title: Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.
abstract: 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.
authors.affiliation: Equipe Procédés de Criblages Moléculaires et Cellulaires, Laboratoire de Microorganismes et de Biomolécules, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisie. khalfalla_ayda@yahoo.fr
authors.forename: Ayda
authors.initials: A
authors.lastname: Khalfallah
authors.forename: Isabelle
authors.initials: I
authors.lastname: Schrauwen
authors.forename: Malek
authors.initials: M
authors.lastname: Mnejja
authors.forename: Hassen
authors.initials: H
authors.lastname: HadjKacem
authors.forename: Leila
authors.initials: L
authors.lastname: Dhouib
authors.forename: Mohamed Ali
authors.initials: MA
authors.lastname: Mosrati
authors.forename: Bochra
authors.initials: B
authors.lastname: Hakim
authors.forename: Imed
authors.initials: I
authors.lastname: Lahmar
authors.forename: Ilhem
authors.initials: I
authors.lastname: Charfeddine
authors.forename: Nabil
authors.initials: N
authors.lastname: Driss
authors.forename: Hammadi
authors.initials: H
authors.lastname: Ayadi
authors.forename: Abdelmonem
authors.initials: A
authors.lastname: Ghorbel
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Saber
authors.initials: S
authors.lastname: Masmoudi
mesh_terms: D000328:Adult; D000368:Aged; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010040:Otosclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D014416:Tunisia
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D053773:Transforming Growth Factor beta1