Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis

Susan L. Phillips; Scott J. Richter; Sandra L. Teglas; Ishan S. Bhatt; Robin C. Morehouse; Elizabeth R. Hauser; Vincent C. Henrich

doi:10.3109/14992027.2015.1030512

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Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis

Journal article

Peer reviewed

Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis

Susan L. Phillips, Scott J. Richter, Sandra L. Teglas, Ishan S. Bhatt, Robin C. Morehouse, Elizabeth R. Hauser and Vincent C. Henrich

International journal of audiology, Vol.54(10), pp.645-652

10/03/2015

DOI: 10.3109/14992027.2015.1030512

PMCID: PMC4785866

PMID: 25938503

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http://libres.uncg.edu/ir/uncg/f/S_Phillips_Feasibility_2015.pdfView

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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.

Hearing conservation

medical audiology

noise

syndromes/genetics

Details

Title: Subtitle: Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis
Creators: Susan L. Phillips - University of North Carolina at Greensboro
Scott J. Richter - University of North Carolina at Greensboro
Sandra L. Teglas - University of North Carolina at Greensboro
Ishan S. Bhatt - Northern Arizona University
Robin C. Morehouse - Appalachian State University
Elizabeth R. Hauser - Duke University
Vincent C. Henrich - University of North Carolina at Greensboro
Resource Type: Journal article
Publication Details: International journal of audiology, Vol.54(10), pp.645-652
DOI: 10.3109/14992027.2015.1030512
PMID: 25938503
PMCID: PMC4785866
NLM abbreviation: Int J Audiol
ISSN: 1499-2027
eISSN: 1708-8186
Publisher: Taylor & Francis
Language: English
Date published: 10/03/2015
Academic Unit: Communication Sciences and Disorders
Record Identifier: 9984258738402771

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