# From genomic discovery to application in age-related hearing loss: a global bibliometric and cross-ethnic analysis

**Authors:** Yang Lu, Jiawei Shen, Ka Ho Kairos Sou, Hsi Lu, Shuoyuan Huang, Kai Uus

PMC · DOI: 10.3389/fnagi.2025.1678115 · Frontiers in Aging Neuroscience · 2025-11-03

## TL;DR

This study maps global research trends and genetic factors in age-related hearing loss, emphasizing the need for diverse population studies and international collaboration.

## Contribution

The study provides a systematic bibliometric and cross-ethnic analysis of ARHL genetics, identifying key genes and highlighting research gaps in non-European populations.

## Key findings

- Publications on ARHL genetics have grown at an average annual rate of 6.83% over 30 years.
- 56 genes showed cross-ethnic consistency, with CDH23, ILDR1, and SLC26A5 being highly consistent.
- Research focus has shifted from inner ear anatomy to molecular mechanisms like oxidative stress and inflammation.

## Abstract

Age-related hearing loss (ARHL) is a common chronic condition that significantly affects the quality of life in older adults. Studies have shown that genetic factors play a substantial role in ARHL, with heritability estimates ranging from 46 to 74%. Although advances in genomics and epigenetics have led to the identification of numerous candidate genes in recent years, most related studies have focused on European and North American populations. There remains a lack of systematic mapping of research trends and cross-ethnic gene consistency, limiting the broad applicability of these findings.

This study screened English-language publications on ARHL genetics from 1995 to June 2025 across PubMed, Embase, Web of Science, and Scopus, ultimately including 465 studies. Bibliometric analyses were conducted using R Bibliometrix, VOSviewer, and CiteSpace to extract research trends, research hotspots, and candidate genes. Ethnic information from human studies were compiled to facilitate cross-ethnic comparative analysis.

Over the past 30 years, publications in this field have shown continuous growth, with an average annual growth rate of 6.83%. Hearing Research emerged as the core journal. China and the United States were the top two publishing countries, though international collaboration remained limited. Research priorities have gradually shifted from inner ear anatomy to molecular mechanisms such as gene variants, oxidative stress, mitochondrial function, and inflammation. A total of 365 candidate factors from animal studies and 221 candidate genes from human studies were extracted and grouped into seven categories. Cross-ethnic analysis identified 56 genes that were repeatedly reported across at least two populations. Among these, CDH23, ILDR1, and SLC26A5 showed high cross-ethnic consistency, while genes such as GRHL2 exhibited notable ethnic specificity.

This study systematically maps the developmental trajectory and research hotspots of ARHL genetics, revealing key patterns in geographic distribution, thematic evolution, and cross-ethnic applicability. The findings highlight the urgent need to strengthen research in non-European populations and promote international collaboration, thereby providing a theoretical foundation and data support for building a universally applicable genetic risk framework and advancing individualised interventions.

## Linked entities

- **Genes:** CDH23 (cadherin related 23) [NCBI Gene 64072], ILDR1 (immunoglobulin like domain containing receptor 1) [NCBI Gene 286676], SLC26A5 (solute carrier family 26 member 5) [NCBI Gene 375611], GRHL2 (grainyhead like transcription factor 2) [NCBI Gene 79977]

## Full-text entities

- **Genes:** CDH23 (cadherin related 23) [NCBI Gene 64072] {aka CDHR23, PITA5, USH1D}, SLC26A5 (solute carrier family 26 member 5) [NCBI Gene 375611] {aka DFNB61, PRES}, GRHL2 (grainyhead like transcription factor 2) [NCBI Gene 79977] {aka BOM, DFNA28, ECTDS, PPCD4, TFCP2L3}, ILDR1 (immunoglobulin like domain containing receptor 1) [NCBI Gene 286676] {aka DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta}
- **Diseases:** inflammation (MESH:D007249), ARHL (MESH:D010024)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12620367/full.md

## References

119 references — full list in the complete paper: https://tomesphere.com/paper/PMC12620367/full.md

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Source: https://tomesphere.com/paper/PMC12620367