The TAGA Study : a Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
| Autor: | José Manuel Soria, Jaime Félix Dilmé, Mercedes Camacho, José María Romero, Maria Sabater-Lleal, Ferran Paüls-Vergés, Vicente Plaza, José Román Escudero, Miquel Vázquez-Santiago, Jordi Giner, Olga Peypoch |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Proband
Candidate gene haplotype geometry abdominal aortic diameter Aortic aneurysms genotype spirometry lcsh:Medicine genetic analysis Epidermal Growth Factor Receptor 030204 cardiovascular system & hematology heritability preschool child 0302 clinical medicine genetic linkage Abdominal aortic diameter Medicine risk factors genetics AAA DNA extraction 0303 health sciences education.field_of_study child genetic recombination adult creatinine General Medicine forced expiratory volume Abdominal aortic aneurysm endophenotype aged female risk factor Cardiology cardiovascular system body height bronchodilatation Aneurismes aòrtics cerebrovascular accident Linkage analysis medicine.medical_specialty phenotype EGFR Population electrocardiogram Article 03 medical and health sciences body weight Aneurysm abdominal aortic aneurysm male Genetic linkage Internal medicine medicine.artery genomics Genetics linkage analysis human quality control education 030304 developmental biology Aorta genome-wide association study business.industry lcsh:R dyslipidemia echography Heritability medicine.disease DNA isolation major clinical study aorta hypoglycemia Risk factors transient ischemic attack aneurysm business Genètica |
| Zdroj: | Journal of Clinical Medicine r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Journal of Clinical Medicine, Vol 9, Iss 1242, p 1242 (2020) Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Volume 9 Issue 4 Dipòsit Digital de la UB Universidad de Barcelona |
| ISSN: | 2077-0383 |
| Popis: | 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. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. |
| Databáze: | OpenAIRE |
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