rs10592836 - MARK3
Magnitude 2.8 · 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
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
-
Genetic risk stratification and family screening High
rs10592836-C is intronic in MARK3 with expression colocalizing to otosclerosis risk across 8 tissues; condition is familial in 50-60% of cases; early detection enables intervention
Review family history and discuss screening recommendations for first-degree relatives; consider genetic counseling
Screening
-
Baseline and periodic hearing assessment High
rs10592836 C allele increases otosclerosis risk (OR=1.25, p=2.79e-18); otosclerosis is progressive conductive hearing loss typically manifesting in 20s-50s with 50-60% familial recurrence
Baseline audiometry starting age 20-25; repeat every 1-2 years if asymptomatic