Association of a polymorphism in the TNFR2 gene with low bone mineral density

Journal of Bone and Mineral Research

Volumn 15, Issue 7, 2000, Pages 1376-1383

  Spotila, Laretta D ^a   Rodriguez, H ^a   Koch, M ^a   Adams, K ^a   Caminis, J ^b,c   Tenenhouse, H S ^d   Tenenhouse, A ^b  

^a DREXEL UNIVERSITY   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c HOFFMANN LA ROCHE INC   (United States)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Genetic polymorphism; Osteoporosis; TNFR2

Indexed keywords

MICROSATELLITE DNA; TUMOR NECROSIS FACTOR RECEPTOR;

ADULT; ALLELE; ARTICLE; BONE DENSITY; BONE MINERAL; CHROMOSOME 1P; FEMALE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; OSTEOPOROSIS;

EID: 0034089081     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.7.1376     Document Type: Article

References (45)

1. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH 1996 Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene. Nat Genet 14:203-205.
2. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, Hofman A, van Leeuwen JP, Pols HA, Ralston SH 1998 Relation of alleles of the collagen type I alpha 1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016-1021.
3. Langdahl BL, Ralston SH, Grant SFA, Erikson EF 1998 An SpI binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 13:1384-1389.
4. Keen RW, Woodford-Richens KL, Grant SF, Ralston SH, Lanchbury JS, Spector TD 1999 Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum 42:285-290.
5. Sainz J, Van Turnout JM, Sayre J, Kaufman F, Gilsanz V 1999 Association of collagen type 1 alpha 1 gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab 84:853-855.
6. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA 1994 Prediction of bone density from vitamin D receptor alleles. Nature 367:284-287.
7. Cooper GS, Umbach DM 1996 Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res 11:1841-1849.
8. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D 1996 The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11:1850-1855.
9. Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D 1997 The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res 12:1043-1048.
10. Ferrari S, Rizzoli R, Manen D, Slosman D, Bonjour J-P 1998 Vitamin D receptor gene start codon polymorphisms (FokI) and bone mineral density: Interaction with age, dietary calcium, and 3′-end region polymorphisms. J Bone Miner Res 13:925-930.
11. Hosoi T, Miyao M, Inoue S, Hoshin S, Shiraki M, Orimo H, Ouchi Y 1999 Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women. Calcif Tissue Int 64:205-208.
12. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD 1999 Genetic control of the cirulating concentration of transforming growth factor type beta 1. Hum Mol Genet 8:93-97.
13. Taboulet J, Frenkian M, Frendo JL, Feingold N, Jullienne A, de Vernejoul MC 1998 Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women. Hum Mol Genet 7:2129-2133.
14. Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML 1998 Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. Biochem Biophys Res Commun 248:190-195.
15. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H 1996 Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Metab 11:306-311.
16. Deng HW, Li J, Li JL, Johnson M, Gong G, Davis KM, Recker RR 1998 Change in bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes. Hum Genet 103:576-585.
17. Ognphiphadhanakul B, Rajatanavin R, Chanprasertyothin S, Piaseu N, Chailurkit L, Sirsriro R, Komindr S 1998 Estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women but not in postmenopausal women. J Endocnnol Invest 21:487-493.
18. Rosen CJ, Kurland ES, Vereault D, Adler RA, Rackoff PJ, Craig WY, Witte S, Rogers J, Bilezikian JP 1998 Association between serum insulin growth factor 1 (IGF-1) and a simple sequence repeat in IGF-1 gene: Implications for genetic studies of bone mineral density. J Clin Endocrinol Metab 83: 2286-2290.
19. Miyao M, Hosoi F, Inoue S, Hoshino S, Shiraki M, Orimo H, Ouchi Y 1998 Polymorphism of insulin-like growth factor I gene and bone mineral density. Calcif Tissue Int 63:306-311
20. Keen RW, Woodford-Richens KL, Lanchbury JS, Spector TD 1998 Allelic variation at the interleukin-1 receptor antagonist gene is associated with early postmenopausal bone loss at the spine. Bone 23:367-371.
21. Murray RE, McGuigan F, Grant SF, Ralston SH 1997 Polymorphisms of the interleukin-6 gene are associated with bone mineral density. Bone 21:89-92.
22. Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD 1998 First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 6:151-157.
