Otosclerosis: association of COLIA1 Sp1 binding site polymorphism in Alexandria, Egypt

1. Cohen J. The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet. 2006; 140: 2646-706.10.1002/ajmg.a.3136817103447Search in Google Scholar

2. Altmann F, Glasgold A, Macduff JP. The incidence of otosclerosis as related to race and sex. Ann Otol Rhinol Laryngol. 1967; 76:377-92.10.1177/0003489467076002076028664Open DOISearch in Google Scholar

3. Gordon MA. The genetics of otosclerosis. Am J Otol. 1989; 10:426-38.Search in Google Scholar

4. Niedermeyer HP, Arnold W. Etiopathogenesis of otosclerosis. ORL J Otorhinolaryngol Relat Spec. 2002; 64:114-9.10.1159/00005778912021502Open DOISearch in Google Scholar

5. Chole RA, Mckenna M. Pathophysiology of otosclerosis. Otol Neurotol. 2001; 22:249-57.10.1097/00129492-200103000-0002311300278Open DOISearch in Google Scholar

6. Menger DJ, Tange RA. The aetiology of otosclerosis: a review of the literature. Clin Otolaryngol. 2003; 28: 112-20.10.1046/j.1365-2273.2003.00675.x12680829Open DOISearch in Google Scholar

7. Toynbee J. Pathological and surgical observations on the disease of the ear. Med Chir Trans. 1861; 24: 190-205.Search in Google Scholar

8. Fowler EP. Otosclerosis in identical twins:a study of 40 pairs. Arch Otolaryngol. 1966; 83:324-8.10.1001/archotol.1966.007600203260065907023Open DOISearch in Google Scholar

9. Gapany-Gapanavicius B. Otosclerosis: genetic and surgical rehabilitation. Halsted Press, New York, 1975.Search in Google Scholar

10. Causse JR, Causse JB. Otospongiosis as a genetic disease. Am J Otol. 1984; 5:211-23.Search in Google Scholar

11. Markou K, Goudakos J: An overview of the etiology of otosclerosis. Eur Arch Otorhinolaryngol. 2009; 266: 25-35.10.1007/s00405-008-0790-x18704474Search in Google Scholar

12. Willing MC, Deschenes SP, Slayton RL, Roberts EJ. 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.Search in Google Scholar

13. McKenna MJ, Kristiansen AG, Tropitzsch AS. Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. Ann Otol Rhinol Laryngol. 2002; 111:184-9.10.1177/00034894021110021411860074Open DOISearch in Google Scholar

14. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp 1 binding site in the collagen type I alpha 1 gene. Nat Genet. 1996; 14: 203-5.10.1038/ng1096-2038841196Search in Google Scholar

15. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, et al. A COL1A1 Sp 1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest. 2001; 107:899-907.10.1172/JCI1034719956811285309Search in Google Scholar

16. McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL. Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol. 1998; 19:604-10.Search in Google Scholar

17. Jin H, Stewart TL, Hof RV, Reid DM, Aspden RM, Ralston S. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. J Bone Miner Res. 2009; 24: 448-54.10.1359/jbmr.08111119016596Open DOISearch in Google Scholar

18. Garcia-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogues X, Carreras R, et al. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone. 2005; 36:902-8.10.1016/j.bone.2004.12.01215814304Open DOISearch in Google Scholar

19. SambrookJFE, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor, New York, 1989.Search in Google Scholar

20. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha gene. Nat Genet. 1996; 14: 203-5.10.1038/ng1096-2038841196Open DOISearch in Google Scholar

21. Frisch T, Sorensen MS, Overgaard S, Bretlau P. Estimation of volume referent bone turnover in the otic capsule after sequential point labeling. Ann Otol Rhinol Laryngol. 2000; 109:33-9.10.1177/00034894001090010610651409Open DOISearch in Google Scholar

22. Morrison AW. Genetic factors in otosclerosis. Ann R Coll Surg Engl. 1967; 41:202-37.Search in Google Scholar

23. Gapany-Gapanavicius B. The incidence of otosclerosis in the general population. Isr J Med Sci. 1975; 11: 465-68.Search in Google Scholar

24. Larsson A. Otosclerosis: a genetic and clinical study. Acta Otolaryngol Suppl. 1960; 154:1-86.Search in Google Scholar

25. Morrison AW, Bundey SE. The inheritance of otosclerosis. J Laryngol Otol. 1970; 84:921-32.10.1017/S0022215100072698Open DOISearch in Google Scholar

26. Niedermeyer HP, Arnold W. Etiopathogenesis of otosclerosis. ORL. 2002; 64:114-9.10.1159/00005778912021502Open DOISearch in Google Scholar

27. Menger DJ, Tange RA. The aetiology of otosclerosis: a review of the literature. Clin Otolaryngol Allied Sci. 2003; 28:112-20.10.1046/j.1365-2273.2003.00675.x12680829Open DOISearch in Google Scholar

28. Vartiainen E. Sex differences in patients with hearing impairments caused by otosclerosis. Eur Arch Otorhinolaryngol. 1999; 256:431-3.10.1007/s00405005018210552219Search in Google Scholar

29. Ralston SH, De Crombrugghe B. Genetic regulation of bone mass an susceptibility to osteoporosis. Genes Dev. 2007; 20:2492-506.10.1101/gad.144950616980579Open DOISearch in Google Scholar

30. Ralston SH, Uitterlinden AG, Brandi ML, Balcells S, Langdahl BL, Lips P, et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. Plos Med. 2006; 3:515-23.Search in Google Scholar

31. Mann V, Hobson EE, Li B. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest. 2001; 107:899-907.10.1172/JCI1034719956811285309Search in Google Scholar

32. McKenna MJ, Nguyen-Huynh AT, Kristiansen AG. Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. Otol Neurotol. 2004; 25:447-50. 10.1097/00129492-200407000-0000815241219Open DOISearch in Google Scholar

33. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, et al. COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest. 2001; 107:899-907.10.1172/JCI1034719956811285309Search in Google Scholar

34. Stewart TL, Roschger P, Misof BM, Mann V, Fratzl P, Klaushofer K, et al. Association of COLIA1 Sp1 alleles with defective bone nodule formation in vitro and abnormal bone mineralisation in vivo. Calcif Tissue Int. 2005; 77:113-8.10.1007/s00223-004-0188-815895281Open DOISearch in Google Scholar

35. Chen W, Meyer NC, McKenna MJ, PWster M, McBride DJ, Fukushima K, et al. Single nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clin Genet. 2007; 71: 406-14.10.1111/j.1399-0004.2007.00794.x17489845Open DOISearch in Google Scholar

36. Khalfallah A, Schrauwen I, Mnejja M, HadjKacem H, Dhouib L, Mosrati MA, el al. Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population. Ann Hum Genet. 2011; 75: 598-604.10.1111/j.1469-1809.2011.00665.x21777208Open DOISearch in Google Scholar

37. Rodriguez L, Rodriguez S, Hermida J, Frade C, Sande E, Visedo G, et al. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. Am J Med Genet. 2004; 128:19-22. 10.1002/ajmg.a.3007415211650Search in Google Scholar