Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/2060
Título : Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease.
Autor : Cabrera, Sonia
Sanchez, Elena
Requena, Teresa
Martinez-Bueno, Manuel
Benitez, Jesus
Perez, Nicolas
Trinidad, Gabriel
Soto-Varela, Andrés
Santos-Perez, Sofía
Martin-Sanz, Eduardo
Fraile, Jesus
Perez, Paz
Alarcon-Riquelme, Marta E
Batuecas, Angel
Espinosa-Sanchez, Juan M
Aran, Ismael
Lopez-Escamez, Jose A
Filiación: [Cabrera,S; Requena,T; Espinosa-Sanchez,JM; Lopez-Escamez,JA] Otology and Neurotology Group, Department of Genomic Medicine-Centro de Genómica e Investigación Oncológica-Pfizar/Universidad de Granada/Junta de Andalucía (Genyo). [Sanchez,E] Department of Neurology, Icahn School of Medicine at Mount Sinai. [Martinez-Bueno,M; Alarcon-Riquelme,ME] Group of Genetics of Complex Diseases, Department of Genomic Medicine-Centro de Genómica e Investigación Oncológica-Pfizer/Universidad de Granada/Junta de Andalucía (GENYO). [Benitez,J] Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr. Negrin. [Perez,N] Department of Otolaryngology, Clínica Universidad de Navarra. [Trinidad,G] Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario de Badajoz. [Soto-Varela,A; Santos-Perez,S] Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela. [Martin-Sanz,E] Department of Otolaryngology, Hospital Universitario de Getafe. [Fraile,J] Department of Otolaryngology, Hospital Miguel Servet. [Perez,P] Department of Otorhinolaryngology, Hospital Cabueñes. [Batuecas,A] Department of Otolaryngology, Hospital Universitario Salamanca. [Espinosa-Sanchez,JM] Department of Otorhinolaryngology, Hospital San Agustin. [Aran,I] Department of Otolaryngology, Complexo Hospital de Pontevedra. [Lopez-Escamez,JA] Department of Otoloaryngology, Hospital de Poniente.
Palabras clave : Enfermedad de Meniere
Desequilibrio de Ligamiento
Polimorfismo de Nucleótido Simple
FN-kappa B
Mediana Edad
Humanos
Femenino
Masculino
Estimación de Kaplan-Meier
Intrones
Pérdida Auditiva
Haplotipos
Predisposición Genética a la Enfermedad
Progresión de la Enfermedad
Alelos
MeSH: Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Sensation Disorders::Hearing Disorders::Hearing Loss
Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Hearing Loss::Hearing Loss, Sensorineural
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::Introns
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Survival Analysis::Kaplan-Meier Estimate
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Labyrinth Diseases::Endolymphatic Hydrops::Meniere Disease
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::DNA-Binding Proteins::NF-kappa B::NF-kappa B p50 Subunit
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Fecha de publicación : 14-Nov-2014
Editorial : Plos One
Cita Bibliográfica: Cabrera S, Sanchez E, Requena T, Martinez-Bueno M, Benitez J, Perez N, et al. Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease. PLoS ONE 2014 ; 9(11):e112171
Abstract: Meniere's disease is an episodic vestibular syndrome associated with sensorineural hearing loss (SNHL) and tinnitus. Patients with MD have an elevated prevalence of several autoimmune diseases (rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and psoriasis), which suggests a shared autoimmune background. Functional variants of several genes involved in the NF-κB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more immune-mediated diseases and allelic variations in the TLR10 gene may influence bilateral affectation and clinical course in MD. We have genotyped 716 cases of MD and 1628 controls by using the ImmunoChip, a high-density genotyping array containing 186 autoimmune loci, to explore the association of immune system related-loci with sporadic MD. Although no single nucleotide polymorphism (SNP) reached a genome-wide significant association (p<10(-8)), we selected allelic variants in the NF-kB pathway for further analyses to evaluate the impact of these SNPs in the clinical outcome of MD in our cohort. None of the selected SNPs increased susceptibility for MD in patients with uni or bilateral SNHL. However, two potential regulatory variants in the NFKB1 gene (rs3774937 and rs4648011) were associated with a faster hearing loss progression in patients with unilateral SNHL. So, individuals with unilateral MD carrying the C allele in rs3774937 or G allele in rs4648011 had a shorter mean time to reach hearing stage 3 (>40 dB HL) (log-rank test, corrected p values were p = 0.009 for rs3774937 and p = 0.003 for rs4648011, respectively). No variants influenced hearing in bilateral MD. Our data support that the allelic variants rs3774937 and rs4648011 can modify hearing outcome in patients with MD and unilateral SNHL.
Descripción : Journal Article; Research Support, Non-U.S. Gov't;
URI: http://hdl.handle.net/10668/2060
Versión del editor : http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112171
DOI: 10.1371/journal.pone.0112171
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - APES Hospital de Poniente

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