Fig. 4: Heart and aorta-related associations and heart-brain connections.

A Graphical illustration of 8 CMR traits of left ventricle (LV) associated with TTN. LVESV, left ventricular end-systolic volume; LVEF, left ventricular ejection fraction; and Ecc, peak circumferential strain, including both global (“Global”) and regional traits (such as “AHA_9”). B Five genes (ANO1, COL21A1, GEM, PLCE1, and TAGLN) associated with ascending aorta and descending aorta areas. PLCE1 was also associated with brain fMRI traits. Three ICA-based functional activity traits (Net25_Node3, Net25_Node5, and Net25_Node9) associated with PLCE1 are illustrated, with their major brain regions and networks labeled. The color represents the weight profile of the ICA node. In addition, COL21A1 was associated with cerebrospinal fluid volume. C [Top]: original effect sizes (in percentage; circles) and the corresponding 95% confidence intervals (bars) of TTN on different regional peak circumferential strain measurements (N = 48,948 individuals for AHA_9; 48,948 individuals for AHA_13; 48,940 individuals for AHA_14; 48,943 individuals for AHA_15; 48,947 individuals for AHA_16) and a global peak circumferential strain measurement (N = 48,934 individuals). [Bottom left]: absolute values of original effect sizes (in mm²; circles) and the corresponding 95% confidence intervals (bars) of ANO1, COL21A1 and GEM on ascending aorta maximum and minimum area (N = 48,132 for ascending aorta maximum area and N = 48,135 for ascending aorta minimum area); we use ‘+’ to indicate the positive effects and ‘-’ to indicate the negative effects. [Bottom right]: absolute values of original effect sizes (in mm²; circles) and the corresponding 95% confidence intervals (bars) of PLCE1 and TAGLN on descending aorta maximum and minimum area (N = 48,143 for ascending aorta maximum area and N = 48,150 for ascending aorta minimum area). Association between TAGLN and descending aorta maximum area was among the suggestive results (Supplementary Data S8).