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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
124 |
4. Check minimum number of eventsNone |
124 |
5. Include endpointsNone |
124 |
6. Filter based on genotype QC (FinnGen only) |
124 |
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, wide definition
- 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 | 124 | 48 | 76 |
| Unadjusted period prevalence (%) | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | 73.58 | 72.84 | 74.05 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 108
- Matched controls
- 1080
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
I68.0*E85.9
ICD-10 Finland
Cerebral amyloid angiopathy
+∞
89.4
73
*
I68.0
ICD-10 Finland
Cerebral amyloid angiopathy
+∞
62.8
54
*
I63.9
ICD-10 Finland
Cerebral infarction, unspecified
410.4
31.6
30
*
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
338.2
27.0
26
*
AA1AD
NOMESCO Finland
CT of head and brain
9.7
24.6
62
131
I61.9
ICD-10 Finland
Intracerebral haemorrhage, unspecified
+∞
23.8
22
*
I61.0
ICD-10 Finland
Intracerebral haemorrhage in hemisphere, subcortical
+∞
20.5
19
*
I69.1
ICD-10 Finland
Sequelae of intracerebral haemorrhage
+∞
19.3
18
*
I61.1
ICD-10 Finland
Intracerebral haemorrhage in hemisphere, cortical
+∞
19.3
18
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
14.5
18.0
31
29
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
6.5
14.4
43
100
G45.9
ICD-10 Finland
Transient cerebral ischaemic attack, unspecified
12.5
13.3
24
24
E85.9
ICD-10 Finland
Amyloidosis, unspecified
146.3
12.7
13
*
R4120
NOMESCO Finland
Occupational therapy
15.1
11.7
19
15
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
9.1
10.9
23
31
I63.5
ICD-10 Finland
Cerebral infarction due to unspecified occlusion or stenosis of cerebral arteries
+∞
10.6
10
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
33.4
9.6
12
*
I63.3
ICD-10 Finland
Cerebral infarction due to thrombosis of cerebral arteries
+∞
9.5
9
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
11.5
8.9
16
16
PA7AD
NOMESCO Finland
CT angiography of head and neck vasculature
30.3
8.7
11
*
K90
ICPC
Stroke/cerebrovascular accident
24.2
8.2
11
5
R41.8
ICD-10 Finland
Other and unspecified symptoms and signs involving cognitive functions and awareness
5.3
7.8
24
55
R51.80
ICD-10 Finland
Headache
5.3
7.5
23
52
XA800
NOMESCO Finland
Neuropsychological investigation
17.3
7.4
11
7
N03AF02
ATC
oxcarbazepine; oral
13.3
7.3
12
10
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
21.8
7.3
10
5
R90.8
ICD-10 Finland
Other abnormal findings on diagnostic imaging of central nervous system
32.4
7.3
9
*
N03AX14
ATC
levetiracetam; systemic
32.4
7.3
9
*
P20
ICPC
Memory disturbance
4.0
6.9
29
91
PA2BD
NOMESCO Finland
Extensive CT angiography of brain
19.4
6.4
9
5
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
19.4
6.4
9
5
R41.0
ICD-10 Finland
Disorientation, unspecified
13.6
6.2
10
8
SPAT1229
SPAT
Assessment of need for aid
5.0
6.1
19
44
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
90
317
7.71
26.50
3.1
1.9
162.4
260.8
u/l
0.73
90
290
22
18
14.64
22.70
1.4
1.2
714.7
626.9
mg/l
0.17
22
18
93
569
3.54
8.95
9.2
7.2
1.2
1.2
mmol/l
0.67
72
467
87
519
3.27
8.58
6.9
6.4
1.2
1.2
mmol/l
0.02
76
458
52
233
3.12
8.51
2.2
1.8
976.0
1260.9
nmol/l
1.79
41
175
80
466
3.02
8.03
2.5
2.1
79.7
93.9
pmol/l
2.34
51
249
109
777
