Document Detail

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.
MedLine Citation:
PMID:  21777208     Owner:  NLM     Status:  MEDLINE    
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case-control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis.
Ayda Khalfallah; Isabelle Schrauwen; Malek Mnejja; Hassen HadjKacem; Leila Dhouib; Mohamed Ali Mosrati; Bochra Hakim; Imed Lahmar; Ilhem Charfeddine; Nabil Driss; Hammadi Ayadi; Abdelmonem Ghorbel; Guy Van Camp; Saber Masmoudi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-07-21
Journal Detail:
Title:  Annals of human genetics     Volume:  75     ISSN:  1469-1809     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-08-12     Completed Date:  2011-10-03     Revised Date:  2011-11-28    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  598-604     Citation Subset:  IM    
Copyright Information:
© 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London.
Equipe Procédés de Criblages Moléculaires et Cellulaires, Laboratoire de Microorganismes et de Biomolécules, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisie.
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MeSH Terms
Collagen Type I / genetics*
Middle Aged
Otosclerosis / genetics*
Polymorphism, Single Nucleotide*
Transforming Growth Factor beta1 / genetics*
Reg. No./Substance:
0/Collagen Type I; 0/Transforming Growth Factor beta1; 0/collagen type I, alpha 1 chain

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