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Comparison of GWAS results between de novo tinnitus and cancer treatment-related tinnitus suggests distinctive roles for genetic risk factors

Comparison of GWAS results between de novo tinnitus and cancer treatment-related tinnitus suggests distinctive roles for genetic risk factors
  • Jarach, C. M. et al. Global prevalence and incidence of tinnitus: A systematic review and meta-analysis. JAMA Neurol. 79, 888–900 (2022).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Shargorodsky, J., Curhan, G. C. & Farwell, W. R. Prevalence and characteristics of tinnitus among US adults. Am. J. Med. 123, 711–718 (2010).

    Article 
    PubMed 

    Google Scholar 

  • Weidt, S. et al. Which tinnitus-related characteristics affect current health-related quality of life and depression? A cross-sectional cohort study. Psychiatry Res. 237, 114–121 (2016).

    Article 
    PubMed 

    Google Scholar 

  • Lugo, A. et al. Sex-specific association of tinnitus with suicide attempts. JAMA Otolaryngol. Head Neck Surg. 145, 685–687 (2019).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Cederroth, C. R. et al. Editorial: Towards an understanding of tinnitus heterogeneity. Front. Aging Neurosci. 11, 53 (2019).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Simoes, J. P. et al. Multidisciplinary tinnitus research: Challenges and future directions from the perspective of early stage researchers. Front. Aging Neurosci. 13, 647285 (2021).

    Article 
    ADS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Baguley, D., McFerran, D. & Hall, D. Tinnitus. Lancet 382, 1600–1607 (2013).

    Article 
    PubMed 

    Google Scholar 

  • Bokemeyer, C. et al. Analysis of risk factors for cisplatin-induced ototoxicity in patients with testicular cancer. Br. J. Cancer 77, 1355–1362 (1998).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Lau, S. K., Wei, W. I., Sham, J. S., Choy, D. T. & Hui, Y. Early changes of auditory brain stem evoked response after radiotherapy for nasopharyngeal carcinoma–A prospective study. J. Laryngol. Otol. 106, 887–892 (1992).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Whelan, K. et al. Auditory complications in childhood cancer survivors: A report from the childhood cancer survivor study. Pediatr. Blood Cancer 57, 126–134 (2011).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Vanneste, S. & De Ridder, D. Deafferentation-based pathophysiological differences in phantom sound: Tinnitus with and without hearing loss. Neuroimage 129, 80–94 (2016).

    Article 
    PubMed 

    Google Scholar 

  • Schmidt, S. A., Carpenter-Thompson, J. & Husain, F. T. Connectivity of precuneus to the default mode and dorsal attention networks: A possible invariant marker of long-term tinnitus. Neuroimage Clin. 16, 196–204 (2017).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Gilles, A., Van Camp, G., Van de Heyning, P. & Fransen, E. A pilot genome-wide association study identifies potential metabolic pathways involved in tinnitus. Front. Neurosci. 11, 71 (2017).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Wells, H. R. R., Abidin, F. N. Z., Freidin, M. B., Williams, F. M. K. & Dawson, S. J. Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank. Sci. Rep. 11, 6470 (2021).

    Article 
    ADS 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Clifford, R. E., Maihofer, A. X., Stein, M. B., Ryan, A. F. & Nievergelt, C. M. Novel risk loci in tinnitus and causal inference with neuropsychiatric disorders among adults of European Ancestry. JAMA Otolaryngol. Head Neck Surg. 146, 1015–1025 (2020).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Bhatt, I. S., Wilson, N., Dias, R. & Torkamani, A. A genome-wide association study of tinnitus reveals shared genetic links to neuropsychiatric disorders. Sci. Rep. 12, 22511 (2022).

    Article 
    ADS 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Smit, D. J. A. et al. A genome-wide association study of a rage-related misophonia symptom and the genetic link with audiological traits, psychiatric disorders, and personality. Front. Neurosci. 16, 971752 (2022).

    Article 
    PubMed 

    Google Scholar 

  • El Charif, O. et al. Clinical and genome-wide analysis of cisplatin-induced tinnitus implicates novel ototoxic mechanisms. Clin. Cancer Res. 25, 4104–4116 (2019).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Zhang, X. et al. Pharmacogenomics of cisplatin-induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy. Cancer Med. 11, 2801–2816 (2022).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Trendowski, M. R. et al. Clinical and genetic risk factors for radiation-associated ototoxicity: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. Cancer 127, 4091–4102 (2021).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Sudlow, C. et al. UK biobank: An open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. (2015).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature (2018).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Oldenburg, J., Fosså, S. D. & Dahl, A. A. Scale for chemotherapy-induced long-term neurotoxicity (SCIN): Psychometrics, validation, and findings in a large sample of testicular cancer survivors. Qual. Life Res. 15, 791–800 (2006).

