The influence of genetic variation in oxidative stress genes on human noise susceptibility

Carlsson, Peder; Laer, Lut Van; Borg, Erik; Bondeson, Marie-Louise; Thys, Melissa; Fransén, Erik; Camp, Guy Van

doi:10.1016/j.heares.2004.09.005

Cited by 81 publications

(85 citation statements)

References 35 publications

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“…13 Much of the literature about age-related hearing loss has focused on environmental factors such as noise exposure. 9,57,58 More recently, however, several susceptibility loci for age-related hearing loss have been identified. Genes implicated in this process using linkage and genome-wide association studies include genes previously implicated in other forms of hearing loss (such as KCNQ4 and ACTG1), and genes involved in oxidative stress (such as GRM7, GRHL2, mitochondrial oxidative genes, and N-acetyltransferase).…”

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

“…Genes implicated in this process using linkage and genome-wide association studies include genes previously implicated in other forms of hearing loss (such as KCNQ4 and ACTG1), and genes involved in oxidative stress (such as GRM7, GRHL2, mitochondrial oxidative genes, and N-acetyltransferase). 9,10,[12][13][14]20 Certain environmental (nongenetic) factors play a major etiologic role in hearing loss. 59 In the United States, congenital CMV infection is the most common nongenetic cause of hearing loss among children.…”

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

“…However, it is evident that a significant proportion of adult-onset hearing loss is likely to be caused, or strongly influenced, by genetic factors. [9][10][11][12][13][14] The goal of a genetics evaluation for deaf and hard-of-hearing individuals of any age is to identify an etiologic diagnosis and, in doing so, enable implementation of an individualized health-maintenance strategy. [15][16][17] Identification of a previously unrecognized syndromic form of hearing loss can be particularly important because it may allow early management of associated medical concerns.…”

Section: Introductionmentioning

confidence: 99%

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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

206

134

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DEFINITIONSDeaf: a community with a distinct culture and language shaped by the experience of being deaf or hard of hearing, which may include deaf, hard-of-hearing, and hearing individuals deaf: an auditory phenotype characterized by a total or neartotal loss of the ability to hear hard of hearing: an auditory phenotype characterized by a partial loss of the ability to hear hearing loss: an auditory phenotype characterized by any degree of loss of the ability to hear; depending on cause, hearing loss can be temporary or permanent-this guideline focuses on permanent hearing loss Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

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Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

206

134

View full text Add to dashboard Cite

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“…21,33 In brief, 1261 male noise exposed workers from the mid-western part of Sweden were collected. They were divided into nine categories (three age-ranges, below 35, 35 -50 and above 50 years, and three occupational noise exposure categories, r85 dBA, 86 -91 dBA and Z92 dBA, all leq, 8 h, 5 days a week).…”

Section: Subjectsmentioning

confidence: 99%

“…However, hitherto a specific causative variant was either not yet identified (CAT) 20 or has not yet been replicated in an independent population (KCNE1 and GSTM1). 18,21 Heat-shock proteins (HSPs) are a group of conserved proteins expressed ubiquitously in cells under both physiological and pathological circumstances. Under physiological conditions, HSPs function as molecular chaperones and assist in synthesis, folding, assembly and intracellular transport of many proteins.…”

Section: Introductionmentioning

confidence: 99%

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

et al. 2008

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Noise-induced hearing loss (NIHL) is one of the most important occupational health hazards. Millions of people worldwide are exposed daily to harmful levels of noise. NIHL is a complex disease resulting from an interaction between genetic and environmental factors. Although the environmental risk factors have been studied extensively, little is known about the genetic factors. Heat-shock proteins (HSPs) are induced after exposure to severe noise. When first induced by exposure to moderate sound levels, they can protect the ear from damage from excessive noise exposure. This protection is highly variable between individuals. An association of HSP70 genes with NIHL has been described by Yang et al (2006) in a Chinese sample set of noise-exposed workers. In this study, three polymorphisms (rs1043618, rs1061581 and rs2227956) in HSP70-1, HSP70-2 and HSP70-hom, respectively, were genotyped in 206 Swedish and 238 Polish DNA samples of noise-exposed subjects and analyzed. One SNP, rs2227956 in HSP70-hom, resulted in a significant association with NIHL in both sample sets. In addition, rs1043618 and rs1061581 were significant in the Swedish sample set. Analysis of the haplotypes composed of the three SNPs revealed significant associations between NIHL and haplotype GAC in both sample sets and with haplotype CGT in the Swedish sample set. In conclusion, this study replicated the association of HSP70 genes with NIHL in a second and third independent noise-exposed sample set, hereby adding to the evidence that HSP70 genes may be NIHL susceptibility genes.

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Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise

Śliwińska-Kowalska

Noben-Trauth

Pawełczyk

et al. 2008

American J Hum Biol

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Single nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome and may underlie differential susceptibility to common genetic diseases. A candidate gene for susceptibility to noise-induced hearing loss (NIHL) is Cadherin 23 (CDH23). This study aimed to analyze genetic variation in the CDH23 gene in a group of 10 individuals derived from a cohort of 949 workers exposed to noise, and consisted of five persons from each of the resistant and susceptible extremes. DNA samples were collected and the coding exons of CDH23 were sequenced. We identified a total of 35 SNPs: 11 amino acid substitutions, 8 silent nucleotide changes, and 16 substitutions in intervening sequences. Ten of the 11 amino acid substitutions were previously shown also to segregate in a Cuban population. The nonsynonymous SNPs localized to the part of the gene encoding the extracellular domain of Cadherin 23, in particular ectodomains 5, 13, 14, 15, 16, 17, 19, and 22. One amino acid change occurred at a conserved position in ectodomain 5. Our results provide a framework for future study of polymorphisms in CDH23 as risk factor for NIHL.

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The influence of genetic variation in oxidative stress genes on human noise susceptibility

Cited by 81 publications

References 35 publications

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise

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