The largest genetic study of hearing loss, in 723,266 people, found 48 loci — and traced the common-variant signal to a specific structure in the inner ear, the stria vascularis. This page holds 15 of those positions.
Age-related hearing loss is the gradual loss of hearing that comes with getting older, usually starting with high-pitched sounds. It is one of the largest contributors to years lived with disability worldwide, and it is a recognised risk factor for dementia. How much of it a person gets is partly inherited.
Trpchevska et al. 2022 combined genome-wide studies of clinically diagnosed and self-reported hearing impairment in 723,266 people — 147,997 with hearing impairment and 575,269 without, of European ancestry — and found 48 significant loci, 10 of them new. This page holds 15 of those positions.
Two things about the result stand out. First, a large proportion of the associations were missense variants — changes that alter a protein — and half of those sat inside genes already known from inherited, familial forms of hearing loss. The common, late-life condition and the rare, early-life ones turn out to share genes. Three of this page's positions are missense: rs143282422 in CDH23, rs143796236 in FSCN2 and rs61734651 in COL9A3. CDH23 is long established in inherited hearing loss: it builds part of the links between the hair-like bundles of the inner ear's sensory cells.
The study then asked which cells the signal acts in, using single-cell RNA sequencing from mouse cochlea and brain. The common-variant results mapped to the spindle, root and basal cells of the stria vascularis — a strip of tissue on the wall of the cochlea that maintains the electrical and chemical environment the sensory cells need. That points the search for treatments at a specific structure rather than at the sensory hair cells alone.
Hearing loss from a different cause altogether — a mitochondrial variant that makes one class of antibiotic toxic to the inner ear — has its own page: aminoglycoside-induced hearing loss. The senses topic collects what this site holds on hearing, smell and taste.
Hearing loss is diagnosed with a hearing test (audiometry), not from a genotype. None of the 15 variants on this page is used by any guideline to predict, screen for or diagnose age-related hearing loss.
Each variant here shifts the measured risk by a very small amount, and the study's own purpose was to find the biology, not to predict individuals. Noise exposure, age and ear health are what a clinician weighs, and a hearing test is what settles the question. Hearing aids and, where indicated, cochlear implants are the established treatments.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Age-Related Hearing Loss comes down to these specific, well-studied positions — not a diagnosis.
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Age-Related Hearing Loss. MyGeneLog™. https://www.mygenelog.com/conditions/age-related-hearing-loss
The gradual loss of hearing that comes with ageing, usually beginning with high-pitched sounds. It is one of the largest contributors to years lived with disability and a recognised risk factor for dementia.
Partly. The largest genetic study, in 723,266 people, found 48 associated loci. Each has a very small effect; noise exposure and age matter as well.
A strip of tissue on the wall of the cochlea that maintains the chemical and electrical environment the inner ear needs. The 2022 study mapped the common-variant signal for hearing loss to its spindle, root and basal cells.
No. They are population-level findings of very small effect. Hearing loss is diagnosed with a hearing test, and no guideline uses a genotype to predict it.
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