Genome-wide association studies have identified many susceptibility genes for adolescent idiopathic scoliosis (AIS). However, most of the results are hard to be replicated in multi-ethnic populations. LBX1 is the most promising candidate gene in the etiology of AIS. We aimed to appraise the literature for the association of LBX1 gene polymorphisms with susceptibility and curve progression in AIS. We also reviewed the function of the LBX1 gene in muscle progenitor cell migration and neuronal determination processes. Three susceptibility loci (rs11190870, rs625039, and rs11598564) near the LBX1 gene, as well as another susceptibility locus (rs678741), related to LBX1 regulation, have been successfully verified to have robust associations with AIS in multi-ethnic populations. The LBX1 gene plays an essential role in regulating the migration and proliferation of muscle precursor cells, and it is known to play a role in neuronal determination processes, especially for the fate of somatosensory relay neurons. The LBX1 gene is the most promising candidate gene in AIS susceptibility due to its position and possible functions in muscle progenitor cell migration and neuronal determination processes. The causality between susceptibility loci related to the LBX1 gene and the pathogenesis of AIS deserves to be explored with further integrated genome-wide and epigenome-wide association studies.

全基因组关联研究已经确定了许多青少年特发性脊柱侧凸（AIS）的易感基因。但是，大多数结果很难在多种族人群中复制。LBX1是AIS病因中最有希望的候选基因。我们旨在评估有关LBX1基因多态性与AIS易感性和曲线进展的关联的文献。我们还审查了LBX1基因在肌肉祖细胞迁移和神经元确定过程中的功能。LBX1基因附近的三个易感基因座（rs11190870，rs625039和rs11598564）以及另一个与LBX1调控有关的易感基因座（rs678741）已被成功验证与多族裔人群中的AIS有密切的关联。LBX1基因在调节肌肉前体细胞的迁移和增殖中起着至关重要的作用，并且已知在神经元确定过程中尤其是对体感中继神经元的命运中起着作用。LBX1基因是AIS易感性中最有希望的候选基因，因为它在肌肉祖细胞迁移和神经元确定过程中的位置和可能的功能。与LBX1基因相关的易感基因座与AIS的发病机理之间的因果关系值得进一步综合的全基因组和表观基因组关联研究进行探讨。LBX1基因是AIS易感性中最有希望的候选基因，因为它在肌肉祖细胞迁移和神经元确定过程中的位置和可能的功能。与LBX1基因相关的易感基因座与AIS的发病机理之间的因果关系值得进一步综合的全基因组和表观基因组关联研究进行探讨。LBX1基因是AIS易感性中最有希望的候选基因，因为它在肌肉祖细胞迁移和神经元确定过程中的位置和可能的功能。与LBX1基因相关的易感基因座与AIS的发病机理之间的因果关系值得进一步综合的全基因组和表观基因组关联研究进行探讨。