title: Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
abstract: 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.
authors.affiliation: Department of Orthopedic Surgery, Faculty of Medicine, Kagoshima University, Kagoshima, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Koga
authors.forename: T
authors.initials: T
authors.lastname: Sakou
authors.forename: E
authors.initials: E
authors.lastname: Taketomi
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Numasawa
authors.forename: S
authors.initials: S
authors.lastname: Harata
authors.forename: K
authors.initials: K
authors.lastname: Yone
authors.forename: S
authors.initials: S
authors.lastname: Matsunaga
authors.forename: B
authors.initials: B
authors.lastname: Otterud
authors.forename: I
authors.initials: I
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Leppert
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003094:Collagen / Q000235:genetics; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D017887:Ossification of Posterior Longitudinal Ligament / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D011859:Radiography
chemical_list: D006680:HLA Antigens; D003094:Collagen