Nature Communications (Nov 2023)
Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy
- Caibo Ning,
- Linyun Fan,
- Meng Jin,
- Wenji Wang,
- Zhiqiang Hu,
- Yimin Cai,
- Liangkai Chen,
- Zequn Lu,
- Ming Zhang,
- Can Chen,
- Yanmin Li,
- Fuwei Zhang,
- Wenzhuo Wang,
- Yizhuo Liu,
- Shuoni Chen,
- Yuan Jiang,
- Chunyi He,
- Zhuo Wang,
- Xu Chen,
- Hanting Li,
- Gaoyuan Li,
- Qianying Ma,
- Hui Geng,
- Wen Tian,
- Heng Zhang,
- Bo Liu,
- Qing Xia,
- Xiaojun Yang,
- Zhongchun Liu,
- Bin Li,
- Ying Zhu,
- Xiangpan Li,
- Shaoting Zhang,
- Jianbo Tian,
- Xiaoping Miao
Affiliations
- Caibo Ning
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Linyun Fan
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Meng Jin
- Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
- Wenji Wang
- SenseTime Research
- Zhiqiang Hu
- SenseTime Research
- Yimin Cai
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Liangkai Chen
- Department of Nutrition and Food Hygiene, Hubei Key Laboratory of Food Nutrition and Safety, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology
- Zequn Lu
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Ming Zhang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Can Chen
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Yanmin Li
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Fuwei Zhang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Wenzhuo Wang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Yizhuo Liu
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Shuoni Chen
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Yuan Jiang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Chunyi He
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Zhuo Wang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Xu Chen
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Hanting Li
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Gaoyuan Li
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Qianying Ma
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Hui Geng
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Wen Tian
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Heng Zhang
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Bo Liu
- Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
- Qing Xia
- SenseTime Research
- Xiaojun Yang
- Department of Gastrointestinal Surgery, Zhongnan Hospital of Wuhan University, Wuhan University
- Zhongchun Liu
- Department of Psychiatry, Renmin Hospital of Wuhan University
- Bin Li
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Ying Zhu
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Xiangpan Li
- Department of Radiation Oncology, Renmin Hospital of Wuhan University
- Shaoting Zhang
- SenseTime Research
- Jianbo Tian
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- Xiaoping Miao
- Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University
- DOI
- https://doi.org/10.1038/s41467-023-43771-5
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 15
Abstract
Abstract Left ventricular regional wall thickness (LVRWT) is an independent predictor of morbidity and mortality in cardiovascular diseases (CVDs). To identify specific genetic influences on individual LVRWT, we established a novel deep learning algorithm to calculate 12 LVRWTs accurately in 42,194 individuals from the UK Biobank with cardiac magnetic resonance (CMR) imaging. Genome-wide association studies of CMR-derived 12 LVRWTs identified 72 significant genetic loci associated with at least one LVRWT phenotype (P < 5 × 10−8), which were revealed to actively participate in heart development and contraction pathways. Significant causal relationships were observed between the LVRWT traits and hypertrophic cardiomyopathy (HCM) using genetic correlation and Mendelian randomization analyses (P < 0.01). The polygenic risk score of inferoseptal LVRWT at end systole exhibited a notable association with incident HCM, facilitating the identification of high-risk individuals. The findings yield insights into the genetic determinants of LVRWT phenotypes and shed light on the biological basis for HCM etiology.
