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Genetic Inheritance and Its Contribution to Tinnitus

  • Sana Amanat
  • Alvaro Gallego-Martinez
  • Jose A. Lopez-EscamezEmail author
Chapter
Part of the Current Topics in Behavioral Neurosciences book series

Abstract

Tinnitus is the abnormal perception of sound that affects more than 15% of adult population around the globe. Severe tinnitus is considered a complex disorder that arises as result of the interaction of genetic and environmental factors, and it is associated with several comorbidities such as hearing loss, anxiety, and insomnia. We begin this review with an introduction to human molecular genetics and the role of genetic variation on the inheritance. There are some genetic reports on tinnitus heritability including concordance studies in twins and adoptees or aggregation in families providing some evidence for familial aggregation in patients with severe tinnitus and high concordance in monozygotic twins with bilateral tinnitus. So, sex differences in familial aggregation and heritability of bilateral tinnitus suggest a potential sexual dimorphism in tinnitus inheritance.

Molecular genetic studies have been demonstrated to be a useful tool to understand the role of genetic variation in rare diseases and complex disorders. The reported associations in common variants in neurotrophic factors such as GDNF, BDNF, or potassium channels genes were underpowered, and the lack of replication questions these findings. Although candidate gene approaches have failed in replicating these genetic associations, the development of high throughput sequencing technology and the selection of extreme phenotypes are strategies that will allow the clinicians and researchers to combine genetic information with clinical data to implement a personalized diagnosis and therapy in patients with tinnitus.

Keywords

Extreme phenotype Genetics Heritability Rare variants Tinnitus 

Abbreviations

A

Adenine

C

Cytosine

DNA

Deoxyribonucleic acid

G

Guanine

GWAS

Genome-wide association study

INDEL

Insertion-deletion

PCR

Polymerase chain reaction

RNA

Ribonucleic acid

SNV

Single-nucleotide variant

T

Thymine

WES

Whole-exome sequencing

WGS

Whole-genome sequencing

Notes

Acknowledgments

This project is a part of European School for Interdisciplinary Tinnitus (ESIT) research, and Sana Amanat is a PhD student in the Biomedicine Program at the University of Granada. This study has been funded by H2020 MSC-ITN-2017–722046 Grant. The project leading to these results has received funding by H2020 ERA-NET Cofund GENDER-NET Plus (GNP-182 Grant) from “la Caixa” Foundation (ID 100010434), under agreement LCF/PR/DE18/52010002.

Conflict of Interest

The authors declare no conflict of interest.

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Sana Amanat
    • 1
  • Alvaro Gallego-Martinez
    • 1
  • Jose A. Lopez-Escamez
    • 1
    • 2
    • 3
    Email author
  1. 1.Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO – Centre for Genomics and Oncological Research – PfizerUniversity of Granada, Junta de Andalucía, PTSGranadaSpain
  2. 2.Department of OtolaryngologyInstituto de Investigación Biosanitaria ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de GranadaGranadaSpain
  3. 3.Division of Otolaryngology, Department of SurgeryUniversidad de GranadaGranadaSpain

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