ArticleCommunications biology2025
Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.
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Article in Communications biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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9citing papers in PubMed, 1 pooled it
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9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association between elevated plasma levels of factor VIII and risk of recurrent venous thromboembolism: a systematic review and meta-analysis.Journal of thrombosis and thrombolysis · 2026Pooled it
- Article
- Clonal Hematopoiesis in Cardiovascular Risk: Focus on Inflammatory Mechanisms.Journal of clinical medicine · 2026Review
- Blood coagulation factors and risk of venous thromboembolism: a population-based study.European journal of medical research · 2026Article
- Association between triglyceride glucose- systemic immune inflammation index and deep venous thrombosis in fresh fracture patient: a real-world retrospective study.Frontiers in endocrinology · 2026Article
- Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study.The Lancet regional health. Western Pacific · 2026Article
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- Genetic Susceptibility in Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease: A Case-Control Study.International journal of molecular sciences · 2025Article
- Recent Advances in Gene Therapy for Hemophilia.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisReview
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Authors and funding
38 authors.
Zhu Zhang *National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Haobo Li *National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.ORCID http://orcid.org/0000-0002-1882-5831
Zhaoman Wan *State Key Laboratory of Common Mechanism Research for Major Diseases, Suzhou Institute of Systems Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Suzhou, Jiangsu, China.
Mingming Su *Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.
Yu Zhang *National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Tao Yang *Department of Vascular Surgery, Shanxi Bethune Hospital, Shanxi, China.
Xiaofan JiNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Jianlong MenPrecision Medicine Center, Tianjin Medical University General Hospital, Tianjin, China.
Guoqiang XingDepartment of Pulmonary and Critical Care Medicine, Zibo First Hospital, Zibo, Shandong, China.
Jing HanDepartment of Pulmonary and Critical Care Medicine, Guizhou Provincial People's Hospital, Guiyang, Guizhou, China.
Yingqun JiDepartment of Pulmonary and Critical Care Medicine, Shanghai East Hospital, Tongji University, Shanghai, China.
Wei ZhangDepartment of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Second Military Medical University, Shanghai, China.
Hong ChenDepartment of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Xiaomao XuDepartment of Pulmonary and Critical Care Medicine, Beijing Hospital, Beijing, China.
Jianwen FeiDepartment of Pulmonary and Critical Care Medicine, Yantaishan Hospital, Yantai, Shandong, China.
Chunling DongDepartment of Pulmonary and Critical Care Medicine, Second Hospital, Jilin University, Jilin, China.
Yuanhua YangDepartment of Pulmonary and Critical Care Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.
Yan WuDepartment of Respiratory and Critical Care Medicine, Wuxi People's Hospital Affiliated to Nanjing, Wuxi, Jiangsu, China.
Qun YiDepartment of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Wenyi PangDepartment of Pulmonary and Critical Care Medicine, Beijing Jishuitan Hospital, Beijing, China.
Meng ZhangDepartment of Pulmonary and Critical Care Medicine, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Chong ShiBeijing University of Chinese Medicine, China-Japan Friendship School of Clinical Medicine, Beijing, China.
Kaiyuan ZhenNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Dingyi WangNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Clinical research and Data management, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Jieping LeiNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Clinical research and Data management, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Sinan WuNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Clinical research and Data management, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Shi ShuNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Yunxia ZhangNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Shuai ZhangNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Qian GaoNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Jun WanDepartment of Pulmonary and Critical Care Medicine, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Wanmu XieNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Peiran YangState Key Laboratory of Respiratory Health and Multimorbidity, Department of Physiology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College; National Center for Respiratory Medicine; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; National Clinical Research Center for Respiratory Diseases, Beijing, China.
Peng ZhangBeijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID http://orcid.org/0000-0002-6218-1885
Xianbo ZuoDepartment of Dermatology, China-Japan Friendship Hospital, Beijing, China. zuoxianbo@qq.com.ORCID http://orcid.org/0000-0002-0212-2664
Taijiao JiangState Key Laboratory of Respiratory Disease, The Key laboratory of Advanced Interdisciplinary Studies Center, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China. jiang_taijiao@gzlab.ac.cn.ORCID http://orcid.org/0009-0007-0841-3888
Zhenguo ZhaiNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China. zhaizhenguo2011@126.com.ORCID http://orcid.org/0000-0002-7096-8792
Chen WangNational Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China.
Funding
Beijing Nova Program Z211100002121057Chinese Academy of Medical Sciences (CAMS) 2021-I2M-1-061National Natural Science Foundation of China (National Science Foundation of China) 82241029National Natural Science Foundation of China (National Science Foundation of China) 82470046,82100065Peking Union Medical College (PUMC) APL24102010010302007
Abstract
Genetic factors play a pivotal role in determining venous thromboembolism (VTE) risk, particularly in cases of unprovoked early-onset VTE and those with a family history. While genome-wide association studies (GWAS) has advanced our understanding, high-quality whole-genome sequencing (WGS) from family-based studies is essential to elucidate the role of rare variants. In this study, we performed WGS on 216 individuals from 35 Han Chinese VTE pedigrees and validated findings in 99 high-heritability VTE cases using whole-exome sequencing. Functional impact was assessed via qPCR and Western Blot in HEK293T cells. Classical genes explained partial familial inheritance (20/35), while non-classical genes showed comparable effects on VTE recurrence and CTEPH. From 36 rare variants, 34 pedigrees (97%) were interpreted, with 29 variants reported for the first time. Notably, three novel variants, GP6 (c.G1094A:p.R365H), TET2 (c.G3451T:p.E1151X), and JAK2 (c.G380A:p.G127D), shared in two unrelated pedigrees each and are classified as low frequency in East Asians. Functional analyses revealed significant changes in GP6 and TET2 expression compared to the wild type. These findings provide novel insights into the genetic architecture of VTE and highlight GP6, TET2, and JAK2 as potential risk factors in East Asian populations, underscoring the clinical relevance of rare variants in VTE pathogenesis.
Indexed as
East Asian PeopleGenetic Predisposition to DiseaseGenetic VariationVenous ThromboembolismWhole Genome SequencingAdultAgedChinaFemaleGenome-Wide Association StudyHEK293 CellsHumansJanus Kinase 2MaleMiddle AgedPedigreeJAK2 protein, humanJanus Kinase 2
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