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Title: | Functional Variants in NOS1 and NOS2A Are Not Associated with Progressive Hearing Loss in Ménière's Disease in a European Caucasian Population |
Authors: | 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. |
metadata.dc.contributor.authoraffiliation: | [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. |
Keywords: | 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 |
metadata.dc.subject.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 |
Issue Date: | 9-Sep-2011 |
Publisher: | Mary Ann Liebert |
Citation: | 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. |
Description: | 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 |
metadata.dc.relation.publisherversion: | http://online.liebertpub.com/doi/abs/10.1089/dna.2011.1259 |
metadata.dc.identifier.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 | Size | Format | |
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Gazquez_FunctionalVariants.pdf | Artículo principal | 771,45 kB | Adobe PDF | View/Open |
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