title: Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.
abstract: The etiology of otosclerosis is unknown. The etiopathogenesis of otosclerosis seems similar to that occurring in Paget's disease of bone, for which mutations or polymorphisms in several genes have been identified. Among these, TNFRSF11B gene encoding the osteoprotegerin is produced at high levels in the normal inner ear and at low level in active otosclerotic stapes footplates. The aim of this work was to verify the presence of a correlation between the rs2073618 (N3K) polymorphism in the TNFRSF11B gene and otosclerosis. Mutational screening in the TNFRSF11B gene was performed by direct sequencing. SNPs analysis was performed by PCR and by specific restriction enzyme assay with HpaI. The significance of the association was analyzed by statistical specific software. No causative mutation has been identified but the data suggested a strong correlation between the rs2073618 (N3K) polymorphism and otosclerosis. This correlation, however, has been excluded in a case-control study. This study excluded the association between the N3K polymorphism and otosclerosis in Campania region population.
authors.affiliation: Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy ; CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy.
authors.forename: Sandra
authors.initials: S
authors.lastname: Iossa
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", C.N.R., Naples, Italy ; Institute of Cybernetics "Eduardo Caianello", Naples, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Morello
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", C.N.R., Naples, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Esposito
authors.affiliation: Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
authors.forename: Virginia
authors.initials: V
authors.lastname: Corvino
authors.affiliation: Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Giannini
authors.affiliation: Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Salvato
authors.affiliation: Department of Otorhinolaryngology, University of Naples "Federico II", Naples, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Cavaliere
authors.affiliation: Department of Otorhinolaryngology, University of Naples "Federico II", Naples, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Panetti
authors.affiliation: U.O.C. Otorhinolaryngology, PO Ascalesi, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Panetti
authors.affiliation: U.O.C. Otorhinolaryngology, PO Ascalesi, Naples, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Piantedosi
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", C.N.R., Naples, Italy.
authors.forename: Fernando
authors.initials: F
authors.lastname: Gianfrancesco
authors.affiliation: Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Marciano
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy ; Institute of Genetics and Biophysics "A. Buzzati Traverso", C.N.R., Naples, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Franzè
keywords: Campania region; Case–control study; Osteoprotegerin; Rs2073618; SNP