Frontiers in Cell and Developmental Biology (Nov 2021)
A Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles
- Leilei Xu,
- Leilei Xu,
- Zhenhua Feng,
- Zhenhua Feng,
- Zhicheng Dai,
- Zhicheng Dai,
- Wayne Y. W. Lee,
- Wayne Y. W. Lee,
- Wayne Y. W. Lee,
- Zhichong Wu,
- Zhichong Wu,
- Zhen Liu,
- Zhen Liu,
- Xu Sun,
- Xu Sun,
- Nelson Tang,
- Nelson Tang,
- Nelson Tang,
- Jack Chun-Yiu Cheng,
- Jack Chun-Yiu Cheng,
- Yong Qiu,
- Yong Qiu,
- Zezhang Zhu,
- Zezhang Zhu
Affiliations
- Leilei Xu
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Leilei Xu
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Zhenhua Feng
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Zhenhua Feng
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Zhicheng Dai
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Zhicheng Dai
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Wayne Y. W. Lee
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Wayne Y. W. Lee
- SH Ho Scoliosis Research Laboratory, Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, Hong Kong, China
- Wayne Y. W. Lee
- Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China
- Zhichong Wu
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Zhichong Wu
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Zhen Liu
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Zhen Liu
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Xu Sun
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Xu Sun
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Nelson Tang
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Nelson Tang
- SH Ho Scoliosis Research Laboratory, Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, Hong Kong, China
- Nelson Tang
- Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China
- Jack Chun-Yiu Cheng
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Jack Chun-Yiu Cheng
- SH Ho Scoliosis Research Laboratory, Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, Hong Kong, China
- Yong Qiu
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Yong Qiu
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- Zezhang Zhu
- Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China
- Zezhang Zhu
- Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing/Hong Kong, China
- DOI
- https://doi.org/10.3389/fcell.2021.777890
- Journal volume & issue
-
Vol. 9
Abstract
Previous studies have shown that LBX1 is associated with adolescent idiopathic scoliosis (AIS) in multiple populations. For the first time, rs1322330 located in the putative promoter region of LBX1 was found significantly associated with AIS in the Chinese population [p = 6.08 × 10–14, odds ratio (OR) = 1.42, 95% confidence interval of 1.03–1.55]. Moreover, the luciferase assay and electrophoretic mobility shift assay supported that the allele A of rs1322330 could down-regulate the expression of LBX1 in the paraspinal muscles of AIS. In addition, silencing LBX1 in the myosatellite cells resulted in significantly inhibited cell viability and myotube formation, which supported an essential role of LBX1 in muscle development of AIS. To summarize, rs1322330 may be a novel functional SNP regulating the expression of LBX1, which was involved in the etiology of AIS possibly via regulation of myogenesis in the paraspinal muscles.
Keywords
