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Polycystic ovarian syndrome, consortium definition

Endpoint Browser PheWeb

E4_PCOS_CONCORTIUM

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

only females

265735

2. Check conditions

None

265735

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

Registry filters:

  • Hospital discharge: ICD-10 — L68.0#, N92.5, N92.6
  • Hospital discharge: ICD-9 — 626|7041
  • Hospital discharge: ICD-8 — 626|70405
  • Hospital discharge: excluded ICD-10 — E2839|E24|E23[0-4]|E25|F50|F11|D25|D352|E22|E221|C56|D27|Q96|N643|C74
  • Hospital discharge: excluded ICD-9 — 2563|25631|2568|2550|2580|2434A|2532[AB]2552|3071A|3072A|3075[AB]|304|2180|253X|2531X|2531A|2395|220|7586|2531A|2270|1940
  • Hospital discharge: excluded ICD-8 — 2561|255|258|2561|255|3065|304|21899|2262|253|253|183|22099|7595|253|2260
  • Cause of death: ICD-10 — L68.0#, N92.5, N92.6
  • Cause of death: ICD-9 — 626|7041
  • Cause of death: ICD-8 — 626|70405
  • Cause of death: excluded ICD-10 — E2839|E24|E23[0-4]|E25|F50|F11|D25|D352|E22|E221|C56|D27|Q96|N643|C74
  • Cause of death: excluded ICD-9 — 2563|25631|2568|2550|2580|2434A|2532[AB]2552|3071A|3072A|3075[AB]|304|2180|253X|2531X|2531A|2395|220|7586|2531A|2270|1940
  • Cause of death: excluded ICD-8 — 2561|255|258|2561|255|3065|304|21899|2262|253|253|183|22099|7595|253|2260

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

28499

4. Check minimum number of events

None

28499

5. Include endpoints

39900

6. Filter based on genotype QC (FinnGen only)

38322

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF6v3

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 332746 332746 -
Only index persons 300142 300142 -
Unadjusted period prevalence (%)
Whole population 9.53 9.53 -
Only index persons 11.03 11.03 -
Median age at first event (years)
Whole population - 41.76 -
Only index persons - 40.90 -

-FinnGen-

Key figures

All Female Male
Number of individuals 38322 38322 -
Unadjusted period prevalence (%) 15.05 15.05 -
Median age at first event (years) 39.73 39.73 -

-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 E4_PCOS_CONCORTIUM and mortality.

Females

Parameter HR [95% CI] p-value
E4_PCOS_CONCORTIUM 1.181 [1.08, 1.29] < 0.001
Birth year 0.993 [0.98, 1.0] 0.082

During the follow-up period (1.1.1998 — 31.12.2019), 3473 out of 117726 females with E4_PCOS_CONCORTIUM died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PCOS_CONCORTIUM.

N-year risk Females Males
1 0.084% No data
5 0.653% No data
10 1.669% No data
15 3.332% No data
20 5.927% No data

Relationships between endpoints

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Index endpoint: E4_PCOS_CONCORTIUM – Polycystic ovarian syndrome, consortium definition

GWS hits: 4

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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