rs118176061 - OR4A6P - TRIM48

Magnitude 4.5 · 1 study on file

Reported associations

  • Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty - Unknown journal (n.d.) · Unknown authors · PubMed 32986727

    ABSTRACT: Age-related hearing impairment (ARHI), one of the most common medical conditions, is strongly heritable, yet its genetic causes remain largely unknown. We conducted a meta-analysis of GWAS summary statistics from multiple hearing-related traits in the UK Biobank (n = up to 330,759) and identified 31 genome-wide significant risk loci for self-reported hearing difficulty (p < 5x10-8), of which eight have not been reported previously in the peer-reviewed literature. We investigated the regulatory and cell specific expression for these loci by generating mRNA-seq, ATAC-seq, and single-cell RNA-seq from cells in the mouse cochlea. Risk-associated genes were most strongly enriched for expression in cochlear epithelial cells, as well as for genes related to sensory perception and known


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Lifestyle

  • chronic occupational noise exposure Moderate

    Genetic predisposition compounds cochlear damage from noise exposure

    Use hearing protection in loud environments, keep occupational noise <85dB

Screening

  • baseline audiometry by age 50 Moderate

    SNP associated with age-related hearing impairment; early detection enables intervention

    Baseline audiometry by age 50, repeat every 3-5 years

  • hearing function status Moderate

    Genetic risk warrants proactive monitoring for early hearing changes

    Annual audiometry after age 60, or sooner if hearing symptoms develop