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Cholesteatoma of middle ear

DOID EFO Endpoint Browser PheWeb

H8_CHOLEASTOMA

cholesteatoma of middle ear: A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — H71
  • Hospital discharge: ICD-9 — 3853
  • Hospital discharge: ICD-8 — 38700
  • Cause of death: ICD-10 — H71
  • Cause of death: ICD-9 — 3853
  • Cause of death: ICD-8 — 38700

2 out of 7 registries used, show all original rules.

1791

4. Check minimum number of events

None

1791

5. Include endpoints

None

1791

6. Filter based on genotype QC (FinnGen only)

1710

Control definitions (FinnGen only)

Control exclude H8_MIDDLEMASTOID

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H65-H75
Name in latin Cholesteatoma auris mediae

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 17391 7390 9876
Only index persons 15196 6641 8555
Unadjusted period prevalence (%)
Whole population 0.25 0.21 0.28
Only index persons 0.29 0.24 0.33
Median age at first event (years)
Whole population 46.07 49.35 43.53
Only index persons 44.52 48.24 41.62

-FinnGen-

Key figures

All Female Male
Number of individuals 1710 751 959
Unadjusted period prevalence (%) 0.40 0.29 0.48
Median age at first event (years) 48.47 46.66 49.89

-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

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Association

Association between endpoint H8_CHOLEASTOMA and mortality.

Females

Parameter HR [95% CI] p-value
H8_CHOLEASTOMA 1.047 [0.94, 1.16] 0.395
Birth year 0.997 [0.99, 1.01] 0.45

During the follow-up period (1.1.1998 — 31.12.2019), 785 out of 4102 females with H8_CHOLEASTOMA died.

Males

Parameter HR [95% CI] p-value
H8_CHOLEASTOMA 1.029 [0.93, 1.14] 0.572
Birth year 0.99 [0.98, 1.0] 0.038

During the follow-up period (1.1.1998 — 31.12.2019), 1025 out of 5237 males with H8_CHOLEASTOMA died.

Mortality risk

Mortality risk for people of age

years, who have H8_CHOLEASTOMA.

N-year risk Females Males
1 0.123% 0.193%
5 0.634% 1.217%
10 1.682% 3.257%
15 3.035% 6.167%
20 5.517% 10.486%

Relationships between endpoints

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Index endpoint: H8_CHOLEASTOMA – Cholesteatoma of middle ear

GWS hits: 2

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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