Richard Burns, William J. Young, Nay Aung, Luis R. Lopes, Perry M. Elliott, Petros Syrris, Roberto Barriales-Villa, Catrin Sohrabi, Steffen E. Petersen, Julia Ramírez, Alistair Young, Patricia B. Munroe
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引用次数: 0
摘要
心脏形状捕捉了心脏结构的变异，而非传统的质量和体积表型。尽管观察性研究已证明心脏形状与心脏代谢风险因素和疾病有关，但对其遗传基础的了解却较少。我们利用 45,683 名英国生物库参与者的心血管磁共振图像，通过主成分（PC）分析，从双心室舒张末期表面网格模型中构建了心脏形状图谱。在前 11 个 PC 上进行了全基因组关联研究，这些 PC 捕获了 83.6% 的形状变异。我们发现了 43 个重要的基因位点，其中 14 个是以前未报道过的心脏特征位点。基因预测的 PC 与心脏代谢疾病相关。特别是两个 PCs（2 和 3）与球形心室更多与心房颤动风险增加有关。我们的研究利用 PCA 探索了多维双心室心脏形状的遗传基础，报告了新的基因位点和生物学特性，以及多基因风险评分，用于探索心脏形状与心脏代谢疾病的遗传关系。
Genetic basis of right and left ventricular heart shape
Heart shape captures variation in cardiac structure beyond traditional phenotypes of mass and volume. Although observational studies have demonstrated associations with cardiometabolic risk factors and diseases, its genetic basis is less understood. We utilised cardiovascular magnetic resonance images from 45,683 UK Biobank participants to construct a heart shape atlas from bi-ventricular end-diastolic surface mesh models through principal component (PC) analysis. Genome-wide association studies were performed on the first 11 PCs that captured 83.6% of shape variance. We identified 43 significant loci, 14 were previously unreported for cardiac traits. Genetically predicted PCs were associated with cardiometabolic diseases. In particular two PCs (2 and 3) linked with more spherical ventricles being associated with increased risk of atrial fibrillation. Our study explores the genetic basis of multidimensional bi-ventricular heart shape using PCA, reporting new loci and biology, as well as polygenic risk scores for exploring genetic relationships of heart shape with cardiometabolic diseases.
期刊介绍：
Nature Communications, an open-access journal, publishes high-quality research spanning all areas of the natural sciences. Papers featured in the journal showcase significant advances relevant to specialists in each respective field. With a 2-year impact factor of 16.6 (2022) and a median time of 8 days from submission to the first editorial decision, Nature Communications is committed to rapid dissemination of research findings. As a multidisciplinary journal, it welcomes contributions from biological, health, physical, chemical, Earth, social, mathematical, applied, and engineering sciences, aiming to highlight important breakthroughs within each domain.
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