T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population

Chinese Medical Journal

Volumn 123, Issue 18, 2010, Pages 2537-2542

  Meng, Xiang Long ^a   Wang, Hao ^b   Yang, Hui ^a   Hai, Yong ^a   Tian, Bao Peng ^b   Lin, Xin ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Bone morphogenetic protein 4; Case control study; Ossification of the posterior longitudinal ligament; Single nucleotide polymorphisms

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4;

ADULT; ARTICLE; BONE MORPHOGENETIC PROTEIN 4 GENE; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LIGAMENT CALCINOSIS; MAJOR CLINICAL STUDY; MALE; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION SITE;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BONE MORPHOGENETIC PROTEIN 4; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; OSSIFICATION OF POSTERIOR LONGITUDINAL LIGAMENT; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79851470184     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2010.18.008     Document Type: Article

References (50)

1. Sakou T, Matsunaga S, Koga H. Recent progress in the study of pathogenesis of ossification of the posterior longitudinal ligament. J Orthop Sci 2000; 5: 310-315.
2. Schmidt MH, Quinones-Hinojosa A, Rosenberg WS. Cervical myelopathy associated with degenerative spine disease and ossification of the posterior longitudinal ligament. Semin Neurol 2002; 22: 143-148.
3. Matsunaga S, Sakou T. Epidemiology of ossification of the posterior longitudinal ligament. In: Yonenobu K, Sakou T, Ono K, eds. OPLL: Ossification of the Posterior Longitudinal Ligament. Tokyo: Springer-Verlag; 1997: 11-17.
4. Li ZS, Zhang GB, Sheng CH. The incidence of the ossification of the posterior longitudinal ligament in northern region of China. Chin J Spine Spinal Cord (Chin) 1999; 9: 285-286.
5. Velan GJ, Currier BL, Clarke BL, Yaszemski MJ. Ossification of the posterior longitudinal ligament in vitamin D-resistant rickets: case report and review of the literature. Spine 2001; 26: 590-593.
6. Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, 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: 1-41.
7. Iwasaki K, Furukawa KI, Tanno M, Kusumi T, Ueyama K, Tanaka M, et al. Uni-axial cyclic stretch induces Cbfa1 expression in spinal ligament cells derived from patients with ossification of the posterior longitudinal ligament. Calcif Tissue Int 2004; 74: 448-457.
8. Okamoto K, Kobashi G, Washio M, Sasaki S, Yokoyama T, Miyake Y, et al. Dietary habits and risk of ossification of the posterior longitudinal ligaments of the spine (OPLL); findings from a case-control study in Japan. J Bone Mineral Metab 2004; 22: 612-617.
9. Kobashi G, Washio M, Okamoto K, Sasaki S, Yokoyama T, Miyake Y, et al. High body mass index after age 20 and diabetes mellitus are independent risk factors for ossification of the posterior longitudinal ligament of the spine in Japanese subjects: a case-control study in multiple hospitals. Spine 2004; 29: 1006-1010.
10. Terayama K. Genetic studies on ossification of the posterior longitudinal ligament of the spine. Spine 1989; 14: 1184-1191.
11. Taketomi E, Sakou T, Matsunaga S, Yamaguchi M. Family study of a twin with ossification of the posterior longitudinal ligament in the cervical spine. Spine 1992; 17 Suppl 3: S55-S56.
12. Matsunaga S, Yamaguchi M, Hayashi K, Sakou T. Genetic analysis of ossification of the posterior longitudinal ligament. Spine 1999; 24: 937-938.
13. Sakou T, Taketomi E, Matsunaga S, Yamaguchi M, Sonoda S, Yashiki S. Genetic study of ossification of the posterior longitudinal ligament in the cervical spine with human leukocyte antigen haplotype. Spine 1991; 16: 1249-1252.
14. Kong QQ, Ma X, Li F, Guo ZQ, Qi Q, Li WS, et al. COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. Spine 2007; 32: 2834-2838.
15. Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, Ikegawa S. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 1998; 19: 271-273.
16. Kawaguchi Y, Furushima K, Sugimori K, Inoue I, Kimura T. Association between polymorphism of the transforming growth factor-beta1 gene with the radiologic characteristic and ossification of the posterior longitudinal ligament. Spine 2003; 28: 1424-1426.
17. Ogata N, Koshizuka Y, Miura T, Iwasaki M, Hosoi T, Shiraki M, et al. Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity. Spine 2002; 27: 1765-1771.
18. Wang H, Liu D, Yang Z, Tian B, Li J, Meng X, et al. Association of bone morphogenetic protein-2 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity in Chinese patients. Eur Spine J 2008; 17: 956-964.
19. Wang H, Yang ZH, Liu DM, Wang L, Meng XL, Tian BP. Association between two polymorphisms of the bone morphogenetic protein-2 gene with genetic susceptibility to ossification of the posterior longitudinal ligament of the cervical spine and its severity. Chin Med J 2008; 121: 1806-1810.
20. Ohishi H, Furukawa K, Iwasaki K, Ueyama K, Okada A, Motomura S, et al. Role of prostaglandin I2 in the gene expression induced by mechanical stress in spinal ligament cells derived from patients with ossification of posterior longitudinal ligament. J Pharmacol Exp Ther 2003; 305: 818-824.
