RT Journal Article
T1 Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease.
A1 Cabrera, Sonia
A1 Sanchez, Elena
A1 Requena, Teresa
A1 Martinez-Bueno, Manuel
A1 Benitez, Jesus
A1 Perez, Nicolas
A1 Trinidad, Gabriel
A1 Soto-Varela, Andrés
A1 Santos-Perez, Sofía
A1 Martin-Sanz, Eduardo
A1 Fraile, Jesus
A1 Perez, Paz
A1 Alarcon-Riquelme, Marta E
A1 Batuecas, Angel
A1 Espinosa-Sanchez, Juan M
A1 Aran, Ismael
A1 Lopez-Escamez, Jose A
K1 Enfermedad de Meniere
K1 Desequilibrio de Ligamiento
K1 Polimorfismo de Nucleótido Simple
K1 FN-kappa B
K1 Mediana Edad
K1 Humanos
K1 Femenino
K1 Masculino
K1 Estimación de Kaplan-Meier
K1 Intrones
K1 Pérdida Auditiva
K1 Haplotipos
K1 Predisposición Genética a la Enfermedad
K1 Progresión de la Enfermedad
K1 Alelos
AB 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.
PB Plos One
YR 2014
FD 2014-11-14
LK http://hdl.handle.net/10668/2060
UL http://hdl.handle.net/10668/2060
LA en
NO 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
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 7, 2025