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Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank

A Correction to this article was published on 12 March 2021

This article has been updated


Age-related hearing impairment (ARHI) is very common in older adults and has major impact on quality of life. The heritability of ARHI has been estimated to be around 50%. The present study aimed to estimate heritability and environmental contributions to liability of ARHI and the extent to which a polygenic risk score (PRS) derived from a recent genome-wide association study of questionnaire items regarding hearing loss using the UK Biobank is predictive of hearing loss in other samples. We examined (1) a sample from TwinsUK who have had hearing ability measured by pure-tone audiogram and the speech-to-noise ratio test as well as questionnaire measures that are comparable with the UK Biobank questionnaire items and (2) European and non-European samples from the UK Biobank which were not part of the original GWAS. Results indicated that the questionnaire items were over 50% heritable in TwinsUK and comparable with the objective hearing measures. In addition, we found very high genetic correlation (0.30–0.84) between the questionnaire responses and objective hearing measures in the TwinsUK sample. Finally, PRS computed from weighted UK Biobank GWAS results were predictive of both questionnaire and objective measures of hearing loss in the TwinsUK sample, as well as questionnaire-measured hearing loss in Europeans but not non-European subpopulations. These results demonstrate the utility of questionnaire-based methods in genetic association studies of hearing loss in adults and highlight the differences in genetic predisposition to ARHI by ethnic background.

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Fig. 1: Hearing aid (HAID) polygenic risk score (PRS) from UK Biobank British genome-wide association study used to predict HAID in TwinsUK.
Fig. 2: Odds ratios for ten evenly spaced quantiles of polygenic risk score (PRS) for the optimal p value threshold, for hearing aid (HAID) from UK Biobank British genome-wide association study used to predict HAID in TwinsUK.
Fig. 3: Hearing difficulties (HD) polygenic risk score (PRS) from UK Biobank British genome-wide association study used to predict HD in TwinsUK.
Fig. 4: Odds ratios for ten evenly spaced quantiles of polygenic risk score (PRS) for the optimal p value threshold, for hearing difficulties (HD) from UK Biobank British genome-wide association study used to predict HD in TwinsUK.

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This work used data from UK Biobank (project 11516) was supported by a grant from Med_el. The TwinsUK study was funded by the Wellcome Trust and European Community’s Seventh Framework Programme (FP7/2007-2013). HRRW is funded by a PhD Studentship Grant, S44, from Action on Hearing Loss. The study also receives support from the National Institute for Health Research (NIHR) Clinical Research Facility at Guy’s & St Thomas’ NHS Foundation Trust and NIHR Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London.

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Correspondence to Frances M. K. Williams.

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Cherny, S.S., Livshits, G., Wells, H.R.R. et al. Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank. Eur J Hum Genet 28, 1056–1065 (2020).

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