HYPOTHESIS: There is an association between otosclerosis and osteoporosis. BACKGROUND: Both osteoporosis and otosclerosis are common bone diseases to which relatively large portions of the population are genetically predisposed. Recently, a strong association has been described between osteoporosis and an Sp1 binding site of putative functional significance in the first intron of the COL1A1 gene. METHODS: We applied polymerase chain reaction-based restriction enzyme analysis to determine the polymorphic distribution of the Sp1 site in 100 patients with otosclerosis and 108 control subjects. RESULTS: This study showed a significant association between otosclerosis and the COL1A1 first intron Sp1 site. The allelic frequency of the Sp1 site is very similar between otosclerosis and osteoporosis. CONCLUSION: Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.
HYPOTHESIS: There is an association between otosclerosis and osteoporosis. BACKGROUND: Both osteoporosis and otosclerosis are common bone diseases to which relatively large portions of the population are genetically predisposed. Recently, a strong association has been described between osteoporosis and an Sp1 binding site of putative functional significance in the first intron of the COL1A1 gene. METHODS: We applied polymerase chain reaction-based restriction enzyme analysis to determine the polymorphic distribution of the Sp1 site in 100 patients with otosclerosis and 108 control subjects. RESULTS: This study showed a significant association between otosclerosis and the COL1A1 first intron Sp1 site. The allelic frequency of the Sp1 site is very similar between otosclerosis and osteoporosis. CONCLUSION: Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.
Authors: Woo Seok Kang; Shuting Sun; Kim Nguyen; Boris Kashemirov; Charles E McKenna; S Adam Hacking; Alicia M Quesnel; William F Sewell; Michael J McKenna; David H Jung Journal: Otol Neurotol Date: 2015-07 Impact factor: 2.311
Authors: Péter Csomor; Balázs Liktor; Bálint Liktor; István Sziklai; Tamás Karosi Journal: Eur Arch Otorhinolaryngol Date: 2011-12-01 Impact factor: 2.503
Authors: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Nele Dieltjens; Jeroen R Huyghe; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp Journal: J Bone Miner Res Date: 2008-04 Impact factor: 6.741
Authors: Megan Ealy; Nicole C Meyer; Johnny Cruz Corchado; Isabelle Schrauwen; Andreas Bress; Markus Pfister; Guy Van Camp; Richard J H Smith Journal: Otol Neurotol Date: 2014-03 Impact factor: 2.311
Authors: Susan G Stanton; Terry-Lynn Young; Nelly Abdelfatah; Ahmed A Mostafa; Curtis R French; Lance P Doucette; Cindy Penney; Matthew B Lucas; Anne Griffin; Valerie Booth; Christopher Rowley; Jessica E Besaw; Lisbeth Tranebjærg; Nanna Dahl Rendtorff; Kathy A Hodgkinson; Leichelle A Little; Sumit Agrawal; Lorne Parnes; Tony Batten; Susan Moore; Pingzhao Hu; Justin A Pater; Jim Houston; Dante Galutira; Tammy Benteau; Courtney MacDonald; Danielle French; Darren D O'Rielly Journal: Hum Genet Date: 2021-10-11 Impact factor: 5.881