Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts
This study took advantage of three Italian cohorts, deeply characterized from a genetic and audiological point of view. Bioinformatics and biostatistics analyses allowed the identification of three novel candidate genes, namely, <i>SLC1A6, ASTN2,</i> and <i>ARF4-AS1</i>. Functional studies and replication in larger and independent cohorts will be essential to confirm the biological role of these genes in regulating hearing function; however, these results confirm GWAS and TWAS as powerful methods for novel gene discovery, thus paving the way for a deeper understanding of the entangled genetic landscape underlying the auditory system.
Authors
- Stefania Lenarduzzi (ORCID: https://orcid.org/0000-0001-8450-1694)
- Wouter H. van der Valk (ORCID: https://orcid.org/0000-0001-5661-7796)
- Mariarosaria Persichillo (ORCID: https://orcid.org/0000-0002-9731-0173)
- Simona Costanzo (ORCID: https://orcid.org/0000-0003-4569-1186)
- Paola Tesolin (ORCID: https://orcid.org/0000-0002-5238-6422)
- Giorgia Girotto (ORCID: https://orcid.org/0000-0003-4507-6589)
- Heiko Locher (ORCID: https://orcid.org/0000-0002-4174-0270)
- Licia Iacoviello (ORCID: https://orcid.org/0000-0003-0514-5885)
- Alessandro Pecori (ORCID: https://orcid.org/0000-0001-5926-5757)
- Marta Roccio (ORCID: https://orcid.org/0000-0001-7568-9429)
- Giuseppe Giovanni Nardone (ORCID: https://orcid.org/0000-0003-1883-8939)
- Aurora Santin (ORCID: https://orcid.org/0000-0002-8940-5463)
- Beatrice Spedicati (ORCID: https://orcid.org/0000-0002-7432-4708)
- Francis Rousset (ORCID: https://orcid.org/0000-0001-7747-179X)
- Anna Morgan (ORCID: https://orcid.org/0000-0001-6290-445X)
- Francesca Bracone
- Maria Pina Concas (ORCID: https://orcid.org/0000-0003-3598-2537)
- Alessandro Gialluisi (ORCID: https://orcid.org/0000-0002-7388-4463)
- Giulia Pianigiani
- Amalia De Curtis (ORCID: https://orcid.org/0000-0001-5104-0318)
Institutions
- University of Geneva (CH)
- Libera Università Maria SS. Assunta (IT)
- University of Trieste (IT)
- University of Zurich (CH)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- Leiden University Medical Center (NL)
- Istituto Neurologico Mediterraneo (IT)
- University Hospital of Zurich (CH)
- University Hospital of Geneva (CH)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-19
- DOI
- https://doi.org/10.3389/fgene.2025.1522338
- Citations
- 1
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 1.46