Contribution of genetic factors to noise-induced hearing loss: A human studies review

Mutation Research - Reviews in Mutation Research

Volumn 752, Issue 1, 2013, Pages 61-65

  Sliwinska Kowalska, Mariola ^a,b   Pawelczyk, Malgorzata ^a  

^a NOFER INSTITUTE OF OCCUPATIONAL MEDICINE   (Poland)

^b UNIVERSITY OF LODZ   (Poland)

Author keywords

Association studies; Heat shock proteins; Monogenic deafness; Noise induced hearing loss; Oxidative stress; Potassium recycling

Indexed keywords

ALLELE; CAT GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GJB1 GENE; GJB2 GENE; GJB4 GENE; GSTM1 GENE; HEREDITY; HSP70 GENE; HUMAN; KCNE1 GENE; KCNJ10 GENE; KCNQ1 GENE; KCNQ4 GENE; MYH14 GENE; NOISE; NOISE INJURY; OXIDATIVE STRESS; PCDH15 GENE; PON2 GENE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOD2 GENE;

HEARING LOSS, NOISE-INDUCED; HSP70 HEAT-SHOCK PROTEINS; HUMANS; OXIDATIVE STRESS; POTASSIUM;

EID: 84872673846     PISSN: 13835742     EISSN: 13882139     Source Type: Journal    
DOI: 10.1016/j.mrrev.2012.11.001     Document Type: Review

References (40)

