Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

Journal of Bone and Mineral Research

Volumn 25, Issue 12, 2010, Pages 2316-2329

  Chung, Pui Yan Jenny ^a   Beyens, Greet ^a   Riches, Philip L ^b   Van Wesenbeeck, Liesbeth ^a   De Freitas, Fenna ^a   Jennes, Karen ^a   Daroszewska, Anna ^b   Fransen, Erik ^a   Boonen, Steven ^c   Geusens, Piet ^d,k   Vanhoenacker, Filip ^a   Verbruggen, Leon ^e   Van Offel, Jan ^a   Goemaere, Stefan ^f   Zmierczak, Hans Georg ^f   Westhovens, René ^g   Karperien, Marcel ^h   Papapoulos, Socrates ⁱ   Ralston, Stuart H ^b   Devogelaer, Jean Pierre ^j   Van Hul, Wim ^a   more..

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d HASSELT UNIVERSITY   (Belgium)

^e UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF LEUVEN   (Belgium)

^h UNIVERSITY OF TWENTE   (Netherlands)

ⁱ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^j CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^k MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Genetic Variants; Paget's Disease of Bone; Rank; Sex Dependent Effect; TNFRSF11A

Indexed keywords

PROTEIN TNFRSF 11 A; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE REPLICATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; BELGIUM; EXONS; FEMALE; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETICS, POPULATION; HAPLOTYPES; HUMANS; INTRONS; LUCIFERASES; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; NF-KAPPA B; OSTEITIS DEFORMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; QUALITY CONTROL; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 78649317834     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.162     Document Type: Article

References (88)

