RT Journal Article
T1 Functional Variants in NOS1 and NOS2A Are Not Associated with Progressive Hearing Loss in Ménière's Disease in a European Caucasian Population
A1 Gazquez, Irene
A1 Lopez-Escamez, Jose A.
A1 Moreno, Antonia
A1 Campbell, Colleen A.
A1 Meyer, Nicole C.
A1 Carey, John P.
A1 Minor, Lloyd B.
A1 Gantz, Bruce J.
A1 Hansen, Marlan R.
A1 Della Santina, Charles C.
A1 Aran, Ismael
A1 Soto-Varela, Andres
A1 Santos, Sofia
A1 Batuecas, Angel
A1 Perez-Garrigues, Herminio
A1 Lopez-Nevot, Alicia
A1 Smith, Richard J.H.
A1 Lopez-Nevot, Miguel A.
K1 Secuencia de Bases
K1 Sitios de Unión
K1 Grupo de Ascendencia Continental Europea
K1 Frecuencia de los Genes
K1 Variación Genética
K1 Genotipo
K1 Pérdida Auditiva
K1 Humanos
K1 Enfermedad de Meniere
K1 Repeticiones de Microsatélite
K1 Datos de Secuencia Molecular
K1 Óxido Nítrico Sintasa de Tipo I
K1 Regiones Promotoras Genéticas
K1 Análisis de Secuencia
K1 España
K1 Estados Unidos
K1 Óxido Nítrico Sintasa de Tipo I
AB Hearing loss in Meniere'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, wed 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 and NOS2A do not confer susceptibility for MD.
PB Mary Ann Liebert
SN 1044-5498
YR 2011
FD 2011-09-09
LK http://hdl.handle.net/10668/408
UL http://hdl.handle.net/10668/408
LA en
NO Gazquez I, Lopez-Escamez JA, Moreno A, Campbell CA, Meyer NC,  Carey JP, et al. Functional Variants in NOS1 and NOS2A Are Not Associated with Progressive Hearing Loss in Ménière's Disease in a European Caucasian Population. DNA Cell Biol. 2011 Sep;30(9):699-708
NO This is a copy of an article published in the DNA and Cell Biology © 2011 [copyright Mary Ann Liebert, Inc.]; DNA and Cell Biology is available online at: http://online.liebertpub.com.
DS RISalud
RD Apr 19, 2025