Conclusions
It is our consensus that elucidation of the genetic factors involved in OPLL is a key issue for fully understanding the pathophysiology of OPLL in the search for future therapeutic methods. For a number of years efforts have been made to identify genes responsible for OPLL. Extracellular matrix genes such as COL11A2 and COL6A1 were identified as conveying genetic susceptibility, and involvement of NPPS was reported as well. Thus far, however, the results have not been consistent. Evidently, a much larger association study is required to clarify this issue. Also genetic studies in populations other than the Japanese is needed to investigate etiological identity or differences in distinct populations. Understanding the role of genetic factors in the etiology of OPLL allows more precise definition of nongenetic factors, such as environmental and lifestyle- oriented factors, which may help improve the patients’ status.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Lander ES, Schork N-J (1994) Genetic dissection of complex traits. Science 265:2037–2048
Utsinger PD (1985) Diffuse idiopathic skeletal hyperostosis. Clin Rheum Dis 11:325–351
Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M (1998) Genetic mapping of ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet 62:1460–1467
Furushima K, Shimo-Onoda K, Maeda S, Nobukuni T, Ikari K, Koga H, Komiya S, Nakajima T, Harata S, Inoue I (2002) Large scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 17:128–137
Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179–1188
Nakajima T, Jorde LB, Ishigami T, Umemura S, Emi M, Lalouel JM, Inoue I (2002) Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. Am J Hum Genet 70:108–123
Sakou T, Taketomi E, Matsunaga S, Yamaguchi M, Sonoda S, Yashiki S (1991) Genetic study of ossification of the posterior longitudinal ligament in the cervical spine with human leukocyte antigen haplotype. Spine 16:1249–1252
Numasawa T, Koga H, Ueyama K, Maeda S, Sakou T, Harata S, Leppert M, Inoue I (1999) Human retinoic receptor: complete genomic sequence and mutation search for ossification of posterior longitudinal ligament of the spine. J Bone Miner Res 14:500–508
Maeda S, Koga H, Matsunaga S, Numasawa T, Takeda J, Harata S, Sakou T, Inoue I (2001) Gender-specific haplotype association of collagen α2(XI) gene in ossification of the posterior longitudinal ligament of the spine. J Hum Genet 46:1–4
Maeda S, Ishidou Y, Koga H, Taketomi E, Ikari K, Komiya S, Takeda J, Sakou T, Inoue I (2001) Functional impact of human collagen α2(Xl) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 16:948–957
Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, Ikegawa S (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 19:271–273
Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, Koyama T, Goto S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y (1999) Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet 104:492–497
Koshizuka Y, Kawaguchi H, Ogata N, Ikeda T, Mabuchi A, Seichi A, Nakamura Y, Nakamura K, Ikegawa S (2002) Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 17:138–144
Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt S, Takeda J, Toh S, Harata S, Nakajima T, Inoue I (2003) 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 73:812–822
Zhang Y, Chen Q (2000) Changes of matrilin forms during endochondral ossification: molecular basis of oligomeric assembly. J Biol Chem 275:32628–32634
Meyer PR Jr (1999) Diffuse idiopathic skeletal hyperostosis in the cervical spine. Clin Orthop 359:49–57
Trojan DA, Pouchot J, Pokrupa R, Ford RM, Adamsbaum C, Hill RO, Esdaile JM (1992) Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine: report of eight cases and literature review. Am J Med 92:296–306
Weinfeld RM, Olson PN, Maki DD, Griffiths HJ (1997) The prevalence of diffuse idiopathic skeletal hyperostosis (DISH) in two large American Midwest metropolitan hospital populations. Skeletal Radiol 26:222–225
Tsukahara S, Miyazawa N, Akagawa H, Forejtova S, Pavelka K, Tanaka T, Toh S, Tajima A, Akiyama I, Inoue I (2005, in press) COL6A1, the candidate gene for ossification of posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. Spine
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Springer
About this chapter
Cite this chapter
Inoue, I. (2006). Genetic Susceptibility to OPLL. In: Yonenobu, K., Nakamura, K., Toyama, Y. (eds) OPLL. Springer, Tokyo. https://doi.org/10.1007/978-4-431-32563-5_4
Download citation
DOI: https://doi.org/10.1007/978-4-431-32563-5_4
Publisher Name: Springer, Tokyo
Print ISBN: 978-4-431-32561-1
Online ISBN: 978-4-431-32563-5
eBook Packages: MedicineMedicine (R0)