Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.

Gazquez, Irene; Lopez-Escamez, Jose A; Moreno, Antonia; Campbell, Colleen A; Meyer, Nicole C; Carey, John P; Minor, Lloyd B; Gantz, Bruce J; Hansen, Marlan R; Della Santina, Charles C; Aran, Ismael; Soto-Varela, Andres; Santos, Sofia; Batuecas, Angel; Perez-Garrigues, Herminio; Lopez-Nevot, Alicia; Smith, Richard J H; Lopez-Nevot, Miguel A

Gazquez, Irene; Lopez-Escamez, Jose A; Moreno, Antonia; Campbell, Colleen A; Meyer, Nicole C; Carey, John P; Minor, Lloyd B; Gantz, Bruce J; Hansen, Marlan R; Della Santina, Charles C; Aran, Ismael; Soto-Varela, Andres; Santos, Sofia; Batuecas, Angel; Perez-Garrigues, Herminio; Lopez-Nevot, Alicia; Smith, Richard J H; Lopez-Nevot, Miguel A.

Afiliación

Gazquez I; Otology and Neurotology Group CTS495, GENYO, Centro de Genómica e Investigación Oncológica-Pfizer, Universidad de Granada, Junta de Andalucía, Granada, Spain.

DNA Cell Biol ; 30(9): 699-708, 2011 Sep.

Article en En | MEDLINE | ID: mdl-21612410

RESUMEN

Hearing loss in Ménière's disease (MD) is associated with loss of spiral ganglion neurons and hair cells. In a guinea pig model of endolymphatic hydrops, nitric oxide synthases (NOS) and oxidative stress mediate loss of spiral ganglion neurons. To test the hypothesis that functional variants of NOS1 and NOS2A are associated with MD, we genotyped three functional variants of NOS1 (rs41279104, rs2682826, and a cytosine-adenosine microsatellite repeat in exon 1f) and the CCTTT repeat in the promoter of NOS2A gene (rs3833912) in two independent MD sets (273 patients in total) and 550 controls. A third cohort of American patients was genotyped as replication cohort for the CCTTT repeat. Neither allele nor genotype frequencies of rs41279104 and rs2682826 were associated with MD, although longer alleles of the cytosine-adenosine microsatellite repeat were marginally significant (corrected p = 0.05) in the Mediterranean cohort but not in a second Galicia cohort. Shorter numbers of the CCTTT repeat in NOS2A were significantly more frequent in Galicia controls (OR = 0.37 [CI, 0.18-0.76], corrected p = 0.04), but this finding could not be replicated in Mediterranean or American case-control populations. Meta-analysis did not support an association between CCTTT repeats and risk for MD. Severe hearing loss (>75 dB) was also not associated with any functional variants studied. Functional variants of NOS1 and NOS2A do not confer susceptibility for MD.

Asunto(s)

Variación Genética; Pérdida Auditiva Sensorineural/genética; Enfermedad de Meniere/genética; Óxido Nítrico Sintasa de Tipo II/genética; Óxido Nítrico Sintasa de Tipo I/genética; Población Blanca/genética; Secuencia de Bases; Sitios de Unión/genética; Frecuencia de los Genes; Genotipo; Pérdida Auditiva Sensorineural/patología; Humanos; Enfermedad de Meniere/patología; Repeticiones de Microsatélite/genética; Datos de Secuencia Molecular; Regiones Promotoras Genéticas/genética; Análisis de Secuencia de ADN; España; Estados Unidos

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Población Blanca / Óxido Nítrico Sintasa de Tipo I / Óxido Nítrico Sintasa de Tipo II / Pérdida Auditiva Sensorineural / Enfermedad de Meniere Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: America do norte / Europa Idioma: En Revista: DNA Cell Biol Asunto de la revista: BIOLOGIA MOLECULAR Año: 2011 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos

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