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Progressive vascular leukoencephalopathy

DOID EFO Endpoint Browser PheWeb

I9_PROGVASC

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 — I67.3
  • Cause of death: ICD-10 — I67.3

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

964

4. Check minimum number of events

None

964

5. Include endpoints

None

964

6. Filter based on genotype QC (FinnGen only)

930

Control definitions (FinnGen only)

Control exclude I9_CEREBVASC

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 I67
Name in latin Leucoencephalopathia vascularis progressiva

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 8396 4988 3358
Only index persons 7636 4604 3032
Unadjusted period prevalence (%)
Whole population 0.12 0.14 0.09
Only index persons 0.15 0.17 0.12
Median age at first event (years)
Whole population 80.45 81.63 78.75
Only index persons 80.80 81.89 79.13

-FinnGen-

Key figures

All Female Male
Number of individuals 930 474 456
Unadjusted period prevalence (%) 0.21 0.19 0.23
Median age at first event (years) 79.46 79.75 79.17

-FinRegistry-

Age distribution of first events

020304050607080900.0k0.5k1.0k1.5k2.0k2.5k3.0k3.5kAgeIndividuals

-FinnGen-

Age distribution of first events

010205060708090050100150200250300350AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519902000200520102015202020220.0k0.5k1.0k1.5k2.0k2.5k3.0kYearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020052010201520202023050100150200250300350YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

01020304050607080901000.00.20.40.60.81.01.21.41.61.82.0AgeProbability of first incidence (%)

Mortality – FinRegistry

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Association

Association between endpoint I9_PROGVASC and mortality.

Females

Parameter HR [95% CI] p-value
I9_PROGVASC 1.801 [1.51, 2.14] < 0.001
Birth year 0.998 [0.99, 1.01] 0.614

During the follow-up period (1.1.1998 — 31.12.2019), 1426 out of 3641 females with I9_PROGVASC died.

Males

Parameter HR [95% CI] p-value
I9_PROGVASC 2.237 [1.78, 2.82] < 0.001
Birth year 0.984 [0.98, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 1110 out of 2445 males with I9_PROGVASC died.

Mortality risk

Mortality risk for people of age

years, who have I9_PROGVASC.

N-year risk Females Males
1 0.181% 0.372%
5 1.113% 2.372%
10 2.898% 6.012%
15 5.374% 11.12%
20 9.441% 18.33%

Relationships between endpoints

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Index endpoint: I9_PROGVASC – Progressive vascular leukoencephalopathy

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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