A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens

BMC Medicine

Åsa Johansson¹  Mathias Rask-Andersen¹  Wei Liu²  Helge Rask-Andersen² 

[1] Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden;Department of Surgical Sciences, Section of Otorhinolaryngology and Head & Neck Surgery, Uppsala University, SE-751 85, Uppsala, Sweden;

关键词: Age-related hearing loss;    Human gene expression;    Structured illumination microscopy;    GWAS;   

DOI  :  10.1186/s12916-021-02169-0

来源: Springer

【 摘 要 】

BackgroundSensorineural hearing loss is one of the most common sensory deficiencies. However, the molecular contribution to age-related hearing loss is not fully elucidated.MethodsWe performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a high confidence set of ten hearing-associated gene products for staining in human cochlear samples: EYA4, LMX1A, PTK2/FAK, UBE3B, MMP2, SYNJ2, GRM5, TRIOBP, LMO-7, and NOX4.ResultsAll proteins were found to be expressed in human cochlear structures. Our findings illustrate cochlear structures that mediate mechano-electric transduction of auditory stimuli, neuronal conductance, and neuronal plasticity to be involved in age-related hearing loss.ConclusionsOur results suggest common genetic variation to influence structural resilience to damage as well as cochlear recovery after trauma, which protect against accumulated damage to cochlear structures and the development of hearing loss over time.

【 授权许可】

CC BY