23. Spotila LD, Devoto M, Caminis J, Kosich R, Korkko J, Ott J, Tenenhouse A, Prockop DJ, 1998 Suggested linkage of low bone density to chromosome 1p36 is extended to a second cohort of sib pairs. J Bone Miner Res 23:8277.
24. Smith CA, Davis T, Anderson D, Solam L, Beckmann MP, Jerzy R, Dower SK, Cosman D, Goodwin RG 1990 A receptor for tumor necrosis factor defines an unusual family of cellular and viral proteins. Science 248:1019-1023.
25. Hsu H, Lacey DL, Dunstan CR, Solovyev I, Colombero A, Timms E, Tan HL, Elliott G, Kelley MJ, Sarosi I, Wang L, Xia XZ, Elliot R, Chiu L, Black T, Scully S, Capparelli C, Morony S, Shimamoto G, Bass MB, Boyle WJ 1999 Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand. Proc Natl Acad Sci U.S.A. 96:3540-3545.
26. Ralston SH 1994 Analysis of gene expression in human bone biopsies by polymerase chain reaction: Evidence for enhanced cytokine expression in postmenopausal osteoporosis. J Bone Miner Res 9:883-890.
27. Kurokouchi K, Kambe F, Yasukawa K, Izumi R, Ishiguro N, Iwata H. Seo H 1998 TNF-α increases expression of IL-6 and ICAM-1 genes through activation of NF-KB in osteoblast-like ROS17/2.8 cells. J Bone Miner Res 13:1290-1299.
28. Rothe M, Sarma V, Dixit VM, Goeddel DV 1995 TRAF2-mediated activation of NF-KB by TNFR receptor 2 and CD40. Science 269:1424-1427.
29. Galibert L, Tometsko ME, Anderson DM, Cosman D, Dougall WC 1998 The involvement of multiple tumor necrosis factor receptor (TNFR)-associated factors in the signaling mechanisms of receptor activator of NF-kappaB, a member of the TNFR superfamily. J Biol Chem 273:34120-34127.
30. Kobayasi K, Takahashi N, Jimi E, Udagawa N, Takami M, Nakagawa N, Kinosaki M, Yamaguchi K, Shima N, Yasuda H, Higashio K, Suda T 1999 Tumor necrosis factor α (TNFα) stimulates osteoclast differentiation by a mechanism independent of the ODF/RANK signaling system. J Bone Miner Res 14(Suppl1):S149.
31. Beltinger CP, White PS, Maris JM, Sulman EP, Jensen SF, LePaslier D, Stallard BJ, Goeddel DV, De Sauvage FJ, Broudeur GM 1996 Physical mapping and genomic structure of the human TNFR2 gene. Genomics 35:94-100.
32. Kaufman BA, White PS, Steinbrueck T, Donis-Keller H, Brodeur GM 1994 Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique. Hum Genet 94:418-422.
33. White PS, Kaufman BA, Marshall HN, Brodeur GM 1993 Use of the single-strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma. Genes Chromosomes Cancer 7:102-108.
34. White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look T, Enomoto H, Sakiyama S, Brodeur GM 1995 A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci U.S.A. 92:5520-5524.
35. White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM 1997 Molecular analysis of the region of distal 1, commonly deleted in neuroblastoma. Eur J Cancer 33:1957-1961.
36. Kaufman BA, White PS, Brodeur G 1993 A complex single strant conformational polymorphism (SSCP) in the tumor necrosis factor receptor (TNFR2) gene on chromosome 1p36.2. Hum Mol Genet 2:824.
37. Spotila LD, Caminis J, Devoto M, Shimoya K, Sereda L, Ott J, Whyte MP, Tenenhouse A, Prockop DJ 1996 Osteopenia in 37 members of seven families: Analysis based on a model of dominant inheritance. Mol Med 2:313-324.
38. Spotila LS, Caminis J, Johnston R, Shimoya KS, O'Connor MP, Prockop DJ, Tenenhouse A, Tenenhouse HS 1996 Vitamin D receptor genotype is not associated with bone mineral density in three ethnic/regional groups. Calcif Tissue Int 59: 235-237.
39. Ganguly A, Rock MJ, Prockop DJ 1993 Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U.S.A. 93:13721-13725.
40. Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RB 1997 Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 60:1326-1332.
41. Crofts LA, Hancock MS, Morrison NA, Eisman JA 1998 Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts. Proc Natl Acad Sci U.S.A. 95:10529-10534.
42. Brown CY, Lagnada CA, Goodall GJ 1996 A cytokine mRNA-destabilizing element that is structurally and functionally distinct from A + U-rich elements. Proc Natl Acad Sci U.S.A. 93:13721-13725.
43. Wang E, Ma W-J Aghajanian C, Spriggs DR 1997 Posttranscriptional regulation of protein expression in human epithelial carcinoma cells by adenine-uridine-rich elements in the 3′-untranslated region of tumor necrosis factor-a messenger RNA. Cancer Res 57:5426-5433.
44. White PS, Sulman EP, Porter CJ, Matise TC 1999 A comprehensive view of human chromosome 1. Genome Res 9:978-988.
45. Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R 1992 Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3-p36.2. Genomics 13:62-69.