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Indian Journal of Otolaryngology and Head & Neck Surgery

Published in:

01-09-2014 | Original Article

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Authors: Sandra Iossa, Giovanna Morello, Teresa Esposito, Virginia Corvino, Pasquale Giannini, Raffaella Salvato, Michele Cavaliere, Maria Panetti, Giuseppe Panetti, Bruno Piantedosi, Fernando Gianfrancesco, Elio Marciano, Annamaria Franzè

Published in: Indian Journal of Otolaryngology and Head & Neck Surgery | Issue 3/2014

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.

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Title: Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population
Authors: Sandra Iossa
Giovanna Morello
Teresa Esposito
Virginia Corvino
Pasquale Giannini
Raffaella Salvato
Michele Cavaliere
Maria Panetti
Giuseppe Panetti
Bruno Piantedosi
Fernando Gianfrancesco
Elio Marciano
Annamaria Franzè
Publication date: 01-09-2014
Publisher: Springer India
Published in: Indian Journal of Otolaryngology and Head & Neck Surgery / Issue 3/2014
Print ISSN: 2231-3796
Electronic ISSN: 0973-7707
DOI: https://doi.org/10.1007/s12070-014-0706-6

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Springer Medicine

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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