英国伦敦帝国理工学院Declan P. ORegan和美国冷泉港实验室Hannah V. Meyer小组合作的最新研究，探究了心脏分形结构的功能和遗传学。相关论文于2020年8月19日在线发表在《自然》杂志上。
研究人员利用全基因组关联研究分析了英国生物银中18,096名参与者的小梁纤维束形态分形，揭示了小梁纤维束的图像衍生表型。研究人员确定了16个重要的基因座，其中包含与血流动力学表型和细胞骨架乔化调节相关的基因。利用生物力学模拟和对参与者的观察数据分析，研究人员证明了小梁纤维束的形态是心脏功能的重要决定因素。通过对心脏病表型的遗传关联研究和孟德尔随机化，研究人员发现小梁纤维束形态与心血管疾病风险之间存在因果关系。
这些发现揭示了心肌小梁在成年心脏性能中的未知功能，确定了调控结构复杂性的保守途径，并揭示了心肌小梁对心血管疾病易感性的影响。
研究人员表示，人心脏内表面被复杂的肌肉网络覆盖，人们认为这是胚胎发育的残留物。成人中这些小梁纤维束的功能及其遗传结构尚不清楚。
附：英文原文
Title: Genetic and functional insights into the fractal structure of the heart
Author: Hannah V. Meyer, Timothy J. W. Dawes, Marta Serrani, Wenjia Bai, Pawe Tokarczuk, Jiashen Cai, Antonio de Marvao, Albert Henry, R. Thomas Lumbers, Jakob Gierten, Thomas Thumberger, Joachim Wittbrodt, James S. Ware, Daniel Rueckert, Paul M. Matthews, Sanjay K. Prasad, Maria L. Costantino, Stuart A. Cook, Ewan Birney, Declan P. ORegan
Issue&Volume: 2020-08-19
Abstract: The inner surfaces of the human heart are covered by a complex network of muscular strands that is thought to be a remnant of embryonic development1,2. The function of these trabeculae in adults and their genetic architecture are unknown. Here we performed a genome-wide association study to investigate image-derived phenotypes of trabeculae using the fractal analysis of trabecular morphology in 18,096 participants of the UK Biobank. We identified 16 significant loci that contain genes associated with haemodynamic phenotypes and regulation of cytoskeletal arborization3,4. Using biomechanical simulations and observational data from human participants, we demonstrate that trabecular morphology is an important determinant of cardiac performance. Through genetic association studies with cardiac disease phenotypes and Mendelian randomization, we find a causal relationship between trabecular morphology and risk of cardiovascular disease. These findings suggest a previously unknown role for myocardial trabeculae in the function of the adult heart, identify conserved pathways that regulate structural complexity and reveal the influence of the myocardial trabeculae on susceptibility to cardiovascular disease. A genome-wide association study shows that myocardial trabeculae are an important determinant of cardiac performance in the adult heart, identifies conserved pathways that regulate structural complexity and reveals the influence of trabeculae on the susceptibility to cardiovascular disease.
DOI: 10.1038/s41586-020-2635-8
Source: https://www.nature.com/articles/s41586-020-2635-8
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
