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Adrenogenital disorders

DOID Endpoint Browser PheWeb

E4_ADRENOGEN

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 — E25
  • Hospital discharge: ICD-9 — 2552
  • Hospital discharge: ICD-8 — 2550[1-2]
  • Cause of death: ICD-10 — E25
  • Cause of death: ICD-9 — 2552
  • Cause of death: ICD-8 — 2550[1-2]

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

148

4. Check minimum number of events

None

148

5. Include endpoints

None

148

6. Filter based on genotype QC (FinnGen only)

138

Control definitions (FinnGen only)

Control exclude E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E20-E35
Name in latin Perturbationes adrenogenitales

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 1321 789 518
Only index persons 1074 671 403
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 53.68 48.68 61.35
Only index persons 49.85 44.47 58.80

-FinnGen-

Key figures

All Female Male
Number of individuals 138 84 54
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 51.34 45.97 59.70

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint E4_ADRENOGEN and mortality.

Females

Parameter HR [95% CI] p-value
E4_ADRENOGEN 2.292 [1.79, 2.93] < 0.001
Birth year 0.995 [0.99, 1.0] 0.259

During the follow-up period (1.1.1998 — 31.12.2019), 185 out of 572 females with E4_ADRENOGEN died.

Males

Parameter HR [95% CI] p-value
E4_ADRENOGEN 2.783 [1.92, 4.04] < 0.001
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 182 out of 401 males with E4_ADRENOGEN died.

Mortality risk

Mortality risk for people of age

years, who have E4_ADRENOGEN.

N-year risk Females Males
1 0.204% 0.453%
5 1.287% 2.978%
10 3.461% 7.181%
15 6.431% 13.75%
20 11.168% 22.495%

Relationships between endpoints

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Index endpoint: E4_ADRENOGEN – Adrenogenital disorders

GWS hits: 1

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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