Otosclerosis, as genome-wide studies have reported it: 4 positions from 1 study, the largest recording 3,504 cases and 861,198 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
1 study in the GWAS Catalog report 4 positions for Otosclerosis, which the catalogue files as "Otosclerosis". MyGeneLog follows the condition as positions arrive: code builds this page from the records, adds each new position when it is reported, and writes no sentence of its own beyond them.
Rämö JT et al. 2023, in Nature Communications — Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. Studied in 3,504 cases and 861,198 controls (European ancestry). The 4 positions on this page from it: rs11868207 (LINC01482), rs7995158 (COL4A2), rs791903 (IP6K3), rs4636903 (near MTND5P34). PMID:36653343.
The 4 positions lie in or near 4 genes: LINC01482, COL4A2, IP6K3, MTND5P34. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
The strongest association in the records is rs11868207 in LINC01482, reported by Rämö JT et al. 2023 at P = 10-22, with an odds ratio of 1.34.
Association records say which positions differ, on average, between people with Otosclerosis and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Otosclerosis is diagnosed by a clinician — not from a genotype. None of the 4 variants on this page is used by any guideline to predict, screen for or diagnose it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Otosclerosis comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Otosclerosis. MyGeneLog™. https://www.mygenelog.com/conditions/otosclerosis
In the GWAS Catalog, Otosclerosis is filed as "Otosclerosis". Rather than define it, this page lists the genome-wide findings: 4 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 4 associated positions; the largest study behind this page recorded 3,504 cases and 861,198 controls (European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 4 genes: LINC01482, COL4A2, IP6K3, MTND5P34. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Otosclerosis is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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