Genetic mapping of ossification of the posterior longitudinal ligament of the spine

Am J Hum Genet. 1998 Jun;62(6):1460-7. doi: 10.1086/301868.


Ossification of the posterior longitudinal ligament of the spine (OPLL) is recognized as a common disorder among Japanese and throughout Asia. Estimates of its prevalence are in the range of 1. 9%-4.3%. Although its etiology is thought to involve a multiplicity of factors, epidemiological and family studies strongly implicate genetic susceptibility in the pathogenesis of OPLL. In this study we report an identification of a predisposing locus for OPLL, on chromosome 6p, close to the HLA complex. The evidence for this localization is provided by a genetic-linkage study of 91 affected sib pairs from 53 Japanese families. In this sib-pair study, D6S276, a marker lying close to the HLA complex, gives evidence for strongly significant linkage (P = .000006) to the OPLL locus. A candidate gene in the region, that for collagen 11A2, was analyzed for the presence of molecular variants in affected probands. Of 19 distinct variants identified, 4 showed strong statistical associations with OPLL (highest P = .0004). These observations of linkage and association, taken together, show that a genetic locus for OPLL lies close to the HLA region, on chromosome 6p.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Collagen / genetics
  • Genetic Linkage
  • Genotype
  • HLA Antigens / genetics
  • Haplotypes
  • Humans
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Mutation
  • Ossification of Posterior Longitudinal Ligament / diagnostic imaging
  • Ossification of Posterior Longitudinal Ligament / genetics*
  • Ossification of Posterior Longitudinal Ligament / physiopathology
  • Radiography


  • HLA Antigens
  • Collagen

Associated data

  • GENBANK/U32169