ArticleeLife2025
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.
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Article in eLife, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
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Who cites it
5 citing papers in PubMed.
- Genetic interaction betweenbioRxiv : the preprint server for biology · 2026Article
- Genetic interaction betweenResearch square · 2026Article
- The Role of Eph/Ephrin-Driven Actomyosin Contractility in Promoting Cell Segregation and Boundary Formation.International journal of molecular sciences · 2026Review
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.eLife · 2025Article
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Authors and funding
39 authors.
Lianlei Wang *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Xinyu Yang *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.ORCID https://orcid.org/0009-0002-6706-9857
Sen Zhao *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Pengfei Zheng *Institute of Evolution & Marine Biodiversity, College of Marine Life Science, Ocean University of China, Qingdao, China.ORCID https://orcid.org/0000-0002-8729-0850
Wen WenDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.ORCID https://orcid.org/0000-0003-4858-8037
Kexin XuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Xi ChengDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Qing LiDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Anas M KhanshourCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, United States.
Yoshinao KoikeLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0002-5431-5572
Junjun LiuInstitute of Evolution & Marine Biodiversity, College of Marine Life Science, Ocean University of China, Qingdao, China.
Xin FanDepartment of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Nao OtomoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Zefu ChenDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yaqi LiDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Lulu LiDepartment of Newborn Screening Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Haibo XieInstitute of Evolution & Marine Biodiversity, College of Marine Life Science, Ocean University of China, Qingdao, China.
Panpan ZhuInstitute of Evolution & Marine Biodiversity, College of Marine Life Science, Ocean University of China, Qingdao, China.
Xiaoxin LiDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yuchen NiuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Shengru WangDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Sen LiuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Suomao YuanDepartment of Orthopaedic Surgery, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, China.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID https://orcid.org/0000-0002-6452-4095
Ziquan LiDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Shaoke ChenDepartment of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Xiuli ZhaoDepartment of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-8238-6311
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Jennifer E PoseyBaylor Genetics, Houston, United States.
Zhihong WuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Guixing QiuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
DISCO study group (Deciphering Disorders Involving Scoliosis & COmorbidities)
Shiro IkegawaLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
James R LupskiDepartments of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, United States.
Jonathan J RiosCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, United States.ORCID https://orcid.org/0000-0002-0969-2184
Carol A WiseCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, United States.ORCID https://orcid.org/0000-0002-6790-2194
Jianguo T ZhangDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Chengtian ZhaoInstitute of Evolution & Marine Biodiversity, College of Marine Life Science, Ocean University of China, Qingdao, China.ORCID https://orcid.org/0000-0003-1236-914X
Nan WuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.ORCID https://orcid.org/0000-0002-9429-2889
Funding
Chinese Academy of Medical Sciences Initiative for Innovative Medicine 2020-I2M-C&T-B-030Chinese Academy of Medical Sciences Initiative for Innovative Medicine 2021-I2M-1-051Chinese Academy of Medical Sciences Initiative for Innovative Medicine 2021-I2M-1-052Gabriella Miller Kids First Program grant X01 HL132375-01A1National High Level Hospital Clinical Research Funding 2022-PUMCH-C-033National High Level Hospital Clinical Research Funding 2022-PUMCH-D-004National Key Research and Development Program of China 2023YFC2509700National Natural Science Foundation of China 31991194 & 32125015National Natural Science Foundation of China 81822030National Natural Science Foundation of China 82102522National Natural Science Foundation of China 82172382Natural Science Foundation of Beijing Municipality 7222133Natural Science Foundation of Shandong Province ZR202102210113Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences No. 2019PT320025
Abstract
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we first reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candidate genes using either location-based or function-based strategies. To further substantiate our findings, we verified the enrichment of variants within these candidate genes across several large IS cohorts encompassing Chinese, East Asian, and European populations. Consequently, we identified variants in the
Indexed as
LocomotionReceptor, EphA4ScoliosisSignal TransductionZebrafish ProteinsAnimalsHumansMutationZebrafishReceptor, EphA4Zebrafish Proteinscentral pattern generatorsEPHA4geneticsgenomicshumanidiopathic scoliosismedicinepathogenesiszebrafish
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.