1. Barker DJ., The epidemiology of Paget's disease. Metab Bone Dis Relat Res. 1981; 3: 231-233.
2. Cundy T, McAnulty K, Wattie D, Gamble G, Rutland M, Ibbertson HK., Evidence for secular change in Paget's disease. Bone. 1997; 20: 69-71.
3. Cooper C, Schafheutle K, Dennison E, Kellingray S, Guyer P, Barker D., The epidemiology of Paget's disease in Britain: Is the prevalence decreasing ? J Bone Miner Res. 1999; 14: 192-197.
4. Tiegs RD, Lohse CM, Wollan PC, Melton LJ., Long-term trends in the incidence of Paget's disease of bone. Bone. 2000; 27: 423-427.
5. Armas JB, Pimentel F, Guyer PB, Cooper C, Pye SR, O'Neill TW., Evidence of geographic variation in the occurrence of Paget's disease. Bone. 2002; 30: 649-650.
6. Doyle T, Gunn J, Anderson G, Gill M, Cundy T., Paget's disease in New Zealand: evidence for declining prevalence. Bone. 2002; 31: 616-619.
7. van Staa TP, Selby P, Leufkens HG, Lyles K, Sprafka JM, Cooper C., Incidence and natural history of Paget's disease of bone in England and Wales. J Bone Miner Res. 2002; 17: 465-471.
8. Cundy HR, Gamble G, Wattie D, Rutland M, Cundy T., Paget's disease of bone in New Zealand: continued decline in disease severity. Calcif Tissue Int. 2004; 75: 358-364.
9. Choma TJ, Kuklo TR, Islinger RB, Murphey MD, Temple HT., Paget's disease of bone in patients younger than 40 years. Clin Orthop Relat Res. 2004; 418: 202-204.
10. Hansen MF, Seton M, Merchant A., Osteosarcoma in Paget's disease of bone. J Bone Miner Res. 2006; 21 (Suppl 2): P58-63.
11. Greditzer HG 3rd, McLeod RA, Unni KK, Beabout JW., Bone sarcomas in Paget disease. Radiology. 1983; 146: 327-333.
12. Hadjipavlou A, Lander P, Srolovitz H, Enker IP., Malignant transformation in Paget disease of bone. Cancer. 1992; 70: 2802-2808.
13. Selby PL, Davie MW, Ralston SH, Stone MD., Guidelines on the Management of Paget's disease of bone. Bone. 2002; 31: 366-373.
14. Mills BG, Singer FR, Weiner LP, Suffin SC, Stabile E, Holst P., Evidence for both respiratory syncytial virus and measles virus antigens in the osteoclasts of patients with Paget's disease of bone. Clin Orthop Relat Res. 1984; 183: 303-311.
15. Basle MF, Russell WC, Goswami KK, et al. Paramyxovirus antigens in osteoclasts from Paget's bone tissue detected by monoclonal antibodies. J Gen Virol. 1985; 66: 2103-2110.
16. Friedrichs WE, Reddy SV, Bruder JM, et al. Sequence analysis of measles virus nucleocapsid transcripts in patients with Paget's disease. J Bone Miner Res. 2002; 17: 145-151.
17. Ralston SH, Digiovine FS, Gallacher SJ, Boyle IT, Duff GW., Failure to detect paramyxovirus sequences in Paget's disease of bone using the polymerase chain reaction. J Bone Miner Res. 1991; 6: 1243-1248.
18. Nuovo MA, Nuovo GJ, MacConnell P, Forde A, Steiner GC., In situ analysis of Paget's disease of bone for measles-specific PCR-amplified CDNA. Diagn Mol Pathol. 1992; 1: 256-265.
19. Birch MA, Taylor W, Fraser WD, Ralston SH, Hart CA, Gallagher JA., Absence of paramyxovirus RNA in cultures of pagetic bone cells and in pagetic bone. J Bone Miner Res. 1994; 9: 11-16.
20. Helfrich MH, Hobson RP, Grabowski PS, et al. A negative search for a paramyxoviral etiology of Paget's disease of bone: molecular, immunological, and ultrastructural studies in UK patients. J Bone Miner Res. 2000; 15: 2315-2329.
21. Ooi CG, Walsh CA, Gallagher JA, Fraser WD., Absence of measles virus and canine distemper virus transcripts in long-term bone marrow cultures from patients with Paget's disease of bone. Bone. 2000; 27: 417-421.
22. Ralston SH, Afzal MA, Helfrich MH, et al. Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone. J Bone Miner Res. 2007; 22: 569-577.
23. Sofaer JA, Holloway SM, Emery AE., A family study of Paget's disease of bone. J Epidemiol Community Health. 1983; 37: 226-231.
24. Siris ES, Ottman R, Flaster E, Kelsey JL., Familial aggregation of Paget's disease of bone. J Bone Miner Res. 1991; 6: 495-500.
25. Siris ES., Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum. 1994; 23: 222-225.
26. Morales-Piga AA, Rey-Rey JS, Corres-Gonzalez J, Garcia-Sagredo JM, Lopez-Abente G., Frequency and characteristic of familial aggregation of Paget's disease of bone. J Bone Miner Res. 1995; 10: 663-670.
27. Seton M, Choi HK, Hansen MF, Sebaldt RJ, Cooper C., Analysis of environmental factors in familial versus sporadic Paget's disease of bone - the New England Registry for Paget's disease of bone. J Bone Miner Res. 2003; 18: 1519-1524.
28. Merlotti D, Gennari L, Galli B, et al. Characteristics and familial aggregation of Paget's disease of bone in Italy. J Bone Miner Res. 2005; 20: 1356-1364.
29. Fotino M, Haymovits A, Falk CT., Evidence for linkage between HLA and Paget's disease. Transplant Proc. 1977; 9: 1867-1868.
30. Tilyard MW, Gardner RJ, Milligan L, Cleary TA, Stewart RD., A probable linkage between familial Paget's disease and the HLA loci. Aust N Z J Med. 1982; 12: 498-500.
31. Cody JD, Singer FR, Roodman GD, et al. Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet. 1997; 61: 1117-1122.
32. Haslam SI, Van Hul W, Morales-Piga A, et al. Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. J Bone Miner Res. 1998; 13: 911-917.
33. Hocking LJ, Herbert CA, Nicholls RK, et al. Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. Am J Hum Genet. 2001; 69: 1055-1061.
34. Laurin N, Brown JP, Lemainque A, et al. Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet. 2001; 69: 528-543.
35. Good DA, Busfield F, Fletcher BH, et al. Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet. 2002; 70: 517-525.
36. Hocking L, Slee F, Haslam SI, et al. Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q. Bone. 2000; 26: 577-580.
37. Good DA, Busfield F, Fletcher BH, et al. Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. Bone. 2004; 35: 277-282.
38. Wuyts W, Van Wesenbeeck L, Morales-Piga A, et al. Evaluation of the role of RANK and OPG genes in Paget's disease of bone. Bone. 2001; 28: 104-107.
39. Sparks AB, Peterson SN, Bell C, et al. Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. Calcif Tissue Int. 2001; 68: 151-155.
40. Marco-Mingot M, San-Millan JL, Wuyts W, Bachiller-Corral J, Van Hul W, Morales-Piga AA., Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone. Clin Genet. 2001; 60: 86-88.
