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Focal epilepsy

DOID EFO Endpoint Browser PheWeb

FE

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 — G40.0, G40.1, G40.2
  • Hospital discharge: ICD-9 — 345[45]
  • Hospital discharge: ICD-8 — 3453
  • Cause of death: ICD-10 — G40.0, G40.1, G40.2
  • Cause of death: ICD-9 — 345[45]
  • Cause of death: ICD-8 — 3453

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

8596

4. Check minimum number of events

None

8596

5. Include endpoints

None

8596

6. Filter based on genotype QC (FinnGen only)

8298

Control definitions (FinnGen only)

Control exclude G6_EPLEPSY

Extra metadata

First used in FinnGen datafreeze DF3
Parent code in ICD-10 G40

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 93716 43658 49305
Only index persons 78280 37622 40658
Unadjusted period prevalence (%)
Whole population 1.31 1.25 1.38
Only index persons 1.47 1.38 1.55
Median age at first event (years)
Whole population 51.09 50.54 51.41
Only index persons 49.13 48.68 49.54

-FinnGen-

Key figures

All Female Male
Number of individuals 8298 4158 4140
Unadjusted period prevalence (%) 1.86 1.63 2.08
Median age at first event (years) 51.89 46.66 57.15

-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 FE and mortality.

Females

Parameter HR [95% CI] p-value
FE 3.467 [3.14, 3.83] < 0.001
Birth year 0.993 [0.99, 1.0] 0.091

During the follow-up period (1.1.1998 — 31.12.2019), 10372 out of 32811 females with FE died.

Males

Parameter HR [95% CI] p-value
FE 3.414 [3.09, 3.78] < 0.001
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 13356 out of 36763 males with FE died.

Mortality risk

Mortality risk for people of age

years, who have FE.

N-year risk Females Males
1 0.319% 0.657%
5 2.023% 3.63%
10 4.947% 8.736%
15 8.595% 15.863%
20 15.413% 26.844%

Relationships between endpoints

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Index endpoint: FE – Focal epilepsy

GWS hits: -

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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