthy genetically enriched individuals, and might indicate that a common genetic background could determine the diameter of the aorta and future risk of AAA.MDPI2021202120202021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion19 p.application/pdfhttps://hdl.handle.net/2445/173949Articles publicats en revistes (ISGlobal)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: http://dx.doi.org/10.3390/jcm9041242Journal of Clinical Medicine, 2020, vol. 9, num. 4http://dx.doi.org/ 10.3390/jcm9041242cc by (c) Peypoch et al., 2020http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1739492026-05-29T05:05:01Z
dc.title.none.fl_str_mv The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
title The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
spellingShingle The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
Peypoch, Olga
Aneurismes aòrtics
Genètica
Aortic aneurysms
Genetics
title_short The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
title_full The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
title_fullStr The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
title_full_unstemmed The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
title_sort The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
dc.creator.none.fl_str_mv Peypoch, Olga
Paüls Vergés, Ferran
Vázquez Santiago, Miquel
Dilme, Jaime
Romero, Jose
Giner, Jordi
Plaza, Vicente
Roman Escudero, Jose
Soria, José Manuel
Camacho, Mercedes
Sabater Lleal, Maria
author Peypoch, Olga
author_facet Peypoch, Olga
Paüls Vergés, Ferran
Vázquez Santiago, Miquel
Dilme, Jaime
Romero, Jose
Giner, Jordi
Plaza, Vicente
Roman Escudero, Jose
Soria, José Manuel
Camacho, Mercedes
Sabater Lleal, Maria
author_role author
author2 Paüls Vergés, Ferran
Vázquez Santiago, Miquel
Dilme, Jaime
Romero, Jose
Giner, Jordi
Plaza, Vicente
Roman Escudero, Jose
Soria, José Manuel
Camacho, Mercedes
Sabater Lleal, Maria
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Aneurismes aòrtics
Genètica
Aortic aneurysms
Genetics
topic Aneurismes aòrtics
Genètica
Aortic aneurysms
Genetics
description A variety of disorders are known to be related with aortic geometry, among them abdominal aortic aneurysm (AAA). This work aims to present the main determinants of abdominal aortic diameter in a new cohort of families at high risk of AAA. The Triple-A Genomic Analysis (TAGA) study comprises 407 individuals related in 12 families. Each family was collected through a proband with AAA. We calculated heritability and genetic correlations between abdominal aortic diameter and clinical parameters. A genome-wide linkage scan was performed based on 4.6 million variants. A predictive model was calculated with conditional forest. Heritability of the abdominal aortic diameter was 34%. Old age, male sex, higher height, weight, creatinine levels in serum, and better lung capacity were the best predictors of aortic diameter. Linkage analyses suggested the implication of Epidermal Growth Factor Receptor (EGFR) and Betacellulin (BTC) genes with aortic diameter. This is the first study to evaluate genetic components of variation of the aortic diameter in a population of AAA high-risk individuals. These results reveal EGFR, a gene that had been previously implicated in AAA, as a determinant of aortic diameter variation in healthy genetically enriched individuals, and might indicate that a common genetic background could determine the diameter of the aorta and future risk of AAA.
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/173949
url https://hdl.handle.net/2445/173949
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: http://dx.doi.org/10.3390/jcm9041242
Journal of Clinical Medicine, 2020, vol. 9, num. 4
http://dx.doi.org/ 10.3390/jcm9041242
dc.rights.none.fl_str_mv cc by (c) Peypoch et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Peypoch et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 19 p.
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Articles publicats en revistes (ISGlobal)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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