41. Lucas GJ, Riches PL, Hocking LJ, et al. Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent. J Bone Miner Res. 2008; 23: 58-63.
42. Laurin N, Brown JP, Morissette J, Raymond V., Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet. 2002; 70: 1582-1588.
43. Hocking LJ, Lucas GJ, Daroszewska A, et al. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet. 2002; 11: 2735-2739.
44. Rea SL, Walsh JP, Ward L, et al. A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. J Bone Miner Res. 2006; 21: 1136-1145.
45. Johnson-Pais TL, Wisdom JH, Weldon KS, et al. Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res. 2003; 18: 1748-1753.
46. Falchetti A, Di Stefano M, Marini M, et al. Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). J Bone Miner Res. 2004; 19: 1013-1017.
47. Eekhoff EW, Karperien M, Houtsma D, et al. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum. 2004; 50: 1650-1654.
48. Beyens G, Wuyts W, Cleiren E, De Freitas F, Tiegs R, Van Hul W., Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family. Calcif Tissue Int. 2006; 79: 281-288.
49. Collet C, Michou L, Audran M, et al. Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res. 2007; 22: 310-317.
50. Chung PY, Beyens G, Guanabens N, et al. Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's disease of bone. Calcif Tissue Int. 2008; 83: 34-42.
51. Falchetti A, Di Stefano M, Marini F, et al. Genetic epidemiology of Paget's disease of bone in Italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone. Calcif Tissue Int. 2009; 84: 20-37.
52. Mossetti G, Gennari L, Rendina D, et al. Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone. Calcif Tissue Int. 2008; 83: 414-424.
53. Morissette J, Laurin N, Brown JP., Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res. 2006; 21 (Suppl 2): P38-44.
54. Lucas GJ, Hocking LJ, Daroszewska A, et al. Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. J Bone Miner Res. 2005; 20: 227-231.
55. Rhodes EC, Johnson-Pais TL, Singer FR, et al. Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States. Calcif Tissue Int. 2008; 82: 271-277.
56. Falchetti A, Di Stefano M, Marini F, et al. Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family. Arthritis Res Ther. 2005; 7: R1289-1295.
57. Gennari L, Merlotti D, Martini G, Nuti R., Paget's disease of bone in Italy. J Bone Miner Res. 2006; 21 (Suppl 2): P14-21.
58. Hocking LJ, Lucas GJ, Daroszewska A, et al. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res. 2004; 19: 1122-1127.
59. Najat D, Garner T, Hagen T, et al. Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone. J Bone Miner Res. 2009; 24: 632-642.
60. Rea SL, Walsh JP, Ward L, et al. Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding. J Bone Miner Res. 2009; 24: 1216-1223.
61. Hughes AE, Shearman AM, Weber JL, et al. Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet. 1994; 3: 359-361.
62. Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000; 24: 45-48.
63. Whyte MP, Hughes AE., Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res. 2002; 17: 26-29.
64. Nakatsuka K, Nishizawa Y, Ralston SH., Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. J Bone Miner Res. 2003; 18: 1381-1385.
65. Johnson-Pais TL, Singer FR, Bone HG, McMurray CT, Hansen MF, Leach RJ., Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis. J Bone Miner Res. 2003; 18: 376-380.
66. Palenzuela L, Vives-Bauza C, Fernandez-Cadenas I, et al. Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene. J Med Genet. 2002; 39: E67.
67. Whyte MP, Reinus WR, Podgornik MN, Mills BG., Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred. Medicine (Baltimore). 2002; 81: 101-121.
68. Elahi E, Shafaghati Y, Asadi S, et al. Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation. J Bone Miner Metab. 2007; 25: 159-164.
69. Theoleyre S, Wittrant Y, Tat SK, Fortun Y, Redini F, Heymann D., The molecular triad OPG/RANK/RANKL: Involvement in the orchestration of pathophysiological bone remodeling. Cytokine Growth Factor Rev. 2004; 15: 457-475.
70. Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008; 83: 64-76.
71. Daroszewska A, Hocking LJ, Mcguigan FE, et al. Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin. J Bone Miner Res. 2004; 19: 1506-1511.
72. Beyens G, Daroszewska A, De Freitas F, et al. Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone. J Bone Miner Res. 2007; 22: 1062-1071.
73. Miller SA, Dykes DD, Polesky HF., A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16: 1215.
74. Beyens G, Van Hul E, Van Driessche K, et al. Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease. Calcif Tissue Int. 2004; 75: 144-1152.
75. Purcell S, Cherny SS, Sham PC., Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003; 19: 149-150.
76. Yoon DY, Rippel CA, Kobets AJ, et al. Dopaminergic polymorphisms in Tourette syndrome: association with the DAT gene (SLC6A3). Am J Med Genet B Neuropsychiatr Genet. 2007; 144B: 605-610.
77. Campbell CD, Ogburn EL, Lunetta KL, et al. Demonstrating stratification in a European American population. Nat Genet. 2005; 37: 868-872.
78. Pritchard JK, Stephens M, Donnelly P., Inference of population structure using multilocus genotype data. Genetics. 2000; 155: 945-959.
79. The International HapMap Consortium. A haplotype map of the human genome. Nature. 2005; 437: 1299-1320.
80. Barrett JC, Fry B, Maller J, Daly MJ., Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005; 21: 263-265.
81. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D., Efficiency and power in genetic association studies. Nat Genet. 2005; 37: 1217-1223.
82. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81: 559-575.
83. Whyte MP., Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. Ann N Y Acad Sci. 2006; 1068: 143-164.
84. Cundy T, Hegde M, Naot D, et al. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet. 2002; 11: 2119-2127.
85. Whyte MP, Obrecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002; 347: 175-184.
86. Hsu YH, Niu T, Terwedow HA, et al. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet. 2006; 118: 568-577.
87. Koh JM, Park BL, Kim DJ, et al. Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women. Osteoporos Int. 2007; 18: 323-331.
88. Choi JY, Shin A, Park SK, et al. Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women. Calcif Tissue Int. 2005; 77: 152-159.