胸椎黄韧带骨化是导致胸椎管狭窄、脊髓压迫的主要原因之一，其病因和发病机制尚不明确。流行病学及临床上相关现象表明，遗传因素可能在胸椎黄韧带骨化过程中起到了关键作用。目前已有的关于胸椎黄韧带骨化易感基因研究比较局限，缺少全面系统性的研究。我们前期采用全基因组外显子测序技术，发现胸椎黄韧带骨化的易感基因HIF3A。本研究将根据影像学和临床表现对胸椎黄韧带骨化进行分组分层，探讨遗传因素在不同类型胸椎黄韧带骨化中的作用。同时，检测易感基因HIF3A在骨化的黄韧带组织、细胞及动物模型中的表达情况，对易感基因进行初步的功能研究。从而进一步了解疾病的发病机制，提高临床上对疾病的认识，对临床上相关现象予以分析解答，为疾病的易感人群筛查、早期诊断、治疗、复发预防等提供理论依据。

Thoracic ossification of ligamentum flavum（TOLF）is an important cause of thoracic spinal stenosis and compressive myelopathy, however, the etiology and pathogenesis of TOLF remains unclear. Epidemiological data and certain clinical phenomena suggest that hereditary factor may play a crucial role in the formation of TOLF. At present, researches on susceptibility genes of TOLF are limited, lacked of a comprehensive and systematic research. Our previous study has found a major susceptibility gene-HIF3A by whole exon sequencing. This study intends to classify TOLF into different groups according to radiographic outcomes and clinical manifestation and explore the role of hereditary factor in different types of TOLF. Meanwhile, the expression of the HIF3A on flavum ligament tissues, cultured cells and animal models will be investigated. The research about the susceptibility gene helps to understand the pathogenesis of TOLF, and provides a rationale for population screening, early diagnosis, treatment and prevention of this disease.