primary myelofibrosis: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
3 out of 7 registries used, show all original rules. |
1205 |
4. Check minimum number of eventsNone |
1205 |
5. Include endpointsNone |
1205 |
6. Filter based on genotype QC (FinnGen only) |
1171 |
Control definitions (FinnGen only)
Control exclude
C3_CANCER, C3_CANCER_WIDE
Extra metadata
First used in FinnGen datafreeze
DF8
Essential (haemorrhagic) thrombocythaemia
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 7386 | 4434 | 2920 |
| Only index persons | 6776 | 4112 | 2664 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.11 | 0.13 | 0.08 |
| Only index persons | 0.13 | 0.15 | 0.10 |
| Median age at first event (years) | |||
| Whole population | 65.45 | 66.09 | 64.42 |
| Only index persons | 64.72 | 65.35 | 63.73 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1171 | 689 | 482 |
| Unadjusted period prevalence (%) | 0.26 | 0.27 | 0.24 |
| Median age at first event (years) | 62.79 | 61.65 | 64.42 |
-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 THROMBOCYTAEMIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| THROMBOCYTAEMIA | 1.67 [1.48, 1.89] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.11 |
During the follow-up period (1.1.1998 — 31.12.2019), 986 out of 3701 females with THROMBOCYTAEMIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| THROMBOCYTAEMIA | 1.754 [1.51, 2.03] | < 0.001 |
| Birth year | 0.983 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 774 out of 2419 males with THROMBOCYTAEMIA died.
Mortality risk
Mortality risk for people of age
years, who have THROMBOCYTAEMIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.146% | 0.269% |
| 5 | 0.888% | 1.789% |
| 10 | 2.432% | 4.669% |
| 15 | 4.498% | 8.667% |
| 20 | 7.643% | 14.191% |
Relationships between endpoints
↥Index endpoint: THROMBOCYTAEMIA – Essential (haemorrhagic) thrombocythaemia
GWS hits: 7
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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