cerebral amyloid angiopathy: Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
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. |
108 |
4. Check minimum number of eventsNone |
108 |
5. Include endpointsNone |
108 |
6. Filter based on genotype QC (FinnGen only) |
101 |
Control definitions (FinnGen only)
Control exclude
I9_CEREBVASC
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Cerebral amyloid angiopathy
based on the number of shared cases.
Similar with more cases:
- Cerebrovascular diseases
- Neurological diseases
- Cardiovascular diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 791 | 364 | 421 |
| Only index persons | 742 | 344 | 398 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 74.51 | 75.07 | 73.97 |
| Only index persons | 74.47 | 75.07 | 73.94 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 101 | 40 | 61 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 73.03 | 72.97 | 73.07 |
-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 I9_CEREBAMY and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| I9_CEREBAMY | 3.173 [1.99, 5.06] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.346 |
During the follow-up period (1.1.1998 — 31.12.2019), 96 out of 255 females with I9_CEREBAMY died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| I9_CEREBAMY | 3.149 [2.01, 4.93] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.018 |
During the follow-up period (1.1.1998 — 31.12.2019), 116 out of 278 males with I9_CEREBAMY died.
Mortality risk
Mortality risk for people of age
years, who have I9_CEREBAMY.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.33% | 0.564% |
| 5 | 2.108% | 3.809% |
| 10 | 4.917% | 9.085% |
| 15 | 9.426% | 16.378% |
| 20 | 15.814% | 27.056% |
Relationships between endpoints
↥Index endpoint: I9_CEREBAMY – Cerebral amyloid angiopathy
GWS hits: 1
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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