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

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.