21. Tanno M, Furukawa KI, Ueyama K, Harata S, Motomura S. Uniaxial cyclic stretch induces osteogenic differentiation and synthesis of bone morphogenetic proteins of spinal ligament cells derived from patients with ossification of the posterior longitudinal ligaments. Bone 2003; 33: 475-484.
22. Attisano L, Carcamo J, Ventura F, Weis FM, Massagué J, Wrana JL. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 1993; 75: 671-680.
23. Rosenzweig BL, Imamura T, Okadome T, Cox GN, Yamashita H, ten Dijke P, et al. Cloning and characterization of a human type Dz{cyrillic} receptor for bone morphogenetic proteins. Proc Natl Acad Sci U S A 1995; 92: 7632-7636.
24. Ten Dijike P, Yamashita H, Sampath TK, Reddi AH, Estevez M, Riddle DL, et al. Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4. J Biol Chem 1994; 269: 16985-16988.
25. Furushima K, Shimo-onoda, Maeda S, Nobukuni T, Ikari K, Koga H, et al. Large-scale screeing for candidate genes of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 2002; 17: 128-137.
26. Dunn NR, Winnier GE, Hargett LK, Schrick JJ, Fogo AB, Hogan BL. Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. Dev Biol 1997; 188: 235-247.
27. Chandler KJ, Chandler RL, Mortlock DP. Identification of an ancient Bmp4 mesoderm enhancer located 46 kb from the promoter. Dev Biol 2009; 327: 590-602
28. Ramesh Babu L, Wilson SG, Dick IM, Islam FM, Devine A, Prince RL. Bone mass effects of a BMP4 gene polymorphism in postmenopausal women. Bone 2005; 36: 555-561.
29. Tsuyama N. Ossification of the posterior longitudinal ligament of the spine. Clin Orthop Relat Res 1984; 184: 71-84.
30. Matsunaga S, Yamaguchi M, Hayashi K, Sakou T. Genetic analysis of ossification of the posterior longitudinal ligament. Spine 1999; 24: 937-938.
31. Miyamoto S, Takaoka K, Yonenobu K, Ono K. Ossification of the ligamentum flavum induced by bone morphogenetic protein. An experimental study in mice. J Bone Joint Surg Br 1992; 74: 279-283.
32. Ono K, Yonenobu K, Miyamoto S, Okada K. Pathology of ossification of the posterior longitudinal ligament and ligamentum flavum. Clin Orthop Relat Res 1999; 359: 18-26.
33. Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukaw. 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; 73: 812-822.
34. Hayashi K, Ishidou Y, Yonemori K, Nagamine T, Origuchi N, Maeda S. Expression and localization of bone morphogenetic proteins and BMP receptors in ossification of the ligamentum flavum. Bone 1997; 21: 23-30.
35. Shafritz AB, Kaplan FS. Differential expression of bone and cartilage related genes in fibrodysplasia ossificans progressiva, myositis ossificans traumatica, and osteogenic sarcoma. Clin Orthop 1998; 346: 46-52.
36. Nakase T, Nomura S, Yoshikawa H, Hashimoto J, Hirota S, Kitamura Y, et al. Transient and localized expression of bone morphogenetic protein 4 messenger RNA during fracture healing. J Bone Mineral Res 1994; 9: 651-659.
37. Bostrom MP, Lane JM, Berberian WS, Missri AA, Tomin E, Weiland A, et al. Immunolocalization and expression of bone morphogenetic proteins 2 and 4 in fracture healing. J Orthop Res 1995; 13: 357-367.
38. Guo X, Lee KM, Law LP, Chow HK, Rosier R, Cheng CY. Recombinant human bone morphogenetic protein-4 (rhBMP-4) enhanced posterior spinal fusion without decortication. J Orthop Res 2002; 20: 740-746.
39. Johnson EE, Urist MR. Human bone morphogenetic protein allografting for reconstruction of femoral nonunion. Clin Orthop 2000; 371: 61-74.
40. Johnson EE, Urist MR. One-stage lengthening of femoral nonunion augmented with human bone morphogenetic protein. Clin Orthop 1998; 347: 105-116.
41. Goldman DC, Hackenmiller R, Nakayama T, Sopory S, Wong C, Kulessa H, et al. Mutation of an upstream cleavage site in the BMP4 prodomain leads to tissue-specific loss of activity. Development 2006; 133: 1933-1942.
42. Liu W, Selever J, Wang D, Lu MF, Moses KA, Schwartz RJ, et al. Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling. Proc Natl Acad Sci U S A 2004; 101: 4489-4494.
43. Liu W, Selever J, Murali D, Sun X, Brugger SM, Ma L, et al. Threshold-specific requirements for Bmp4 in mandibular development. Dev Biol 2005; 283: 282-293.
44. Pregizer S, Mortlock DP. Control of BMP gene expression by long-range regulatory elements. Cytokine Growth Factor Rev 2009; 20: 509-515.
45. Ovcharenko I, Loots GG, Giardine BM, Hou M, Ma J, Hardison RC, et al. Mulan: multiple-sequence local alignment and visualization for studying function and evolution. Genome Res 2005; 15: 184-194.
46. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between BMP4 and hedgehog signaling pathways. Am J Hum Genet 2008; 82: 304-319.
47. Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 2009; 84: 406-411.
48. Suazo J, Santos JL, Jara L, Blanco R. Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a Chilean population. DNA Cell Biol 2010; 29: 59-64.
49. Lin JY, Chen YJ, Huang YL, Tang GP, Zhang L, Deng B, et al. Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. DNA Cell Biol 2008; 27: 601-605.
50. Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, et al. Gender-specific haplotype association of collagen ct 2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. J Hum Genet 2001; 46: 1-4.