Paget's disease of bone: Evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity

Journal of Bone and Mineral Research

Volumn 13, Issue 6, 1998, Pages 911-917

  Haslam, Sonya I ^a   Van Hul, Wim ^b   Morales Piga, Antonio ^c   Balemans, Wendy ^b   San Millan, J L ^c   Nakatsuka, Kiyoshi ^d   Willems, Patrick ^b   Haites, Neva E ^a   Ralston, Stuart H ^a  

^a UNIVERSITY OF ABERDEEN   (United Kingdom)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

^d Osaka Prefecture University   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE MALFORMATION; BONE PAIN; CHROMOSOME 18; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; OSTEOSARCOMA; PAGET BONE DISEASE; PATHOLOGIC FRACTURE; PEDIGREE; PENETRANCE; SEGREGATION ANALYSIS;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, 21-22 AND Y; CHROMOSOMES, HUMAN, PAIR 18; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; JAPAN; MICROSATELLITE REPEATS; OSTEITIS DEFORMANS; PEDIGREE; SPAIN;

EID: 0031778038     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1998.13.6.911     Document Type: Article

References (27)

1. Kanis JA 1992 Pathophysiology and Treatment of Paget's Disease of Bone. Martin Dunitz, London, U.K.
2. Siris ES 1996 Seeking the elusive etiology of Paget's disease: A progress report. J Bone Miner Res 11:1599-1601.
3. Rebel A, Malkani K, Basle M, Bregeon C 1974 Particularites ultrastructurales des osteoclasts de la maladie de Paget. Rev Rhum Mal Osteoartic 41:767-771.
4. Mills BG, Singer FR 1976 Nuclear inclusions in Paget's disease of bone. Science 194:201-202.
5. Beneton MNC, Harris S, Kanis JA 1987 Paramyxovirus-like inclusions in two cases of pycnodysostosis. Metab Bone Dis Rel Res 8:211-217.
6. Silvestrini G, Ballanti P, Mocetti P, Bonucci E, Bianco P 1991 Paramyxovirus-like nuclear inclusions identical to those of Paget's disease detected in giant cells of primary oxalosis. Calcif Tissue Int 48 (Suppl):A64 (abstract).
7. Ralston SH, Helfrich MH, Hobson RP, Pennington TH 1997 Does Paget's disease really have a viral etiology? J Bone Miner Res 12:863-864.
8. Montagu MFA 1949 Paget's disease (osteitis deformans) and hereditary. Am J Hum Genet 1:94-95.
9. Barker DJ 1984 The epidemiology of Paget's disease of bone. [Rev] Br Med Bull 40:396-400.
10. Cundy T, McAnulty K, Wattie D, Gamble G, Rutland M, Ibbertson HK 1997 Evidence for secular change in Paget's disease. Bone 20:69-71.
11. McKusick VA 1972 Heritable Disorders of Connective Tissue, 4th Ed. C.V. Mosby, St. Louis, MO, U.S.A.
12. Sofaer JA, Holloway SM, Emery AEH 1983 A family study of Paget's disease of Bone. J Epidemiol Community Health 37: 226-231.
13. Siris ES, Ottman R, Flaster E, Kelsey JL 1991 Familial aggregation of Paget's disease of bone. J Bone Miner Res 6:495-500.
14. Morales-Piga AA, Rey-Rey JS, Corres-Gonzales J, Garcia-Sagredo JM, Lopez-Abente G 1995 Frequency and characteristics of familial aggregation of Paget's disease of bone. J Bone Miner Res 10:663-670.
15. Fotino M, Haymovits A, Falk CT 1977 Evidence for linkage between HLA and Paget's disease. Transplant Proc 9:1876-1868.
16. Moore SB, Hoffman DL 1988 Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone). Tissue Antigens 31:69-70.
17. Singer FR, Mills BG, Park MS, Takemura S, Terasaki P 1985 Increased HLA-DqW1 antigen frequency in Paget's disease of bone. J Bone Miner Res 1 (Suppl):A128.
18. Cody JD, Singer FR, Roodman GD, Otterund B, Lewis TB, Leppert M, Leach RJ 1997 Genetic linkage of Paget's disease of the bone to chromosome 18q. Am J Hum Genet 61:1117-1122.
19. Hughes AE, Shearman AM, Weber JL, Barr RJ, Wallace RGH, Osterberg PH, Nevin NC, Mollan RAB 1994 Genetic linkage of familial expansile osteolysis to chromosome 18q. Human Mol Genet 3:359-361.
20. Wallace RGH, Barr RJ, Osterberg PH, Mollan RAB 1989 Familial expansile osteolysis. Clin Orthop 248:265-277.
21. Lathrop GM, Lalouel JM, Julier C, Ott J 1985 Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
22. Detheridge FM, Guyer PB, Barker DJ 1982 European distribution of Paget's disease of bone. Br Med J 285:1005-1008.
23. Terwilliger JD, Ott J 1994 Handbook of Human Genetic Linkage. Johns Hopkins University Press, Baltimore, MD, U.S.A., pp. 235-242.
24. Lander ES, Kruglyak L 1995 Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247.
25. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tome P, Aggarwal A, Bajorek E et al. 1996 A gene map of the human genome. Science 274: 540-546.
26. Reed JC 1997 Double identity for proteins of the Bcl-2 family. Nature 387:773-777.
27. Haslam SI, Haites NE, Thomson JMG, Nakatsuka K, Ralston SH 1997 Genetics of Paget's disease: Linkage to chromosome 18q and evidence of abnormal BCL2 regulation. Bone 20:9S (abstract).