    Article 
    PubMed 

    Google Scholar 

  • Chang, C. C. et al. Second-generation PLINK: Rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • McLaren, W. et al. The ensembl variant effect predictor. Genome Biol. 17, 122 (2016).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Cunningham, F. et al. Ensembl 2022. Nucleic Acids Res. 50, D988–D995 (2022).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Sollis, E. et al. The NHGRI-EBI GWAS catalog: Knowledgebase and deposition resource. Nucleic Acids Res. 51, D977–D985 (2023).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Purcell, S. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. (2014).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Panjwani, N. et al. LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS. PLoS Comput. Biol. (2020).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Clifford, R. E. et al. Genetic architecture distinguishes tinnitus from hearing loss. Nat. Commun. (2024).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Bulik-Sullivan, B. K. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291–295 (2015).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Wickham, H. Ggplot2: Elegant Graphics for Data Analysis (Springer-Verlag, 2016).

    Book 

    Google Scholar 

  • Wells, H. R. R. et al. GWAS identifies 44 independent associated genomic loci for self-reported adult hearing difficulty in UK biobank. Am. J. Hum. Genet. 105, 788–802 (2019).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Piccirillo, J. F., Rodebaugh, T. L. & Lenze, E. J. Tinnitus. JAMA 323, 1497–1498 (2020).

    Article 
    PubMed 

    Google Scholar 

  • Alqudah, S. et al. Methionine sulfoxide reductase A knockout mice show progressive hearing loss and sensitivity to acoustic trauma. Audiol. Neurootol. 23, 20–31 (2018).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Inoue, A. et al. The transcript for a novel protein with a zinc finger motif is expressed at specific stages of mouse spermatogenesis. Biochem. Biophys. Res. Commun. 273, 398–403 (2000).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Pisciottano, F. et al. Inner ear genes underwent positive selection and adaptation in the mammalian lineage. Mol. Biol. Evol. 36, 1653–1670 (2019).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Trpchevska, N. et al. Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss. Am. J. Hum. Genet. 109, 1077–1091 (2022).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Li, Y. et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 80, 423–430 (1995).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Richards, A. J. et al. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J. Med. Genet. 50, 765–771 (2013).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Booth, K. T. et al. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet. Med. 21, 948–954 (2019).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Rad, A. et al. Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Hum. Mutat. 42, 25–30 (2021).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Yoshioka, H. et al. Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1). Dev. Dyn. 204, 41–47 (1995).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Shi, M. et al. Acute noise causes down-regulation of ECM protein expression in guinea pig cochlea. Mol. Biotechnol. 65, 774–785 (2023).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Liu, L.-M. et al. Characterization of the transcriptomes of Atoh1-induced hair cells in the mouse cochlea. Am. J. Stem Cells 9, 1–15 (2020).

    MathSciNet 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Johnson, S. T., Chu, Y., Liu, J. & Corey, D. R. Impact of scaffolding protein TNRC6 paralogs on gene expression and splicing. RNA 27, 1004–1016 (2021).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Honda, K. et al. Molecular architecture underlying fluid absorption by the developing inner ear. Elife (2017).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Fuentes, P., Cánovas, J., Berndt, F. A., Noctor, S. C. & Kukuljan, M. CoREST/LSD1 control the development of pyramidal cortical neurons. Cereb. Cortex 22, 1431–1441 (2012).

    Article 
    PubMed 

    Google Scholar 

  • Monaghan, C. E. et al. REST corepressors RCOR1 and RCOR2 and the repressor INSM1 regulate the proliferation-differentiation balance in the developing brain. Proc. Natl. Acad. Sci. U. S. A. 114, E406–E415 (2017).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Yao, H. et al. Corepressor Rcor1 is essential for murine erythropoiesis. Blood 123, 3175–3184 (2014).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Sáez, J. E. et al. Decreased expression of CoREST1 and CoREST2 together with LSD1 and HDAC1/2 during neuronal differentiation. PLoS One 10, e0131760 (2015).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Upadhyay, G., Chowdhury, A. H., Vaidyanathan, B., Kim, D. & Saleque, S. Antagonistic actions of Rcor proteins regulate LSD1 activity and cellular differentiation. Proc. Natl. Acad. Sci. U. S. A. 111, 8071–8076 (2014).

    Article 
    ADS 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Wallis, D. et al. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development 130, 221–232 (2003).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Patel, D., Shimomura, A., Majumdar, S., Holley, M. C. & Hashino, E. The histone demethylase LSD1 regulates inner ear progenitor differentiation through interactions with Pax2 and the NuRD repressor complex. PLoS One 13, e0191689 (2018).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Christianson, J. C. et al. Defining human ERAD networks through an integrative mapping strategy. Nat. Cell Biol. 14, 93–105 (2011).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Wan, L. et al. Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: A cross-sectional study. Environ. Sci. Pollut. Res. Int. 29, 32947–32958 (2022).

