rs117887149 - LINC00556 - GJB2
Magnitude 2.2 · 1 study on file
Reported associations
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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.
Screening
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hearing assessment and periodic audiometric screening Moderate
rs117887149 is associated with 11.4% increased risk of hearing loss; early detection enables intervention to prevent social isolation, cognitive decline, and dementia risk
Baseline hearing test followed by screening every 3-5 years or sooner if hearing changes reported
- GWAS_CATALOG:35661827