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Primary ovarian failure

DOID EFO Endpoint Browser PheWeb

E4_OVARFAIL

primary ovarian insufficiency: Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.

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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 — E28.3
  • Hospital discharge: ICD-9 — 2563
  • Hospital discharge: ICD-8 — 2561
  • Cause of death: ICD-10 — E28.3
  • Cause of death: ICD-9 — 2563
  • Cause of death: ICD-8 — 2561
  • KELA reimbursements: KELA codes — ANY
  • KELA reimbursements: ICD-10 — E28.3

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

644

4. Check minimum number of events

None

644

5. Include endpoints

None

644

6. Filter based on genotype QC (FinnGen only)

599

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 E28
Name in latin Insufficientia ovariorum primaria

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 2798 2798 -
Only index persons 2690 2690 -
Unadjusted period prevalence (%)
Whole population 0.08 0.08 -
Only index persons 0.10 0.10 -
Median age at first event (years)
Whole population - 36.22 -
Only index persons - 36.17 -

-FinnGen-

Key figures

All Female Male
Number of individuals 599 599 -
Unadjusted period prevalence (%) 0.24 0.24 -
Median age at first event (years) 38.04 38.04 -

-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_OVARFAIL and mortality.

Females

Parameter HR [95% CI] p-value
E4_OVARFAIL 2.676 [2.14, 3.35] < 0.001
Birth year 0.992 [0.98, 1.0] 0.077

During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 2006 females with E4_OVARFAIL died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_OVARFAIL.

N-year risk Females Males
1 0.258% No data
5 1.402% No data
10 3.668% No data
15 7.081% No data
20 11.799% No data

Relationships between endpoints

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Index endpoint: E4_OVARFAIL – Primary ovarian failure

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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