Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: Evidence for a shared genetic etiology with osteoporosis

Otology and Neurotology

Volumn 25, Issue 4, 2004, Pages 447-450

  McKenna, Michael J ^a,b   Nguyen Huynh, Anh T ^a,b   Kristiansen, Arthur G ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

COL1A1; Collagen; Osteoporosis; Otosclerosis; Sp1; Transcription

Indexed keywords

COLLAGEN; DNA; RESTRICTION ENDONUCLEASE; TRANSCRIPTION FACTOR SP1;

ADULT; ARTICLE; BINDING SITE; COL1A1 GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILIAL DISEASE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; OTOSCLEROSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; RETINA MACULA AGE RELATED DEGENERATION;

AGED; AGED, 80 AND OVER; BINDING SITES; BONE DENSITY; CASE-CONTROL STUDIES; COLLAGEN TYPE I; HUMANS; MIDDLE AGED; OSTEOPOROSIS; OTOSCLEROSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RESTRICTION MAPPING; SP1 TRANSCRIPTION FACTOR;

EID: 4043131873     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200407000-00008     Document Type: Article

References (34)

1. Bretlau P. Relation of the otosclerotic focus to the fissula antefenestram. J Laryngol Otol 1969;83:1185-1193.
2. Guneri EA, Ada E, Ceryan K, et al. High-resolution computed tomographic evaluation of the cochlear capsule in otosclerosis: relationship between densitometry and sensorineural hearing loss. Ann Otol Rhinol Laryngol 1996;105:659-664.
3. Shin YJ, Fraysse B, Deguine O, et al. Sensorineural hearing loss and otosclerosis: a clinical and radiologic survey of 437 cases. Acta Otolaryngol 2001;121:200-204.
4. Causse JR, Causse JB. Otospongiosis as a genetic disease. Early detection, medical management, and prevention. Am J Otol 1984;5:211-223.
5. Tomek MS, Brown MR, Mani SR, et al. Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mol Genet 1998;7:285-290.
6. Van Den Bogaert K, Govaerts PJ, Schatteman I, et al. A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet 2001;68:495-500.
7. Chen W, Campbell CA, Green GE, et al. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet 2002;39:473-477.
8. McKenna MJ, Kristiansen AG, Bartley ML, et al. Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 1998;19:604-610.
9. Haboubi NY, Hudson PR. Factors associated with Colles' fracture in the elderly. Gerontology 1991;37:335-338.
10. Clark K, Sowers MR, Wallace RB, et al. Age-related hearing loss and bone mass in a population of rural women aged 60 to 85 years. Ann Epidemiol 1995;5:8-14.
11. Grant SF, Reid DM, Blake G, et al. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996;14:203-205.
12. Langdahl BL, Ralston SH, Grant SF, et al. An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 1998;13:1384-1389.
13. McGuigan FE, Reid DM, Ralston SH. Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus. Osteoporos Int 2000;11:338-343.
14. Peris P, Alvarez L, Oriola J, et al. Collagen type I alpha1 gene polymorphism in idiopathic osteoporosis in men. Rheumatology (Oxford) 2000;39:1222-1225.
15. Roux S. The genetics of osteoporosis. Joint Bone Spine 2001;68:482-486.
16. McGuigan FE, Armbrecht G, Smith R, et al. Prediction of osteoporotic fractures by bone densitometry and COL1A1 genotyping: a prospective, population-based study in men and women. Osteoporos Int 2001;12:91-96.
17. Rossouw CM, Vergeer WP, du Plooy SJ, et al. DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription. J Biol Chem 1987;262:15151-15157.
18. Liska DJ, Robinson VR, Bornstein P. Elements in the first intron of the alpha 1(I) collagen gene interact with Sp1 to regulate gene expression. Gene Expr 1992;2:379-389.
19. Li L, Artlett CM, Jimenez SA, et al. Positive regulation of human alpha 1 (I) collagen promoter activity by transcription factor Sp1. Gene 1995;164:229-234.
20. Mann V, Hobson EE, Li B, et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107:899-907.
21. Sambrook JFE, Maniatis T. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, 1989:916-919.
22. Vinkanharju A, Melkko T, Risteli J, et al. New PCR-based method for the Sp1 site polymorphism in the COL1A1 gene. Clin Chem Lab Med 2001;39:624-626.
23. Shambaugh GE Jr. Further experiences with moderate dosage sodium fluoride for sensorineural hearing loss, tinnitus and vertigo due to otospongiosis. Adv Otorhinolaryngol 1977;22:35-42.
24. Causse JR, Causse JB, Uriel J, et al. Sodium fluoride therapy. Am J Otol 1993;14:482-490.
25. Vartiainen E, Karjalainen S, Nuutinen J, et al. Effect of drinking water fluoridation on hearing of patients with otosclerosis in a low fluoride area: a follow-up study. Am J Otol 1994;15:545-548.
26. Vartiainen E, Vartiainen J. The effect of drinking water fluoridation on the natural course of hearing in patients with otosclerosis. Acta Otolaryngol 1996;116:747-750.
27. Bretlau P, Salomon G, Johnsen NJ. Otospongiosis and sodium fluoride. A clinical double-blind, placebo-controlled study on sodium fluoride treatment in otospongiosis. Am J Otol 1989;10:20-22.
28. Ravn P. Bisphosphonates for prevention of postmenopausal osteoporosis. Dan Med Bull 2002;49:1-18.
29. Sickels JM, Nip CS. Risedronate for the prevention of fractures in postmenopausal osteoporosis. Ann Pharmacother 2002;36:664-670.
30. Bilezikian JP, Kurland ES. Therapy of male osteoporosis with parathyroid hormone. Calcif Tissue Int 2001;69:248-251.
31. Fujita T. Parathyroid hormone in the treatment of osteoporosis. BioDrugs 2001;15:721-728.
32. Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55:638-647.
33. Redford-Badwal DA, Stover ML, Valli M, et al. Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J Clin Invest 1996;97:1035-1040.
34. Willing MC, Deschenes SP, Slayton RL, et al. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 1996;59:799-809.