The TAGA Study

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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Detalles Bibliográficos
Autores: Peypoch, Olga|||0000-0002-9795-5553, Paüls-Vergés, Ferran, Vázquez-Santiago, Miquel|||0000-0002-9432-4297, Dilmé, Jaume|||0000-0003-0127-0064, Romero, José, Giner, Jordi|||0000-0002-3044-2059, Plaza, Vicente|||0000-0003-2567-5496, Escudero, José Román|||0000-0003-3929-6403, Soria Fernández, José Manuel|||0000-0002-6226-4293, Camacho, Mercedes|||0000-0001-5970-3294, Sabater-Lleal, Maria|||0000-0002-0128-379X
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:241242
Acceso en línea:https://ddd.uab.cat/record/241242
https://dx.doi.org/urn:doi:10.3390/jcm9041242
Access Level:acceso abierto
Palabra clave:Abdominal aortic diameter
Aneurysm
AAA
Linkage analysis
Genetics
Risk factors
Epidermal Growth Factor Receptor
EGFR
Descripción
Sumario: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.

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