1. Alberti P. Noise-induced hearing loss-a global problem. Advances in Noise Research, vol. 1, Protection Against Noise, London: I. 1998, 7-15. Whurr Publisher Ltd., London. D. Prasher, L. Luxon (Eds.).
2. Li H.S. Influence of genotype and age on acute acoustic trauma and recovery in CBA/Ca and C57BL/6J mice. Acta Otolaryngol. 1992, 112:956-967.
3. Erway L.C., Shiau Y.W., Davis R.R., et al. Genetics of age-related hearing loss in mice. III. Susceptibility of inbred and F1 hybrid strains to noise-induced hearing loss. Hear. Res. 1996, 93:181-187.
4. Davis R.R., Newlander J.K., Ling X., et al. Genetic basis for susceptibility to noise-induced hearing loss in mice. Hear. Res. 2001, 155:82-90.
5. Ohlemiller K.K., McFadden S.L., Ding D.L., et al. Targeted deletion of the cytosolic Cu/Zn-superoxide dismutase gene (Sod1) increases susceptibility to noise-induced hearing loss. Audiol. Neurootol. 1999, 4:237-246.
6. Ohlemiller K.K., McFadden S.L., Ding D.L., et al. Targeted mutation of the gene for cellular glutathione peroxidase (Gpx1) increases noise-induced hearing loss in mice. J. Assoc. Res. Otolaryngol. 2000, 1:243-254.
7. Kozel P.J., Davis R.R., Krieg E.F., et al. Deficiency in plasma membrane calcium ATPase isoform 2 increases susceptibility to noise-induced hearing loss in mice. Hear. Res. 2002, 164:231-239.
8. Holme R.H., Steel K.P. Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. J. Assoc. Res. Otolaryngol. 2004, 5:66-79.
9. Rabinowitz P.M., Pierce Wise J., Hur Mobo B., et al. Antioxidant status and hearing function in noise-exposed workers. Hear. Res. 2002, 173:164-171.
10. Fortunato G., Marciano E., Zarrilli F., et al. Paraoxonase and superoxide dismutase gene polymorphisms and noise-induced hearing loss. Clin. Chem. 2004, 50:2012-2018.
11. Carlsson P.I., van Laer L., Borg E., et al. The influence of genetic variation in oxidative stress genes on human noise susceptibility. Hear. Res. 2005, 202:87-96.
12. Carlsson P.I., Fransen E., Stenberg E., Bondeson M.L. The influence of genetic factors, smoking and cardiovascular diseases on human noise susceptibility. Audiol. Med. 2007, 5(2):82-91.
13. Konings A., Van Laer L., Pawelczyk M., Carlsson P.I., Bondeson M.L., et al. Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations. Hum. Mol. Genet. 2007, 16:1872-1883.
14. Liu Y.M., Li X.D., Guo X., et al. SOD2 V16A SNP in the mitochondrial targeting sequence is associated with noise induced hearing loss in Chinese workers. Dis. Markers 2010, 28:137-147.
15. Lin C.Y., Wu J.L., Shih T.S., et al. Glutathione S-transferase M1 T1, and P1 polymorphisms as susceptibility factors for noise-induced temporary threshold shift. Hear. Res. 2009, 257:8-15.
16. Palodetto B., Postal M., Grignoli C.R., et al. Influence of glutathione s-transferase on the ototoxicity caused by aminoglycosides. Hear. Res. 2010, 269:42-47.
17. Wangemann P. K+ cycling and the endocochlear potential. Hear. Res. 2002, 165:1-9.
18. Neyroud N., Tesson F., Denjoy I., Leibovici M., et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 1997, 15:186-189.
19. Tyson J., Tranebjaerg L., Bellman S., Wren C., Taylor J.F., Bathen J., Aslaksen B., Sorland S.J., Lund O., Malcolm S., Pembrey M., Bhattacharya S., Bitner-Glindzicz M. IsK KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum. Mol. Genet. 1997, 6:2179-2185.
20. Coucke P.J., Van Hauwe P., Kelley P.M., Kunst H., Schatteman J., Van Velzen D., Meyers J., Ensink R.J., Verstreken M., Declau F., Marres H., Kastury K., Bhasin S., McGuirt W.T., Smith R.J., Cremers C.W., Van de Heyning P., Willems P.J., Smith S.D., Van Camp G. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum. Mol. Genet. 1999, 8:1321-1328.
21. Kubisch C., Schroeder B.C., Friedrich T., Lutjohann B., El-Amraoui A., Marlin S., Petit C., Jentsch T.J. KCNQ4 a novel potassium channel expressed in sensory outer hair cells is mutated in dominant deafness. Cell 1999, 96:437-446.
22. Delpire E., Lu J., England R., Dull C., Thorne T. Deafness imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. Nat. Genet. 1999, 22:192-195.
23. Dixon M.J., Gazzard J., Chaudhry S.S., Sampson N., Schulte B.A., Steel K.P. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum. Mol. Genet. 1999, 8:1579-1584.
24. Flagella M., Clarke L.L., Miller M.L., Erway L.C., Gianella R.A., Andringa A., Gawenis L.R., Kramer J., Duffy J.J., Doetschman T., Lorenz J.N., Yamoah E.N., Cardell E.L., Shull G.E. Mice lacking the basolateral Na-K-Cl cotransporter have impaired epithelial chloride secretion and are profoundly deaf. J. Biol. Chem. 1999, 274:26946-26955.
25. Marcus D.C., Wu T., Wangemann P., Kofuji P. KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am. J. Physiol. Cell Physiol. 2002, 282:C403-C407.
26. Carlsson P.I., Borg E., Grip L., Dahl N., Bondeson M.L. Variability in noise susceptibility in a Swedish population: the role of 35delG mutation in the Connexin26 (GJB2) gene. Audiol. Med. 2004, 2:123-130.
27. Van Eyken E., Van Laer L., Fransen E., Topsakal V., Hendrickx J.J., Demeester K., Van de Heyning P., Maki-Torkko E., Hannula S., Sorri M., et al. The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. Otol. Neurotol. 2007, 28:970-975.
28. Van Laer L., Carlsson P.I., Ottschytsch N., et al. The contribution of genes involved in potassium recycling in the inner ear to noise-induced hearing loss. Hum. Mutat. 2006, 27:786-795.
29. Pawelczyk M., van Laer L., Fransen E., et al. Analysis of gene polymorphisms associated with K+ ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. Ann. Hum. Genet. 2009, 73:411-421.
30. Konings A.A., van Laer L., Wiktorek-Smagur A., Rajkowska E., Pawelczyk M., et al. Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations. Ann. Hum. Genet. 2009, 73:215-224.
31. Sakaguchi H., Tokita J., Müller U., et al. Tip links in hair cells: molecular composition and role in hearing loss. Curr. Opin. Otolaryngol. Head Neck Surg. 2009, 17:388-393.
32. Noben-Trauth K., Zheng Q.Y., Johnson K.R. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat. Genet. 2003, 35:21-23.
33. Lim H.H., Jenkins O.H., Myers M.W., Miller J.M., Altschuler R.A. Detection of HSP72 synthesis after acoustic overstimulation in rat cochlea. Hear. Res. 1993, 69:146-150.
34. Yoshida N., Kristianses A., Liberman M.C. Heat stress and protection from permanent acoustic injury in mice. J. Neurosci. 1999, 19(22):10116-10124.
35. Wang X.W., Wang X.J., Song J.S., Chen H.X., Man Y.H. Influence of evoked HSP70 expression on hearing function of the cochlea in guinea pigs. Acad. J. First Med. Coll. PLA 2002, 22:922-924.
36. Altschuler R.A., Fairfield D., Cho Y., Leonova E., Benjamin I.J., Miller J.M., Lomax M.I. Stress pathways in the rat cochlea and potential for protection from acquired deafness. Audiol. Neurootol. 2002, 7:152-156.
37. Yang M., Tan H., Yang Q., Wang F., Yao H., Wei Q., Tanguay R.M., Wu T. Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers. Cell Stress Chaperone. 2006, 11:233-239.
38. Konings A., Van Laer L., Michel S., Pawelczyk M., Carlsson P.I., Bondeson M.L., Rajkowska E., Dudarewicz A., Vandevelde A., Fransen E., Huyghe J., Borg E., Sliwinska-Kowalska M., Van Camp G. Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations. Eur. J. Hum. Genet. 2009, 17:329-335.
39. Storey J.D., Tibshirani R. Statistical significance for genomewide studies. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:9440-9445.
40. Neale B.M., Sham P.C. The future association studies: gene-based analysis and replication. Am. J. Hum. Genet. 2004, 75:353-362.