Ossification of the posterior longitudinal ligament of spine

Definition:

Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior longitudinal ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease.

References:

[1]. H Koga, et al. Genetic mapping of ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet. 1998 Jun;62(6):1460-7. [Content Brief]

[2]. I Nakamura, et al. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet. 1999 Jun;104(6):492-7. [Content Brief]

[3]. S Maeda, et al. Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. J Hum Genet. 2001;46(1):1-4. [Content Brief]

[4]. Taizo Horikoshi, et al. A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. Hum Genet. 2006 Jul;119(6):611-6. [Content Brief]

[5]. Toshihiro Tanaka, et al. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet. 2003 Oct;73(4):812-22. [Content Brief]

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