    Article 
    PubMed 

    Google Scholar 

  • Perraud, A.-L. et al. NUDT9, a member of the Nudix hydrolase family, is an evolutionarily conserved mitochondrial ADP-ribose pyrophosphatase. J. Biol. Chem. 278, 1794–1801 (2003).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Atila, N. E. et al. The role of manganese, cadmium, chromium and selenium on subjective tinnitus. Biol. Trace Elem Res. 199, 2844–2850 (2021).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Neri, S. et al. Oxidative stress, nitric oxide, endothelial dysfunction and tinnitus. Free Radic. Res. 40, 615–618 (2006).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Neri, S. et al. Tinnitus and oxidative stress in a selected series of elderly patients. Arch. Gerontol. Geriatr. Suppl. 8, 219–223 (2002).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Perraud, A.-L. et al. Accumulation of free ADP-ribose from mitochondria mediates oxidative stress-induced gating of TRPM2 cation channels. J. Biol. Chem. 280, 6138–6148 (2005).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Yoon, B., Yang, E. G. & Kim, S. Y. The ADP-ribose reactive NUDIX hydrolase isoforms can modulate HIF-1α in cancer cells. Biochem. Biophys. Res. Commun. 504, 321–327 (2018).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Landegren, N. et al. Transglutaminase 4 as a prostate autoantigen in male subfertility. Sci. Transl. Med. 7, 292ra101 (2015).

    Article 
    PubMed 

    Google Scholar 

  • Funke, L., Dakoji, S. & Bredt, D. S. Membrane-associated guanylate kinases regulate adhesion and plasticity at cell junctions. Annu. Rev. Biochem. 74, 219–245 (2005).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Baumgartner, M., Weiss, A., Fritzius, T., Heinrich, J. & Moelling, K. The PDZ protein MPP2 interacts with c-Src in epithelial cells. Exp. Cell Res. 315, 2888–2898 (2009).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Rademacher, N., Schmerl, B., Lardong, J. A., Wahl, M. C. & Shoichet, S. A. MPP2 is a postsynaptic MAGUK scaffold protein that links SynCAM1 cell adhesion molecules to core components of the postsynaptic density. Sci. Rep. 6, 35283 (2016).

    Article 
    ADS 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Liu, X. et al. A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing. Cell Mol. Immunol. 20, 1379–1392 (2023).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Yang, P. et al. Development and evaluation of diagnostic criteria for Vogt-Koyanagi-Harada disease. JAMA Ophthalmol. 136, 1025–1031 (2018).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Zamani, M. R., Aslani, S., Salmaninejad, A., Javan, M. R. & Rezaei, N. PD-1/PD-L and autoimmunity: A growing relationship. Cell Immunol. 310, 27–41 (2016).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Ralli, M. et al. Audiovestibular symptoms in systemic autoimmune diseases. J. Immunol. Res. 2018, 5798103 (2018).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Rosner, S. et al. Immune-mediated ototoxicity associated with immune checkpoint inhibitors in patients with melanoma. J. Immunother. Cancer (2020).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Zibelman, M., Pollak, N. & Olszanski, A. J. Autoimmune inner ear disease in a melanoma patient treated with pembrolizumab. J. Immunother. Cancer 4, 8 (2016).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Tampio, A. J. F., Dhanireddy, S., Sivapiragasam, A. & Nicholas, B. D. Bilateral sensorineural hearing loss associated with nivolumab therapy for stage IV malignant melanoma. Ear Nose Throat J. 100, 286S-291S (2021).

    Article 
    PubMed 

    Google Scholar 

  • Rajapakse, A., O’Leary, C., Gundelach, R., Deva, R. & O’Byrne, K. Unilateral autoimmune inner ear disease in a patient with lung cancer treated with nivolumab. Oxf. Med. Case Rep. 2020, omaa077 (2020).

    Article 

    Google Scholar 

  • Hobelmann, K. & Fitzgerald, D. A case of pembrolizumab induced autoimmune sensorineural hearing loss. J. Otol. Rhinol. 8, (2019).

  • Szepesy, J. et al. Anti-PD-1 therapy does not influence hearing ability in the most sensitive frequency range, but mitigates outer hair cell loss in the Basal Cochlear region. Int. J. Mol. Sci. (2020).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Sham, C. W. et al. Neuronal programmed cell death-1 ligand expression regulates retinal ganglion cell number in neonatal and adult mice. J. Neuroophthalmol. 32, 227–237 (2012).

    Article 
    PubMed 

    Google Scholar 

  • Kong, F. et al. PD-L1 improves motor function and alleviates neuropathic pain in male mice after spinal cord injury by inhibiting MAPK pathway. Front. Immunol. 12, 670646 (2021).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Han, R., Luo, J., Shi, Y., Yao, Y. & Hao, J. PD-L1 (Programmed Death Ligand 1) protects against experimental intracerebral hemorrhage-induced brain injury. Stroke 48, 2255–2262 (2017).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Meerschaert, K. A. et al. Neuronally expressed PDL1, not PD1, suppresses acute nociception. Brain Behav. Immun. 106, 233–246 (2022).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Aguet, F. et al. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science (1979) 369, (2020).

  • Genitsaridi, E., Hoare, D. J., Kypraios, T. & Hall, D. A. A review and a framework of variables for defining and characterizing tinnitus subphenotypes. Brain Sci. (2020).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Mohan, A., Leong, S. L., De Ridder, D. & Vanneste, S. Symptom dimensions to address heterogeneity in tinnitus. Neurosci. Biobehav. Rev. 134, 104542 (2022).

    Article 
    PubMed 

    Google Scholar 

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