作者
Zhu Zhang, Haobo Li, Haoyi Weng, Geyu Zhou, Hong Chen, Guoru Yang, Ping Zhang, Xiangyan Zhang, Yingqun Ji, Kejing Ying, Bo Liu, Qixia Xu, Yongjun Tang, Guangfa Zhu, Zhihong Liu, Shuyue Xia, Xiaohong Yang, Lixia Dong, Ling Zhu, Mian Zeng, Yadong Yuan, Yuanhua Yang, Nuofu Zhang, Xiaomao Xu, Wenyi Pang, Meng Zhang, Yu Zhang, Kaiyuan Zhen, Dingyi Wang, Jieping Lei, Sinan Wu, Shi Shu, Yunxia Zhang, Shuai Zhang, Qian Gao, Qiang Huang, Chao Deng, Xi Fu, Gang Chen, Wenxin Duan, Jun Wan, Wanmu Xie, Peng Zhang, Shengfeng Wang, Peiran Yang, Xianbo Zuo, Zhenguo Zhai, Chen Wang, China pUlmonary Thromboembolism REgistry Study (CURES) investigators
发表日期
2023/4/19
期刊
BMC medicine
卷号
21
期号
1
页码范围
153
出版商
BioMed Central
简介
Background
A large proportion of pulmonary embolism (PE) heritability remains unexplained, particularly among the East Asian (EAS) population. Our study aims to expand the genetic architecture of PE and reveal more genetic determinants in Han Chinese.
Methods
We conducted the first genome-wide association study (GWAS) of PE in Han Chinese, then performed the GWAS meta-analysis based on the discovery and replication stages. To validate the effect of the risk allele, qPCR and Western blotting experiments were used to investigate possible changes in gene expression. Mendelian randomization (MR) analysis was employed to implicate pathogenic mechanisms, and a polygenic risk score (PRS) for PE risk prediction was generated.
Results
After meta-analysis of the discovery dataset (622 cases, 8853 controls) and replication dataset (646 cases, 8810 controls), GWAS identified 3 independent loci …
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