Dataset Information

Association Analysis of Candidate Gene Polymorphisms and Audiometric Measures of Noise-Induced Hearing Loss in Young Musicians.

ABSTRACT: INTRODUCTION:This study aimed to investigate the association between candidate genetic variants and audiometric measures of noise-induced hearing loss (NIHL) in young musicians. METHODS:The study analyzed a database by Phillips et al. (Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. Int J Audiol 2015;54:645-52.) which included behavioral hearing thresholds, distortion-product otoacoustic emissions (DPOAE), tympanometric, and genetic data of 166 participants meeting the inclusion criteria. Nineteen single nucleotide polymorphisms (SNPs) in 13 cochlear genes previously associated with NIHL in factory workers were included in the present investigation. The average hearing threshold at 3000 and 4000?Hz (AHT) and average DPOAE signal to noise ratio (DPOAE SNR) in both ears were calculated. RESULTS:The regression analyses showed that two SNPs- one in KCNE1 (rs2070358) and the other in CAT (rs12273124) revealed a statistically significant relationship with DPOAE SNR in both ears. Two SNPs in MYH14 and one in GJB4 revealed a significant association with DPOAE SNR in the left ear. Two SNPs in HSP70, one in CDH23 and one in KCNJ10 showed significant association with DPOAE SNR in the right ear. None of the included SNPs showed association with AHT in both ears. CONCLUSIONS:A genetic variant in KCNE1 was associated with the strength of the cochlear amplifier as assessed by DPOAE SNR. Musicians carrying causal genetic variants to NIHL might exhibit changes in their auditory functions early in the lifespan even when most subjects had their hearing thresholds within normal limits. These participants are likely to show the clinical manifestation of NIHL in the future if no preventive measures are applied.

SUBMITTER: Bhatt IS

PROVIDER: S-EPMC7343220 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Association Analysis of Candidate Gene Polymorphisms and Audiometric Measures of Noise-Induced Hearing Loss in Young Musicians.

Bhatt Ishan Sunilkumar IS Dias Raquel R Washnik Nilesh N Wang Jin J Guthrie O'neil O Skelton Michael M Lane Jeffery J Wilder Jason J

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 20200601 5

<h4>Introduction</h4>This study aimed to investigate the association between candidate genetic variants and audiometric measures of noise-induced hearing loss (NIHL) in young musicians.<h4>Methods</h4>The study analyzed a database by Phillips et al. (Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. Int J Audiol 2015;54:645-52.) which included behavioral hearing thresholds, distortion-product otoacoustic emissions (DPOAE), tympanometric, and genetic d ...[more]

PMID: 32176153

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Project description:IntroductionSubjective tinnitus, a perception of phantom sound, is a common otological condition that affects almost 15% of the general population. It is known that noise-induced hearing loss (NIHL) and tinnitus exhibit a high level of comorbidity in individuals exposed to intense noise and music. However, the influence of genetic variants associated with NIHL on tinnitus remains elusive. We hypothesized that young musicians carrying genetic variants associated with NIHL would exhibit a higher prevalence of tinnitus than their counterparts.MethodsTo test this hypothesis, we analyzed the database by Bhatt et al. (2020) (originally developed by Phillips et al., 2015) that investigated the genetic links to NIHL in young college-aged musicians. The present study identified 186 participants (average age = 20.3 yrs, range = 18-25 yrs) with normal tympanometry and otoscopic findings and with no missing data. We included 19 single nucleotide polymorphisms in 13 cochlear genes that were previously associated with NIHL. The candidate genes include: KCNE1, KCNQ1, CDH23, GJB2, GJB4, KCNJ10, CAT, HSP70, PCDH70, MYH14, GRM7, PON2, and ESRRB.ResultsWe find that individuals with at least one minor allele of rs163171 (C > T) in KCNQ1 exhibit significantly higher odds of reporting tinnitus compared to individuals carrying the major allele of rs163171. KCNE1 rs2070358 revealed a suggestive association (p = 0.049) with tinnitus, but the FDR corrected p-value did not achieve statistical significance (p < 0.05). A history of ear infection and sound level tolerance showed a statistically significant association with tinnitus. Music exposure showed a suggestive association trend with tinnitus. Biological sex revealed a statistically significant association with distortion product otoacoustic emissions SNR measures.ConclusionsWe concluded that KCNQ1/KCNE1 voltage-gated potassium ion channel plays a critical role in the pathogenesis of NIHL and tinnitus. Further research is required to construct clinical tools for identifying genetically predisposed individuals well before they acquire NIHL and tinnitus.

