Cerebral amyloid angiopathy

I9_CEREBAMY

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.

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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:

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

108

4. Check minimum number of events

None

108

5. Include endpoints

None

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

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 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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