Expressive

rs121908932 - COCH

Magnitude 4.5 · 1 study on file

Reported associations

  • Population-scale analysis of common and rare genetic variation associated with hearing loss in adults - Unknown journal (n.d.) · Unknown authors · PubMed 35661827

    ABSTRACT: To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3. Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing loss genes, including additive effects in known hearing loss genes GJB2 (Gly12fs; odds ratio [OR] = 1.21, P = 4.2 × 10−11) and SLC26A5 (gene burden; OR = 1.96, P = 2.8 × 10−17). We also identified hearing loss associations with rare coding variants in FSCN2 (OR = 1.14, P = 1.9 × 10−15) and KLHDC7B (OR = 2.14, P = 5.2 × 10−30). Our results sugg

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Lifestyle context

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

Discuss with your doctor

  • genetic counseling and family member screening High

    Autosomal dominant inheritance; first-degree relatives have 50% risk of carrying the variant and should be offered testing

    • ClinVar:6614

Screening

  • hearing assessment and audiological monitoring High

    Pathogenic COCH variants cause autosomal dominant progressive hearing loss; serial testing detects disease progression

    baseline audiometry, then annual assessment or as clinically indicated