otosclerosis: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
2744 |
4. Check minimum number of eventsNone |
2744 |
5. Include endpointsNone |
2744 |
6. Filter based on genotype QC (FinnGen only) |
2638 |
Control definitions (FinnGen only)
Control exclude
H8_INNER
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H80-H83
Name in latin
Otosclerosis
Similar endpoints
↥List of similar endpoints to
Otosclerosis
based on the number of shared cases.
Similar with more cases:
- Diseases of inner ear
- Diseases of the ear and mastoid process
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 22316 | 13797 | 8374 |
| Only index persons | 20162 | 12689 | 7473 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.33 | 0.40 | 0.23 |
| Only index persons | 0.40 | 0.47 | 0.29 |
| Median age at first event (years) | |||
| Whole population | 46.35 | 46.34 | 46.36 |
| Only index persons | 45.60 | 45.55 | 45.69 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 2638 | 1684 | 954 |
| Unadjusted period prevalence (%) | 0.60 | 0.66 | 0.48 |
| Median age at first event (years) | 45.43 | 44.35 | 47.34 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Mortality – FinRegistry
↥Association
Association between endpoint H8_OTOSCLE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H8_OTOSCLE | 0.764 [0.69, 0.85] | < 0.001 |
| Birth year | 0.991 [0.98, 1.0] | 0.047 |
During the follow-up period (1.1.1998 — 31.12.2019), 728 out of 7721 females with H8_OTOSCLE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H8_OTOSCLE | 0.687 [0.62, 0.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.07 |
During the follow-up period (1.1.1998 — 31.12.2019), 547 out of 4710 males with H8_OTOSCLE died.
Mortality risk
Mortality risk for people of age
years, who have H8_OTOSCLE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.069% | 0.179% |
| 5 | 0.418% | 0.94% |
| 10 | 1.008% | 2.26% |
| 15 | 1.966% | 4.465% |
| 20 | 3.456% | 7.889% |
Relationships between endpoints
↥Index endpoint: H8_OTOSCLE – Otosclerosis
GWS hits: 30
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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