Project description:BackgroundNoise-induced hearing loss (NIHL) is a complex disease induced by a combination of genetic and environmental factors. Paraoxonase2 (PON2) gene involved in the regulation of reactive oxygen species, and affecting the vulnerability of cochlea to NIHL, and ATPase, calcium-transporting, plasma membrane 2 (ATP2B2) gene which encodes plasma membrane calcium-transporting ATPase isoform 2 (PMCA2) are the candidate genes relating to the attack of NIHL. In this study, we investigated whether ATP2B2 and PON2 polymorphisms were associated with NIHL in Chinese of Han nationality population.MethodsWe performed a case-control study between six single nucleotide polymorphisms (SNPs) (rs1719571, rs3209637 and rs4327369 within ATP2B2, rs12026, rs7785846 and rs12704796 within PON2) and NIHL in 454 subjects. All the SNPs were genotypes, using the TaqMan MGB probe assay. Odds ratios (ORs) were calculated with 95% confidence intervals (95% CIs) with logistic regression analysis to test the level of association for SNPs.ResultsIn our study, 221 subjects with hearing loss and 233 subjects without hearing loss were recruited. The frequencies of the CG and CG + GG genotype of rs12026 (PON2) conferred risk factors for NIHL with adjusted OR values of 2.62 (95% CI, 1.69-4.06) and 2.48 (95% CI, 1.63-3.78), respectively. This kind of significance was also found at locus rs7785846, where genotypes CT and CT + TT were the risk types, with adjusted ORs of 2.52 (95% CI, 1.62-3.93) and 2.35 (95% CI, 1.54-3.58), respectively. We performed stratified analysis per noise exposure level, when it came to rs7785846 and rs12026 in the >92 dB(A) noise exposure group, the subjects who carried heterozygote were of significantly (P<0.01) higher susceptibility to NIHL than homozygote carriers. By contrast, no significantly higher risk was found for any rs12704796 genotypes or any genotypes in ATP2B2 (P>0.05), which may suggest that these SNPs did not have significant effects on noise susceptibility across noise exposure.ConclusionsOur research suggested that PON2 might play a role in the etiology of NIHL in Chinese of Han nationality population.

Project description:Presbyacusis, or age-related hearing loss, can be characterized in humans as metabolic and sensory phenotypes, based on patterns of audiometric thresholds that were established in animal models. The metabolic phenotype is thought to result from deterioration of the cochlear lateral wall and reduced endocochlear potential that decreases cochlear amplification and produces a mild, flat hearing loss at lower frequencies coupled with a gradually sloping hearing loss at higher frequencies. The sensory phenotype, resulting from environmental exposures such as excessive noise or ototoxic drugs, involves damage to sensory and non-sensory cells and loss of the cochlear amplifier, which produces a 50-70 dB threshold shift at higher frequencies. The mixed metabolic + sensory phenotype exhibits a mix of lower frequency, sloping hearing loss similar to the metabolic phenotype, and steep, higher frequency hearing loss similar to the sensory phenotype. The current study examined audiograms collected longitudinally from 343 adults 50-93 years old (n = 686 ears) to test the hypothesis that metabolic phenotypes increase with increasing age, in contrast with the sensory phenotype. A Quadratic Discriminant Analysis (QDA) was used to classify audiograms from each of these ears as (1) Older-Normal, (2) Metabolic, (3) Sensory, or (4) Metabolic + Sensory phenotypes. Although hearing loss increased systematically with increasing age, audiometric phenotypes remained stable for the majority of ears (61.5 %) over an average of 5.5 years. Most of the participants with stable phenotypes demonstrated matching phenotypes for the left and right ears. Audiograms were collected over an average period of 8.2 years for ears with changing audiometric phenotypes, and the majority of those ears transitioned to a Metabolic or Metabolic + Sensory phenotype. These results are consistent with the conclusion that the likelihood of metabolic presbyacusis increases with increasing age in middle to older adulthood.

Project description:BACKGROUND:Recent studies have evaluated the associations between polymorphisms of the heat-shock protein 70 (HSP70) encoding genes and noise-induced hearing loss (NIHL). However, the conclusions of these studies are conflicting. The objective of this meta-analysis was to clarify the association between all known polymorphisms of HSP70 genetic loci and susceptibility to NIHL, based on existing reports. METHODS:We conducted a meta-analysis of the association between Hsp70 polymorphisms (rs1043618, rs1061581, rs2075800, rs2227956, and rs2763979) and NIHL risk in both Chinese and Caucasian males. All statistical analysis was done with was conducted using the "meta" package (version 4.6-0) of R version 3.3.2 and RStudio version 1.0.44. Online databases were searched for eligible case-control studies on February 13, 2017. The odds ratio (OR), 95% confidence interval (CI), and P value were calculated using Mantel-Haenszel statistics under a random- or fixed-effect model. RESULTS:A total of five studies, reported via four articles from online databases, were included in our meta-analysis. For rs1061581 (from three studies), a significant association was detected in the allele model, homozygote model, and dominant model (G versus A: OR (95% CI) = 1.32(1.05-1.67), GG versus AA: OR (95% CI) = 1.93(1.1-3.36), GG + AG versus AA: OR (95% CI) = 1.45(1.05-2.02)), but not in the heterozygote model or the recessive model. For rs1043618 (from five studies), rs2075800 (from two studies), rs2227956 (from four studies), rs2763979 (from two studies), no significant association was found for any genetic model. After subgroup analyses by ethnicity, significant associations were observed for the allele model, heterozygote model, and dominant model for rs1061581 and any genetic model for rs2227956 in Caucasians. CONCLUSIONS:The rs1043618, rs2075800, and rs2763979 polymorphisms were not found to be associated with susceptibility to NIHL; however, the rs1061581 and rs2227956 polymorphisms were significantly associated with NIHL in Caucasian males.

Dataset Information

Association Analysis of Candidate Gene Polymorphisms and Audiometric Measures of Noise-Induced Hearing Loss in Young Musicians.

Publications

Association Analysis of Candidate Gene Polymorphisms and Audiometric Measures of Noise-Induced Hearing Loss in Young Musicians.

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