布达佩斯全球研究(双胞胎动脉粥样硬化斑块负担研究——基因位点与动脉粥样硬化病变负担)的基本原理、设计及方法学方面
Rationale, Design, and Methodological Aspects of the BUDAPEST-GLOBAL Study (Burden of Atherosclerotic Plaques Study in Twins-Genetic Loci and the Burden of Atherosclerotic Lesions).
作者信息
Maurovich-Horvat Pál, Tárnoki Dávid L, Tárnoki Ádám D, Horváth Tamás, Jermendy Ádám L, Kolossváry Márton, Szilveszter Bálint, Voros Viktor, Kovács Attila, Molnár Andrea Á, Littvay Levente, Lamb Hildo J, Voros Szilard, Jermendy György, Merkely Béla
机构信息
MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.
出版信息
Clin Cardiol. 2015 Dec;38(12):699-707. doi: 10.1002/clc.22482. Epub 2015 Oct 23.
The heritability of coronary atherosclerotic plaque burden, coronary geometry, and phenotypes associated with increased cardiometabolic risk are largely unknown. The primary aim of the Burden of Atherosclerotic Plaques Study in Twins-Genetic Loci and the Burden of Atherosclerotic Lesions (BUDAPEST-GLOBAL) study is to evaluate the influence of genetic and environmental factors on the burden of coronary artery disease. By design this is a prospective, single-center, classical twin study. In total, 202 twins (61 monozygotic pairs, 40 dizygotic same-sex pairs) were enrolled from the Hungarian Twin Registry database. All twins underwent non-contrast-enhanced computed tomography (CT) for the detection and quantification of coronary artery calcium and for the measurement of epicardial fat volumes. In addition, a single non-contrast-enhanced image slice was acquired at the level of L3-L4 to assess abdominal fat distribution. Coronary CT angiography was used for the detection and quantification of plaque, stenosis, and overall coronary artery disease burden. For the primary analysis, we will assess the presence and volume of atherosclerotic plaques. Furthermore, the 3-dimensional coronary geometry will be assessed based on the coronary CT angiography datasets. Additional phenotypic analyses will include per-patient epicardial and abdominal fat quantity measurements. Measurements obtained from monozygotic and dizygotic twin pairs will be compared to evaluate the genetic or environmental effects of the given phenotype. The BUDAPEST-GLOBAL study provides a unique framework to shed some light on the genetic and environmental influences of cardiometabolic disorders.
冠状动脉粥样硬化斑块负荷、冠状动脉几何形状以及与心脏代谢风险增加相关的表型的遗传力在很大程度上尚不清楚。双胞胎遗传位点动脉粥样硬化斑块负担和动脉粥样硬化病变负担研究(BUDAPEST-GLOBAL)的主要目的是评估遗传和环境因素对冠状动脉疾病负担的影响。按照设计,这是一项前瞻性、单中心的经典双胞胎研究。总共从匈牙利双胞胎登记数据库中招募了202对双胞胎(61对同卵双胞胎,40对同性异卵双胞胎)。所有双胞胎都接受了非增强计算机断层扫描(CT),以检测和量化冠状动脉钙化并测量心外膜脂肪体积。此外,在L3-L4水平获取了一张非增强图像切片,以评估腹部脂肪分布。冠状动脉CT血管造影用于检测和量化斑块、狭窄以及整体冠状动脉疾病负担。对于主要分析,我们将评估动脉粥样硬化斑块的存在和体积。此外,将基于冠状动脉CT血管造影数据集评估三维冠状动脉几何形状。额外的表型分析将包括每位患者的心外膜和腹部脂肪量测量。将比较从同卵和异卵双胞胎对获得的测量结果,以评估给定表型的遗传或环境影响。BUDAPEST-GLOBAL研究提供了一个独特的框架,以阐明心脏代谢紊乱的遗传和环境影响。