rs116162923 - MAK, TMEM14B

Magnitude 4.5 · 1 study on file

Reported associations

• 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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