Peypoch Olga, Paüls-Vergés Ferran, Vázquez-Santiago Miquel, Dilme Jaime, Romero Jose, Giner Jordi, Plaza Vicente, Escudero Jose Roman, Soria Jose Manuel, Camacho Mercedes, Sabater-Lleal Maria
Servicios Mancomunados de Angiología, Cirugía Vascular y Endovascular, Hospitales de la Santa Creu i Sant Pau/Dos de Mayo, 08025 Barcelona, Spain.
Genomics of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), 08041 Barcelona, Spain.
J Clin Med. 2020 Apr 24;9(4):1242. doi: 10.3390/jcm9041242.
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 and 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 , 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.
已知多种疾病与主动脉几何形态有关，其中包括腹主动脉瘤（AAA）。这项研究旨在揭示AAA高风险新家族队列中腹主动脉直径的主要决定因素。三A基因组分析（TAGA）研究包含了12个家族的407名亲属。每个家族均通过一名患有AAA的先证者进行招募。我们计算了腹主动脉直径与临床参数之间的遗传力和遗传相关性。基于460万个变异进行了全基因组连锁扫描。使用条件森林计算了预测模型。腹主动脉直径的遗传力为34%。老年、男性、较高的身高、体重、血清肌酐水平以及较好的肺功能是主动脉直径的最佳预测因素。连锁分析表明 和 基因与主动脉直径有关。这是第一项评估AAA高风险个体群体中主动脉直径变异遗传成分的研究。这些结果揭示了 基因（该基因先前已被证明与AAA有关）是健康遗传富集个体中主动脉直径变异的一个决定因素，并且可能表明一个共同的遗传背景可以决定主动脉直径以及未来患AAA的风险。
