rs10806231 - LINC02542
Magnitude 2.2 · 1 study on file
Reported associations
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Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure - Unknown journal (n.d.) · Unknown authors · PubMed 36653343
ABSTRACT: Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN. Here, we report a meta-analysis of GWAS studies of otosclerosis in three population-based biobanks comprising 3504 cases and 861,198 controls. We identify 23 novel risk loci (p < 5 × 10−8) and report an association in RELN and three previously reported candidate gene or linkage regions (TGFB1, MEPE, and OTSC7). We demonstrate developmental stage-dependent immunostaining patterns of MEPE and RUNX2 in m
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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audiological function and otosclerosis progression Moderate
LINC02542 variants are significantly associated with otosclerosis, a progressive genetic condition affecting inner ear bone.
Annual audiometry after initial baseline assessment to detect progressive hearing loss