基因多态性与脊柱后纵韧带骨化病发病机制的研究进展

Single nucleotide polymorphisms and ossification of posterior longitudinal ligament:recent progress

后纵韧带骨化(ossification of the posterior longitudinal ligament,OPLL)是临床常见脊柱疾患,好发于颈椎,主要表现为神经压迫症状,严重损伤患者健康。其发病机制尚不明确,与遗传因素、基因多态性、机械刺激、代谢异常等多种因素有关,可能是多基因、多因素导致的疾病。该病具有鲜明的遗传特性,与多个基因单核苷酸多态性位点的改变相关。因此,本文就其发病相关基因(COL11A2、BMP-2、TGF-β1、TGF-β3、NPPS、COL6A1、Runx2)的多态性研究进展作一综述,为后续研究奠定基础。

Ossification of the posterior longitudinal ligament （OPLL） is common clinical spinal disorders often occurring in the cervical spine,with the main symptom being nerve compression.The specific mechanism of OPLL remains unclear,but genetic factors,single nucleotide polymorphisms （SNPs）,mechanical stimulation,metabolism abnormality might be involved in the etiology of the disease.Multiple genetic and environmental factors may contribute to the development of OPLL.OPLL has prominent genetic characteristic,and it is associated with SNPs of several genes.Here we review the SNPs of several genes （COL11A2,BMP-2,TGF-β1,TGF-β3,NPPS,COL6A1 and Runx2） which contribute to the development of OPLL,hoping to lay a foundation for future study.