Susan L Phillips1, Scott J Richter2, Sandra L Teglas3, Ishan S Bhatt4, Robin C Morehouse5, Elizabeth R Hauser6, Vincent C Henrich7. 1. a * Communication Sciences & Disorders, University of North Carolina at Greensboro , USA. 2. b Math & Statistics, University of North Carolina at Greensboro , USA. 3. c Music Research Institute, University of North Carolina at Greensboro , USA. 4. d Communication Sciences & Disorders, Northern Arizona University , Flagstaff , USA. 5. e Communication Sciences & Disorders, Appalachian State University , Boone USA. 6. f Epidemiology, Duke University , Durham , United States. 7. g Center for Biotechnology, Genomics & Health Research, University of North Carolina at Greensboro , USA.
Abstract
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.
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.
Entities:
Keywords:
Hearing conservation; medical audiology; noise; syndromes/genetics
Authors: Hua Tang; Tom Quertermous; Beatriz Rodriguez; Sharon L R Kardia; Xiaofeng Zhu; Andrew Brown; James S Pankow; Michael A Province; Steven C Hunt; Eric Boerwinkle; Nicholas J Schork; Neil J Risch Journal: Am J Hum Genet Date: 2004-12-29 Impact factor: 11.025
Authors: Gregory A Flamme; Mark R Stephenson; Kristy K Deiters; Amanda Hessenauer; Devon K VanGessel; Kyle Geda; Krista Wyllys; Kara D McGregor Journal: Int J Audiol Date: 2014-03 Impact factor: 2.117
Authors: Elizabeth R Hauser; Vincent Mooser; David C Crossman; Jonathan L Haines; Christopher H Jones; Bernhard R Winkelmann; Silke Schmidt; William K Scott; Allen D Roses; Margaret A Pericak-Vance; Christopher B Granger; William E Kraus Journal: Am Heart J Date: 2003-04 Impact factor: 4.749
Authors: Lut Van Laer; Per-Inge Carlsson; Natacha Ottschytsch; Marie-Louise Bondeson; Annelies Konings; Ann Vandevelde; Nele Dieltjens; Erik Fransen; Dirk Snyders; Erik Borg; Adam Raes; Guy Van Camp Journal: Hum Mutat Date: 2006-08 Impact factor: 4.878