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Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy

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收录情况： ◇ SCIE ◇ 自然指数

作者：
Ning Caibo[1,2,3] * ; Fan Linyun[1,2,3] * ; Jin Meng[4] * ; Wang Wenji[5] * ; Hu Zhiqiang[5] * ; Cai Yimin[1] * ; Chen Liangkai[6] * ; Lu Zequn[1] ; Zhang Ming[1] ; Chen Can[1] ; Li Yanmin[1] ; Zhang Fuwei[1] ; Wang Wenzhuo[1] ; Liu Yizhuo[1] ; Chen Shuoni[1] ; Jiang Yuan[1] ; He Chunyi[1] ; Wang Zhuo[1] ; Chen Xu[1] ; Li Hanting[1] ; Li Gaoyuan[1] ; Ma Qianying[1] ; Geng Hui[1] ; Tian Wen[1] ; Zhang Heng[1] ; Liu Bo[4] ; Xia Qing[5] ; Yang Xiaojun[7] ; Liu Zhongchun[8] ; Li Bin[1] ; Zhu Ying[1,2,3,9] ; Li Xiangpan[2] ; Zhang Shaoting[5,10] ; Tian Jianbo[1,2,3,9] ; Miao Xiaoping[1,2,3,9] ;
单位： [1]Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University, Wuhan, 430071, China. [2]Department of Radiation Oncology, Renmin Hospital of Wuhan University, Wuhan, 430071, China. [3]Department of Gastrointestinal Oncology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China. [4]Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. [5]SenseTime Research, Shanghai, 201103, China. [6]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, Wuhan, 430030, China. [7]Department of Gastrointestinal Surgery, Zhongnan Hospital of Wuhan University, Wuhan University, Wuhan, 430071, China. [8]Department of Psychiatry, Renmin Hospital of Wuhan University, Wuhan, 430071, China. [9]TaiKang Center for Life and Medical Sciences, Wuhan University, Wuhan, 430071, China. [10]Shanghai Artificial Intelligence Laboratory, Shanghai, 200232, China.
出处：
DOI： 10.1038/s41467-023-43771-5
ISSN：

摘要：
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.© 2023. The Author(s).

基金：
This work was supported by National Science Fund for Excellent Young Scholars (NSFC-82322058), Program of National Natural Science Foundation of China (NSFC-82103929, NSFC-82273713), Young Elite Scientists Sponsorship Program by CAST (2022QNRC001), National Science Fund for Distinguished Young Scholars of Hubei Province of China (2023AFA046), Fundamental Research Funds for the Central Universities (WHU:2042022kf1205) and Knowledge Innovation Program of Wuhan (whkxjsj011, 2023020201010073) for J.T.; National Science Fund for Distinguished Young Scholars of China (NSFC-81925032), Key Program of National Natural Science Foundation of China (NSFC- 82130098), the Leading Talent Program of the Health Commission of Hubei Province, Knowledge Innovation Program of Wuhan (2023020201010060) and Fundamental Research Funds for the Central Universities (2042022rc0026, 2042023kf1005) for X.M.; the Beijing Nova Program (Z201100006820064, Z211100002121165).
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外文
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出版当年[2022]版：
大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
最新[2025]版：
大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
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出版当年[2021]版：
Q1 MULTIDISCIPLINARY SCIENCES
最新[2023]版：
Q1 MULTIDISCIPLINARY SCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者单位： [1]Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University, Wuhan, 430071, China. [2]Department of Radiation Oncology, Renmin Hospital of Wuhan University, Wuhan, 430071, China. [3]Department of Gastrointestinal Oncology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
共同第一作者：
通讯作者：
通讯机构： [1]Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University, Wuhan, 430071, China. [2]Department of Radiation Oncology, Renmin Hospital of Wuhan University, Wuhan, 430071, China. [3]Department of Gastrointestinal Oncology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China. [5]SenseTime Research, Shanghai, 201103, China. [9]TaiKang Center for Life and Medical Sciences, Wuhan University, Wuhan, 430071, China. [10]Shanghai Artificial Intelligence Laboratory, Shanghai, 200232, China.
推荐引用方式(GB/T 7714)：
Ning Caibo,Fan Linyun,Jin Meng,et al.Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy[J].NATURE COMMUNICATIONS.2023,14(1):7900.doi:10.1038/s41467-023-43771-5.
APA：
Ning Caibo,Fan Linyun,Jin Meng,Wang Wenji,Hu Zhiqiang...&Miao Xiaoping.(2023).Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.NATURE COMMUNICATIONS,14,(1)
MLA：
Ning Caibo,et al."Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy".NATURE COMMUNICATIONS 14..1(2023):7900

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