AUTHOR=Xu Leilei , Feng Zhenhua , Dai Zhicheng , Lee Wayne Y. W. , Wu Zhichong , Liu Zhen , Sun Xu , Tang Nelson , Cheng Jack Chun-Yiu , Qiu Yong , Zhu Zezhang 

TITLE=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

JOURNAL=Frontiers in Cell and Developmental Biology

VOLUME=9

YEAR=2021

URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2021.777890

DOI=10.3389/fcell.2021.777890

ISSN=2296-634X

ABSTRACT=<p>Previous studies have shown that <italic>LBX1</italic> is associated with adolescent idiopathic scoliosis (AIS) in multiple populations. For the first time, rs1322330 located in the putative promoter region of <italic>LBX1</italic> was found significantly associated with AIS in the Chinese population [<italic>p</italic> = 6.08 × 10<sup>–14</sup>, 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 <italic>LBX1</italic> in the paraspinal muscles of AIS. In addition, silencing <italic>LBX1</italic> in the myosatellite cells resulted in significantly inhibited cell viability and myotube formation, which supported an essential role of <italic>LBX1</italic> in muscle development of AIS. To summarize, rs1322330 may be a novel functional SNP regulating the expression of <italic>LBX1</italic>, which was involved in the etiology of AIS possibly <italic>via</italic> regulation of myogenesis in the paraspinal muscles.</p>