Familial erythrocytosis

D3_FAMIERYTHROCYTOCIS

Endpoint definition

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 D75.0
  • Hospital discharge: ICD-9 2896
  • Cause of death: ICD-10 D75.0
  • Cause of death: ICD-9 2896

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

167

4. Check minimum number of events

None

167

5. Include endpoints

None

167

6. Filter based on genotype QC (FinnGen only)

162

Control definitions (FinnGen only)

Control exclude D3_BLOODOTHER

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D75
Name in latin Erythrocytosis familialis

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 1157 448 700
Only index persons 1033 383 650
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 56.72 59.64 54.64
Only index persons 55.02 57.68 53.46

-FinnGen-

Key figures

All Female Male
Number of individuals 162 65 97
Unadjusted period prevalence (%) 0.04 0.03 0.05
Median age at first event (years) 57.30 58.46 56.52

-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

Association

Association between endpoint D3_FAMIERYTHROCYTOCIS and mortality.

Females

Parameter HR [95% CI] p-value
D3_FAMIERYTHROCYTOCIS 2.131 [1.65, 2.76] < 0.001
Birth year 0.992 [0.98, 1.0] 0.091

During the follow-up period (1.1.1998 — 31.12.2019), 121 out of 403 females with D3_FAMIERYTHROCYTOCIS died.

Males

Parameter HR [95% CI] p-value
D3_FAMIERYTHROCYTOCIS 1.315 [1.05, 1.65] 0.018
Birth year 0.99 [0.98, 1.0] 0.029

During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 643 males with D3_FAMIERYTHROCYTOCIS died.

Mortality risk

Mortality risk for people of age

years, who have D3_FAMIERYTHROCYTOCIS.

N-year risk Females Males
1 0.197% 0.228%
5 1.084% 1.671%
10 2.786% 4.14%
15 5.386% 7.803%
20 9.707% 13.227%

Relationships between endpoints

Index endpoint: D3_FAMIERYTHROCYTOCIS – Familial erythrocytosis

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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