thrombophilia: A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.
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: 2 out of 7 registries used, show all original rules. |
2491 |
4. Check minimum number of eventsNone |
2491 |
5. Include endpoints |
2536 |
6. Filter based on genotype QC (FinnGen only) |
2441 |
Control definitions (FinnGen only)
Control exclude
D3_COAGDEF_PURPUR_HAEMORRHAGIC
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D65-D69
Name in latin
Aliae defectus coagulationis
Similar endpoints
↥List of similar endpoints to
Other coagulation defects
based on the number of shared cases.
Similar with more cases:
- Coagulation defects, purpura and other haemorrhagic conditions
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 20109 | 12309 | 7658 |
| Only index persons | 17670 | 11271 | 6399 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.30 | 0.35 | 0.21 |
| Only index persons | 0.35 | 0.41 | 0.24 |
| Median age at first event (years) | |||
| Whole population | 47.12 | 40.21 | 58.04 |
| Only index persons | 45.48 | 39.12 | 56.67 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 2441 | 1632 | 809 |
| Unadjusted period prevalence (%) | 0.56 | 0.64 | 0.41 |
| Median age at first event (years) | 47.89 | 41.17 | 61.46 |
-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 D3_COAGOTHER and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_COAGOTHER | 1.969 [1.68, 2.3] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.102 |
During the follow-up period (1.1.1998 — 31.12.2019), 866 out of 9259 females with D3_COAGOTHER died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_COAGOTHER | 2.037 [1.76, 2.36] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.009 |
During the follow-up period (1.1.1998 — 31.12.2019), 960 out of 4790 males with D3_COAGOTHER died.
Mortality risk
Mortality risk for people of age
years, who have D3_COAGOTHER.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.198% | 0.418% |
| 5 | 1.027% | 2.321% |
| 10 | 2.67% | 5.891% |
| 15 | 4.974% | 10.495% |
| 20 | 8.859% | 18.28% |
Relationships between endpoints
↥Index endpoint: D3_COAGOTHER – Other coagulation defects
GWS hits: 33
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
Loading data