PMID: 15241219Jul 9, 2004Paper

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

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Michael J McKennaArthur G Kristiansen

Abstract

There is an association between otosclerosis and osteoporosis. 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. 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. 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. 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.

References

Jan 1, 1991·Gerontology·N Y Haboubi, P R Hudson
Dec 1, 1969·The Journal of Laryngology and Otology·P Bretlau
Feb 15, 1996·The Journal of Clinical Investigation·D A Redford-BadwalD W Rowe
Mar 21, 1998·Human Molecular Genetics·M S TomekR J Smith
Sep 17, 1998·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·B L LangdahlE F Eriksen
Aug 6, 2000·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·F E McGuiganS H Ralston
Nov 21, 2000·Rheumatology·P PerisJ Muñoz-Gómez
Feb 15, 2001·American Journal of Human Genetics·K Van Den BogaertG Van Camp
Apr 17, 2001·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·F E McGuiganS H Ralston
Aug 28, 2001·Clinical Chemistry and Laboratory Medicine : CCLM·A VinkanharjuL Risteli
Nov 15, 2001·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·T Fujita
Dec 4, 2001·Calcified Tissue International·J P Bilezikian, E S Kurland
Jan 26, 2002·Joint, Bone, Spine : Revue Du Rhumatisme·S Roux
Mar 29, 2002·The Annals of Pharmacotherapy·Jennifer M Sickels, Chi-Sing Nip
Jul 13, 2002·Journal of Medical Genetics·W ChenR J H Smith

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Citations

Apr 11, 2012·American Journal of Medical Genetics. Part a·Isabelle SchrauwenGuy Van Camp
May 5, 2009·La Revue du praticien·Yoann PonsClaude Conessa
Sep 16, 2006·Current Opinion in Otolaryngology & Head and Neck Surgery·Konstantina M Stankovic, Michael J McKenna
Aug 16, 2008·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Konstantinos Markou, John Goudakos
Jun 10, 2010·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Tamás Karosi, István Sziklai
Dec 2, 2011·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Péter CsomorTamás Karosi
May 4, 2013·American Journal of Otolaryngology·Yavuz Selim YıldırımAli Osman Arslan
Apr 23, 2013·American Journal of Otolaryngology·Omer Cagatay ErtugaySemra Kulekci
Jun 23, 2015·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·S B TonukS Alkan Temel
Jul 18, 2009·Hearing Research·Megan Ealy, Richard J H Smith
Dec 15, 2015·Auris, Nasus, Larynx·Doğan AtanHüseyin Dere
Nov 21, 2007·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Isabelle SchrauwenGuy Van Camp
Jun 1, 2010·The Laryngoscope·Isabelle Schrauwen, Guy Van Camp
Aug 23, 2007·American Journal of Physiology. Endocrinology and Metabolism·Kathleen C HornerNicole Sauze
Jul 4, 2019·Computer Methods in Biomechanics and Biomedical Engineering·Lei ZhouXinsheng Huang
Feb 5, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Megan EalyRichard J H Smith
May 8, 2020·Genetic Testing and Molecular Biomarkers·Kirtal HansdahPuppala Venkat Ramchander
May 23, 2015·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Woo Seok KangDavid H Jung
Mar 5, 2020·Ear, Nose, & Throat Journal·Yongli ZhangZhiqiang Gao
Mar 6, 2018·Otolaryngologic Clinics of North America·Thomas A Babcock, Xue Zhong Liu
May 29, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Ryan J CarlsonJay Rubinstein

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