Endometriosis

N14_ENDOMETRIOSIS

endometriosis: The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.

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Endpoint definition

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 N80
  • Hospital discharge: ICD-9 617
  • Hospital discharge: ICD-8 6253
  • Cause of death: ICD-10 N80
  • Cause of death: ICD-9 617
  • Cause of death: ICD-8 6253

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

18923

4. Check minimum number of events

None

18923

5. Include endpoints

18923

6. Filter based on genotype QC (FinnGen only)

18260

Control definitions (FinnGen only)

Control exclude N14_FEMALEGENNONINF

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 N80-N98
Name in latin Endometriosis

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 134008 134008 -
Only index persons 127670 127670 -
Unadjusted period prevalence (%)
Whole population 3.84 3.84 -
Only index persons 4.69 4.69 -
Median age at first event (years)
Whole population - 38.33 -
Only index persons - 38.00 -

-FinnGen-

Key figures

All Female Male
Number of individuals 18260 18260 -
Unadjusted period prevalence (%) 7.17 7.17 -
Median age at first event (years) 37.24 37.24 -

-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

Association

Association between endpoint N14_ENDOMETRIOSIS and mortality.

Females

Parameter HR [95% CI] p-value
N14_ENDOMETRIOSIS 0.751 [0.68, 0.84] < 0.001
Birth year 0.996 [0.99, 1.0] 0.277

During the follow-up period (1.1.1998 — 31.12.2019), 1435 out of 55651 females with N14_ENDOMETRIOSIS died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have N14_ENDOMETRIOSIS.

N-year risk Females Males
1 0.052% No data
5 0.428% No data
10 1.098% No data
15 2.202% No data
20 3.896% No data

Relationships between endpoints

Index endpoint: N14_ENDOMETRIOSIS – Endometriosis

GWS hits: 34

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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