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Article

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

1
Servicios Mancomunados de Angiología, Cirugía Vascular y Endovascular, Hospitales de la Santa Creu i Sant Pau/Dos de Mayo, 08025 Barcelona, Spain
2
Genomics of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), 08041 Barcelona, Spain
3
Universitat Autonoma de Barcelona, (IIB Sant Pau), 08025 Barcelona, Spain
4
ISGlobal, Hospital Clínic-Universitat de Barcelona, 08036 Barcelona, Spain
5
Department of Respiratory Medicine, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain
6
Angiology, Vascular Biology and Inflammation Laboratory, Research Institute of Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), 08041 Barcelona, Spain
7
Cardiovascular Medicine Unit, Department of Medicine, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, 17176 Stockholm, Sweden
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Clin. Med. 2020, 9(4), 1242; https://doi.org/10.3390/jcm9041242
Received: 17 March 2020 / Revised: 17 April 2020 / Accepted: 21 April 2020 / Published: 24 April 2020
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. View Full-Text
Keywords: abdominal aortic diameter; aneurysm; AAA; linkage analysis; genetics; risk factors; Epidermal Growth Factor Receptor; EGFR abdominal aortic diameter; aneurysm; AAA; linkage analysis; genetics; risk factors; Epidermal Growth Factor Receptor; EGFR
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MDPI and ACS Style

Peypoch, O.; Paüls-Vergés, F.; Vázquez-Santiago, M.; Dilme, J.; Romero, J.; Giner, J.; Plaza, V.; Escudero, J.R.; Soria, J.M.; Camacho, M.; Sabater-Lleal, M. The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes. J. Clin. Med. 2020, 9, 1242. https://doi.org/10.3390/jcm9041242

AMA Style

Peypoch O, Paüls-Vergés F, Vázquez-Santiago M, Dilme J, Romero J, Giner J, Plaza V, Escudero JR, Soria JM, Camacho M, Sabater-Lleal M. The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes. Journal of Clinical Medicine. 2020; 9(4):1242. https://doi.org/10.3390/jcm9041242

Chicago/Turabian Style

Peypoch, Olga, Ferran Paüls-Vergés, Miquel Vázquez-Santiago, Jaime Dilme, Jose Romero, Jordi Giner, Vicente Plaza, Jose Roman Escudero, Jose Manuel Soria, Mercedes Camacho, and Maria Sabater-Lleal. 2020. "The TAGA Study: A Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes" Journal of Clinical Medicine 9, no. 4: 1242. https://doi.org/10.3390/jcm9041242

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