Sakou T, Taketomi E, Matsunaga S, Yamaguchi M, Sonoda S, Yashiki S
Department of Orthopaedic Surgery, Faculty of Medicine, Kagoshima University, Japan.
Spine (Phila Pa 1976). 1991 Nov;16(11):1249-52. doi: 10.1097/00007632-199111000-00001.
To evaluate the genetic background of ossification of the posterior longitudinal ligament, the relationship between the presence of absence of ossification and human leukocyte antigen haplotypes was studied in 33 families of patients with ossification of the posterior longitudinal ligament. The study revealed that human leukocyte antigen haplotypes formed certain types of clusters, and that some human leukocyte antigen haplotypes were very rare in the Japanese population, suggesting the involvement of human leukocyte antigen-linked factors in the pathogenesis of ossification of the posterior longitudinal ligament of the cervical spine. In the families of these patients, ossification of the posterior longitudinal ligament was demonstrated by radiography in 56% (10/18) of the siblings. Each of these siblings shared both human leukocyte antigen haplotypes with the patient. None of those who shared only one human leukocyte antigen haplotype with the patient had developed ossification of the posterior longitudinal ligament. From these findings, the presence of both pathogenic human leukocyte antigen haplotypes is considered to be necessary for the development of ossification of the posterior longitudinal ligament, and this genetic predisposition may be activated by multiple factors, including regressive degeneration due to aging and the environment.
为评估后纵韧带骨化的遗传背景，我们对33个后纵韧带骨化患者家庭进行研究，分析后纵韧带骨化的有无与人类白细胞抗原单倍型之间的关系。研究显示，人类白细胞抗原单倍型形成了特定类型的簇集，并且某些人类白细胞抗原单倍型在日本人群中非常罕见，这表明人类白细胞抗原相关因素参与了颈椎后纵韧带骨化的发病机制。在这些患者的家庭中，通过X线检查发现，56%（10/18）的兄弟姐妹存在后纵韧带骨化。这些兄弟姐妹均与患者共享两种人类白细胞抗原单倍型。而那些仅与患者共享一种人类白细胞抗原单倍型的人，均未发生后纵韧带骨化。基于这些发现，两种致病性人类白细胞抗原单倍型的存在被认为是后纵韧带骨化发生的必要条件，并且这种遗传易感性可能被多种因素激活，包括衰老和环境导致的退行性变。
