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Polycythaemia vera

DOID EFO Endpoint Browser PheWeb

POLYCYTVERA

chronic myeloproliferative disorder: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)

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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 — D45
  • Hospital discharge: ICD-9 — 2384
  • Hospital discharge: ICD-8 — 208
  • Cause of death: ICD-10 — D45
  • Cause of death: ICD-9 — 2384
  • Cause of death: ICD-8 — 208
  • Cancer registry: Topography ICD-O-3 — ANY
  • Cancer registry: Morphology ICD-O-3 — 9950
  • Cancer registry: Behaviour codes — 3

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

1118

4. Check minimum number of events

None

1118

5. Include endpoints

None

1118

6. Filter based on genotype QC (FinnGen only)

1084

Control definitions (FinnGen only)

Control exclude C3_CANCER, C3_CANCER_WIDE

Extra metadata

First used in FinnGen datafreeze DF8

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 8645 4398 4141
Only index persons 6571 3383 3188
Unadjusted period prevalence (%)
Whole population 0.12 0.13 0.12
Only index persons 0.12 0.12 0.12
Median age at first event (years)
Whole population 67.45 69.26 65.58
Only index persons 67.11 69.04 65.06

-FinnGen-

Key figures

All Female Male
Number of individuals 1084 522 562
Unadjusted period prevalence (%) 0.25 0.21 0.28
Median age at first event (years) 65.10 64.48 65.67

-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 POLYCYTVERA and mortality.

Females

Parameter HR [95% CI] p-value
POLYCYTVERA 2.079 [1.84, 2.35] < 0.001
Birth year 0.99 [0.98, 1.0] 0.027

During the follow-up period (1.1.1998 — 31.12.2019), 1275 out of 3089 females with POLYCYTVERA died.

Males

Parameter HR [95% CI] p-value
POLYCYTVERA 1.913 [1.67, 2.19] < 0.001
Birth year 0.986 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 1129 out of 2970 males with POLYCYTVERA died.

Mortality risk

Mortality risk for people of age

years, who have POLYCYTVERA.

N-year risk Females Males
1 0.135% 0.366%
5 0.975% 2.055%
10 2.376% 5.434%
15 4.47% 10.324%
20 8.094% 16.756%

Relationships between endpoints

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Index endpoint: POLYCYTVERA – Polycythaemia vera

GWS hits: 10

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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