The search of a genetic basis for noise-induced hearing loss (NIHL)

Abreu-Silva, Ronaldo Serafim; Rincon, Daniel; Horimoto, Andréa Roseli Vançan Russo; Sguillar, Ary Papa; Ricardo, Luiz Artur Costa; Kimura, Lilian; Batissoco, Ana Carla; Auricchio, Maria Teresa Balester de Mello; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia

doi:10.3109/03014460.2010.513774

Cited by 36 publications

(25 citation statements)

References 52 publications

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“…It consisted of 306 Brazilian unaffected individuals of various ethnic backgrounds: 133 subjects were predominantly of European ancestry, 165 were of predominantly African ancestry, and 8 were of Asian ancestry. Part of the control sample is described in Abreu-Silva et al (2010). The Brazilian population is highly admixed and subjects, with either European or African ancestry, may present high frequencies of Native American lineages of mitochondrial DNA (Bortolini et al, 1997;Alves-Silva et al, 2000;Marrero et al, 2005).…”

Section: Subjectsmentioning

confidence: 97%

Role of the Mitochondrial Mutations, m.827A>G and the Novel m.7462C>T, in the Origin of Hearing Loss

Uehara

Rincon²,

Abreu-Silva³

et al. 2010

Genetic Testing and Molecular Biomarkers

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Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m.1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m.827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m.7472insC mutation and three probands presented a novel variant, m.7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation.

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Section: Subjectsmentioning

confidence: 97%

Role of the Mitochondrial Mutations, m.827A>G and the Novel m.7462C>T, in the Origin of Hearing Loss

Uehara

Rincon²,

Abreu-Silva³

et al. 2010

Genetic Testing and Molecular Biomarkers

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“…These include a variety of metabolic enzymes and heat shock proteins tied to redox regulation (Yang, et al, 2006; Konings, et al 2007; Lin, et al, 2010; Liu, et al, 2010a, b; Abreu-Silva, et al, 2011), ion channels and ion transport proteins, and structural and gap junction proteins (Van Laer, et al, 2006; Konings, et al, 2007; Slwinska-Kowalska, et al, 2008; Pawelczyk, et al, 2009). , These findings have been replicated for catalase (CAT) the heat shock protein HSP70, potassium ion channels (KCNQ4, KCNE1), myosin 14 (MYO14) and protocadherin 15 (PCDH15).…”

Section: Introductionmentioning

confidence: 99%

“…When participants were categorized as those with audiograms suggestive of NIHL (loss at 4000,6000, and/or 8000 Hz), those with other forms of hearing loss, and those with no loss, associations of the NIHL group with glutathione S-transferase mu 1(GSTM1), glutathione S-transferase theta 1(GSTT1) and mitochondrial haplotype 1 were observed (Abreu-Silva, et al, 2011). Examination of industrial workers, sorted by the amount of temporary threshold shift they exhibited after a day of work, revealed associations with GSTM1, GSTT1 and glutathione S-transferase pi (GSTP; Lin et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

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

Phillips

Richter

Teglas

et al. 2015

International Journal of Audiology

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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.

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“…ere are greater than 10 million workers employed in high-noise environments in China, of which at least 10% have different levels of hearing loss. Although environmental factors play a vital part in the development of NIHL, population epidemiologic studies have shown that, with the exception of the influence of other confounding factors, hereditary factors account for up to 50% of the variability in hearing loss after noise exposure [2,3].…”

Section: Introductionmentioning

confidence: 99%

Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

Wang

Guo

et al. 2020

Biochemistry Research International

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Objectives. e purpose of this study was to investigate the correlation between single-nucleotide polymorphism (SNP) in 3′UTR of XPO5 gene and the occurrence of noise-induced hearing loss (NIHL), and to further explore the regulatory mechanism of miRNAs in NIHL on XPO5 gene. Methods.We conducted a case-control study involving 1040 cases and 1060 controls. e effects of SNPs on XPO5 expression were studied by genotyping, real-time polymerase chain reaction (qPCR), cell transfection, and the dual-luciferase reporter assay. Results.We genotyped four SNPs (rs2257082, rs11077, rs7755135, and rs1106841) in the XPO5 gene. e rs2257082 AG/GG carriers have special connection to an increased risk of noise-induced hearing loss compared to the AA carriers. e rs11077TG/GG carriers had a significantly increased association with NIHL susceptibility than the TT carriers. ere was a higher risk of NIHL in the XPO5 gene rs7755135 CC carriers than in the TT carriers. No statistically significant correlation was obtained with respect to SNPrs1106841. Functional experiments showed that the rs11077 change might inhibit the interaction between miRNAs (miRNA-4763-5p, miRNA-5002-3p, and miRNA-617) and XPO5, with rs11077G allele resulting in overexpression of XPO5. Conclusion. e genetic polymorphism, rs11077, within XPO5 is associated with the risk of noise-induced hearing loss in a Chinese population.

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The search of a genetic basis for noise-induced hearing loss (NIHL)

Abstract: The findings suggest effects of familial history of hearing loss, of GSTT1 and GSTM1 enzymes and of mitochondrial haplogroup L1 on the risk of NIHL. This study also described novel sequence variants of MTRNR1 and MTTS1 genes.

Cited by 36 publications

References 52 publications

Role of the Mitochondrial Mutations, m.827A>G and the Novel m.7462C>T, in the Origin of Hearing Loss

Role of the Mitochondrial Mutations, m.827A>G and the Novel m.7462C>T, in the Origin of Hearing Loss

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

Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

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