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Generalized epilepsy

DOID EFO Endpoint Browser PheWeb

GE

Endpoint definition

↥

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 — G40.3
  • Hospital discharge: ICD-9 — 345[0-3]
  • Hospital discharge: ICD-8 — 34519
  • Hospital discharge: excluded ICD-8 — 34511
  • Cause of death: ICD-10 — G40.3
  • Cause of death: ICD-9 — 345[0-3]
  • Cause of death: ICD-8 — 34519
  • Cause of death: excluded ICD-8 — 34511

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

1615

4. Check minimum number of events

None

1615

5. Include endpoints

None

1615

6. Filter based on genotype QC (FinnGen only)

1543

Control definitions (FinnGen only)

Control exclude G6_EPLEPSY

Extra metadata

First used in FinnGen datafreeze DF3

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 23791 11883 11645
Only index persons 18264 9848 8416
Unadjusted period prevalence (%)
Whole population 0.33 0.34 0.33
Only index persons 0.34 0.36 0.32
Median age at first event (years)
Whole population 27.14 24.77 28.84
Only index persons 22.12 22.16 22.08

-FinnGen-

Key figures

All Female Male
Number of individuals 1543 937 606
Unadjusted period prevalence (%) 0.34 0.37 0.30
Median age at first event (years) 27.55 24.55 32.18

-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 GE and mortality.

Females

Parameter HR [95% CI] p-value
GE 3.087 [2.71, 3.52] < 0.001
Birth year 0.994 [0.99, 1.0] 0.17

During the follow-up period (1.1.1998 — 31.12.2019), 687 out of 6796 females with GE died.

Males

Parameter HR [95% CI] p-value
GE 2.745 [2.43, 3.11] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 870 out of 5793 males with GE died.

Mortality risk

Mortality risk for people of age

years, who have GE.

N-year risk Females Males
1 0.297% 0.461%
5 1.675% 3.273%
10 4.035% 7.686%
15 8.089% 14.45%
20 13.76% 22.713%

Relationships between endpoints

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Index endpoint: GE – Generalized epilepsy

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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