Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/408
Título : Functional Variants in NOS1 and NOS2A Are Not Associated with Progressive Hearing Loss in Ménière's Disease in a European Caucasian Population
Autor : 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.
Filiación: [Gazquez,I; Lopez-Escamez,JA] Otology and Neurotology Group CTS495, GENYO, Centro de Genómica e Investigación Oncológica–Pfizer, Universidad de Granada, Junta de Andalucía, Granada, Spain. [Gazquez,I; Moreno,A; López-Nevot,MA] Department of Immunology, Hospital Virgen de las Nieves, University of Granada, Granada, Spain. [López-Escamez,JA ]Otology and Neurotology Group CTS495, Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. [Campbell,CA; Meyer,NC; Ganz,BC; Hansen,MR; Smith,RJH] Department of Otolaryngology, University of Iowa, Iowa City, Iowa. [Carey,JP; Minor,LB; Della Santina,CC] Departments of Otolaryngology—Head and Neck Surgery, Biomedical Engineering, and Neuroscience, Johns Hopkins University,Baltimore, Maryland.[Aran,I] Department of Otolaryngology, Complejo Hospitalario de Pontevedra, Pontevedra, Spain. [Soto-Varela,A; Santos,S] Division of Otoneurology, Department of Otorhinolaryngology, Hospital Clinico Universitario, Santiago de Compostela, Santiago, Spain. [Batuecas,A] Department Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain.[Perez-Garrigues,H] Division of Otoneurology, Department of Otorhinolaryngology, Hospital La Fe, Valencia, Spain. [Lopez-Nevot,A] Otology and Neurotology Group CTS495, Department of Otolaryngology, Hospital Virgen de las Nieves, University of Granada, Granada, Spain.
Palabras clave : Secuencia de Bases
Sitios de Unión
Grupo de Ascendencia Continental Europea
Frecuencia de los Genes
Variación Genética
Genotipo
Pérdida Auditiva
Humanos
Enfermedad de Meniere
Repeticiones de Microsatélite
Datos de Secuencia Molecular
Óxido Nítrico Sintasa de Tipo I
Regiones Promotoras Genéticas
Análisis de Secuencia
España
Estados Unidos
Óxido Nítrico Sintasa de Tipo I
MeSH: Medical Subject Headings::Information Science::Information Science::Information Services::Documentation::Molecular Sequence Data::Base Sequence
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Binding Sites
Medical Subject Headings::Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Sensation Disorders::Hearing Disorders::Hearing Loss::Hearing Loss, Sensorineural
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Labyrinth Diseases::Endolymphatic Hydrops::Meniere Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Tandem Repeat Sequences::Microsatellite Repeats
Medical Subject Headings::Information Science::Information Science::Information Services::Documentation::Molecular Sequence Data
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-NH2 Group Donors::Amino Acid Oxidoreductases::Nitric Oxide Synthase::Nitric Oxide Synthase Type I
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-NH2 Group Donors::Amino Acid Oxidoreductases::Nitric Oxide Synthase::Nitric Oxide Synthase Type II
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Regulatory Elements, Transcriptional::Promoter Regions, Genetic
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Medical Subject Headings::Geographicals::Geographic Locations::Americas::North America::United States
Fecha de publicación : 9-Sep-2011
Editorial : Mary Ann Liebert
Cita Bibliográfica: 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
Abstract: 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.
Descripción : 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.
URI: http://hdl.handle.net/10668/408
Versión del editor : http://online.liebertpub.com/doi/abs/10.1089/dna.2011.1259
DOI: 10.1089/dna.2011.1259.
ISSN : 1557-7430 (Online)
1044-5498 (Print)
Appears in Collections:01- Artículos - APES Hospital de Poniente
01- Artículos - Hospital Virgen de las Nieves

Files in This Item:
File Description SizeFormat 
Gazquez_FunctionalVariants.pdfArtículo principal771,45 kBAdobe PDFView/Open


Except where otherwise noted, Items on the Andalusian Health Repository site are licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives License.