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Approved Research

Identifying the genetic basis of audiometric phenotypes

Principal Investigator: Dr Ishan Bhatt
Approved Research ID: 68779
Approval date: December 8th 2021

Lay summary

Audiometric phenotypes such as hearing loss, listening difficulties, and tinnitus are known to be influenced by a complex interaction between genetic and environmental factors. Adults with permanent hearing loss and tinnitus achieve lower levels of education, have higher rates of falls and frailty, hospitalization, unemployment, death, and higher rates of dementia, depression, and cognitive decline leading to poor quality of life. Aging and noise are the most common risk factors for hearing loss, tinnitus, and listening difficulties. These audiological phenotypes are typically permanent and can have a debilitating effect on an individual's quality of life. The environmental factors of audiometric phenotypes are investigated well in the literature. However, the genetic basis of common audiometric phenotypes (e.g., hearing loss, tinnitus, listening difficulties) still remains elusive. 

Our specific objectives are as follows -

  1. To quantify the influence of genetic and non-genetic risk factors on common audiometric phenotypes (e.g., listening difficulties, hearing loss, and tinnitus) using the UK biobank data.
  2. To construct polygenic risk scores for common audiometric phenotypes and integrate them with non-genetic risk factors for personalized risk assessment using the UK biobank data.

Significance: The successful completion of the project will allow us to construct a comprehensive risk profile for common audiometric phenotypes. It will help us create clinically useful tools to identify individuals at risk for acquiring hearing loss, tinnitus, listening difficulties (and other audiological problems) before they are exposed to environmental risk factors. The novel mechanistic insight in the pathogenesis will be critical for developing precision medicine.