The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss

Laer, Lut Van; Carlsson, Peder; Ottschytsch, Natacha; Bondeson, Marie-Louise; Konings, Annelies; Vandevelde, Ann; Dieltjens, Nele; Fransén, Erik; Snyders, Dirk J.; Borg, Erik; Raes, Adam; Camp, Guy Van

doi:10.1002/humu.20360

Cited by 109 publications

(91 citation statements)

References 57 publications

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“…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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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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“…However, previous analysis did not report SLC12A2 as NIHL susceptibility gene neither in our Polish [20] nor in the Swedish population [19]. Given the special importance of the subjects with tinnitus and normal hearing, in our opinion the results obtained for KCNE1 are particularly interesting.…”

Section: Discussionmentioning

confidence: 60%

“…Among them 33 SNPs were genotyped with AcycloPrime Fluorescence Polarization (FP) SNP Detection System (Perkin Elmer Life Sciences, Boston, MA, USA) as described before [19]. SNPs, for which no assay could be developed with the FP methods, were genotyped with the SNaPshot detection system (Applied Biosystems, Foster City, CA, USA), as described previously [24].…”

Section: Resultsmentioning

confidence: 99%

“…Ten potassium recycling pathway genes were selected as candidate tinnitus susceptibility genes, as it was described for NIHL candidate genes [19,20]. Briefly, SNPs were initially selected from the complete list of SNPs available in the NCBI database (URL: http://www.ncbi.…”

Section: Snp Selection and Genotypingmentioning

confidence: 99%

“…Among carefully selected candidate genes, those regulating potassium recycling in the inner ear seemed to be of great importance, as evidenced by the fact that mutations in K+ channel genes in the inner ear often lead to hearing loss in animals and humans [14][15][16][17][18]. Two genes (KCNE1 -potassium voltage-gated channel, Isk-related family, member 1 and KCNQ4 -potassium voltage-gated channel, KQT-like subfamily, member 4) were finally reported to be associated with NIHL in Polish and Swedish populations [19,20]. To test the hypothesis that genetic variability in genes of the potassium recycling pathway is associated with increased susceptibility to tinnitus, we have performed sound with a characteristic frequency [3].…”

Section: Introductionmentioning

confidence: 99%

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Analysis of inner ear potassium recycling genes as potential factors associated with tinnitus

Pawełczyk¹,

Rajkowska²,

Kotyło³

et al. 2012

International Journal of Occupational Medicine and Environmental Health

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Tinnitus is defined as a perception of sound in the absence of an external acoustic stimulus. Several factors are known to influence tinnitus, e.g. hearing loss, noise exposure, age, and hypertension. As only certain individuals develop tinnitus in the presence of the above risks and in approximately 50% of cases tinnitus is not attributed to any particular cause, the question arose whether this inter-individual susceptibility to tinnitus could be explained by the influence of genetic factors. Objectives: To test the hypothesis that genetic variability in genes of the potassium recycling pathway is associated with increased susceptibility to tinnitus. Materials and Methods: The study group consisted of 626 subjects exposed to occupational noise (128 with tinnitus and 498 without tinnitus). 99 single nucleotide polymorphisms were investigated in 10 genes involved in the potassium recycling pathway in the inner ear, previously selected as putative noise-induced hearing loss (NIHL) candidate genes. Results: Nominally significant associations were obtained for 2 variants in KCNE1 (potassium voltage-gated channel, Isk-related family, member 1) and SLC12A2 (solute carrier family 12, member 2) genes. The first gene contributed to tinnitus that developed independently of hearing loss, while the second one was associated with increased susceptibility to noise-induced hearing loss. Conclusions: Present findings lend support to the notion of potassium recycling pathway genes as possible risk modifiers of tinnitus in individuals with and without hearing loss. Due to the lack of replication in other independent populations these results should be seen as suggestive.

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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 contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss

Cited by 109 publications

References 57 publications

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

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

Analysis of inner ear potassium recycling genes as potential factors associated with tinnitus

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

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