Feasibility of a bilateral 4000–6000 Hz notch as a phenotype for genetic association analysis
| Autor: | Vincent C. Henrich, Susan L. Phillips, Scott J. Richter, Robin C. Morehouse, Ishan Sunilkumar Bhatt, Sandra L. Teglas, Elizabeth R. Hauser |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Linguistics and Language medicine.medical_specialty Adolescent Hearing loss Population Pilot Projects Single-nucleotide polymorphism Audiology Polymorphism Single Nucleotide Article Language and Linguistics Young Adult Speech and Hearing Audiometry Gene Frequency Hearing Predictive Value of Tests Risk Factors otorhinolaryngologic diseases Genetic predisposition Humans Medicine Genetic Predisposition to Disease education Allele frequency Genetic Association Studies Genetic association education.field_of_study medicine.diagnostic_test business.industry Auditory Threshold Minor allele frequency Phenotype Acoustic Stimulation Hearing Loss Noise-Induced Case-Control Studies Feasibility Studies Female medicine.symptom Noise business |
| Zdroj: | International Journal of Audiology. 54:645-652 |
| ISSN: | 1708-8186 1499-2027 |
| Popis: | Objective: Noise-induced hearing loss (NIHL) is a worldwide health problem and a growing concern among young people. Although some people appear to be more susceptible to NIHL, genetic association studies lack a specific phenotype. We tested the feasibility of a bilateral 4000–6000 Hz audiometric notch as a phenotype for identifying genetic contributions to hearing loss in young adults. Design: A case-control-control study was conducted to examine selected SNPs in 52 genes previously associated with hearing loss and/or expressed in the cochlea. A notch was defined as a minimum of a 15-dB drop at 4000–6000 Hz from the previous best threshold with a 5-dB ‘recovery’ at 8000 Hz. Study sample: Participants were 252 individuals of European descent taken from a population of 640 young adults who are students of classical music. Participants were grouped as No-notch (NN), Unilateral Notch (UN), or Bilateral Notch (BN). Results: The strongest evidence of a genetic association with the 4000–6000 Hz notch was a nonsynonymous SNP variant in the ESRR– gene (rs61742642:C> T, P386S). Carriers of the minor allele accounted for 26% of all bilateral losses. Conclusion: This study indicates that the 4000–6000 Hz bilateral notch is a feasible phenotype for identifying genetic susceptibility to hearing loss. |
| Databáze: | OpenAIRE |
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