4.33
7.47
5.4
4.1
14.6
13.0
mm/h
0.44
101
698
10
5
21.56
7.26
1.2
1.2
—
—
—
0
0
43
187
2.99
7.25
2.2
1.9
—
—
—
0
0
11
8
14.92
7.03
1.1
1.1
—
—
—
0
0
11
8
14.92
7.03
1.1
1.1
—
—
—
0
0
10
6
17.95
6.87
1.1
1.0
—
—
—
0
0
55
294
2.56
6.05
1.8
1.6
16.2
21.9
nmol/l
2.82
46
239
110
856
3.52
5.15
8.6
8.0
75.2
80.5
u/l
1.05
103
792
68
430
2.29
4.86
2.7
2.3
83.2
80.1
nmol/l
0.37
61
365
119
1021
5.10
4.73
25.4
16.2
25.8
25.7
mg/l
0.01
103
825
117
988
4.26
4.73
6.4
6.7
40.6
40.9
mmol/mol
0.12
106
898
62
385
2.22
4.55
4.3
3.7
2.3
2.4
mmol/l
0.68
49
337
15
45
3.65
4.49
1.5
2.0
—
—
—
0
0
14
40
3.82
4.48
1.6
1.7
—
—
—
0
0
19
67
3.17
4.46
1.6
1.8
—
—
—
0
0
10
25
4.26
3.78
1.7
2.4
85.4
79.1
%
—
10
25
116
1003
3.42
3.71
5.2
5.0
4.2
4.4
mmol/l
1.51
106
899
96
746
2.27
3.62
3.7
3.8
15.5
15.0
pmol/l
0.87
87
650
115
991
3.21
3.59
5.2
4.9
1.4
1.5
mmol/l
0.88
106
881
112
941
2.97
3.40
4.9
4.5
1.9
2.0
mu/l
0.35
103
814
117
1031
3.39
3.35
5.8
5.6
2.5
2.6
mmol/l
0.88
107
917
44
265
2.02
3.28
1.7
1.9
294118066.5
455.1
pmol/l
0.49
34
213
113
962
2.97
3.18
4.5
4.4
1.2
1.3
mmol/l
0.59
102
851
38
219
2.06
3.18
6.8
3.3
460.8
169.0
ng/l
0.31
32
185
80
597
1.96
3.14
9.5
10.0
4.8
4.2
e9/l
0.50
70
525
26
130
2.27
3.09
2.5
1.8
—
—
—
0
0
26
133
2.21
2.93
2.4
1.9
—
—
—
0
0
44
275
1.93
2.90
2.0
2.0
2.5
3.2
mg/l
1.67
36
235
18
79
2.50
2.83
1.5
3.9
2.0
2.2
mmol/l
0.07
13
61
5
6
8.61
2.77
1.0
1.0
—
—
—
0
0
5
6
8.61
2.77
1.0
1.2
—
—
—
0
0
12
43
2.98
2.73
5.4
2.2
2.6
3.0
g/l
—
7
34
27
145
2.10
2.69
4.6
5.2
30.7
34.0
%
0.77
21
88
41
257
1.89
2.65
2.3
2.6
—
—
—
0
0
53
363
1.80
2.57
2.3
2.5
57.8
58.2
u/l
0.04
48
335
11
39
3.00
2.55
1.1
1.6
—
—
—
0
0
12
47
2.72
2.35
5.4
2.1
6.9
7.8
g/l
—
7
36
66
495
1.71
2.26
4.4
4.6
—
—
—
0
0
58
421
1.71
2.23
4.5
3.3
—
—
—
0
0
64
487
1.65
2.00
4.8
4.1
28.5
48.6
ng/l
1.46
56
391
27
161
1.87
1.99
1.1
1.2
97.5
46.4
iu/ml
0.36
15
46
63
478
1.65
1.99
2.5
2.2
—
—
—
0
0
53
389
1.63
1.88
2.3
2.7
190.2
173.7
ug/l
0.15
46
344
9
35
2.69
1.84
7.9
5.3
19.9
30.9
mg/l
—
9
24
11
47
2.47
1.83
5.8
2.1
—
—
—
0
0
11
47
2.47
1.83
5.8
2.1
3.0
3.7
g/l
—
6
34
118
1092
2.66
1.79
15.2
11.5
22.5
24.6
u/l
1.20
110
1039
8
30
2.78
1.75
1.3
1.2
—
—
—
0
0
5
13
3.96
1.73
1.4
1.5
—
—
—
0
0
6
19
3.26
1.68
1.2
1.1
—
—
—
0
0
14
71
2.10
1.61
4.0
10.2
25.8
24.6
mmol/l
1.02
14
71
117
1088
2.33
1.57
29.6
19.9
86.4
83.0
umol/l
0.49
117
1088
5
15
3.43
1.54
1.0
1.5
—
—
—
0
0
112
1021
2.00
1.48
5.5
5.3
6.0
6.1
mmol/l
0.29
103
901
66
537
1.49
1.37
5.2
3.8
0.0
0.0
estimate
0.00
13
102
8
35
2.37
1.29
8.8
5.3
29.8
106.6
mg/l
—
8
24
41
306
1.51
1.28
6.3
4.1
0.0
0.0
estimate
0.00
13
106
64
527
1.44
1.20
5.1
3.8
0.0
0.0
estimate
0.00
14
111
24
163
1.59
1.12
2.2
2.5
20.8
23.7
%
0.51
17
138
7
31
2.33
1.12
1.3
1.2
—
—
—
0
0
20
130
1.64
1.11
2.1
4.7
7.5
87.7
ug/l
0.74
15
110
51
412
1.40
1.03
5.6
4.1
—
—
—
0
0
31
229
1.47
1.00
2.0
1.9
1.3
1.4
mg/l
0.06
25
188
63
530
1.38
0.99
6.5
5.0
0.0
0.0
estimate
0.00
15
109
37
284
1.43
0.98
3.4
3.1
364.0
6630.1
umol/l
1.27
32
231
21
149
1.49
0.82
1.1
1.3
64.9
9.4
u/ml
—
5
45
18
124
1.53
0.80
1.7
2.3
4.8
5.8
ug/l
0.23
13
107
6
34
1.80
0.77
1.3
1.9
—
—
—
0
0
5
23
2.22
0.77
1.0
1.1
—
—
—
0
0
20
144
1.46
0.74
5.3
4.6
224.3
246.7
u/l
0.75
20
137
15
104
1.50
0.66
2.9
4.9
1.2
1.2
mmol/l
0.45
15
90
49
419
1.28
0.62
2.4
3.3
1970.5
1289.9
ng/l
0.45
44
360
5
30
1.69
0.62
2.4
1.5
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
60
529
1.26
0.59
5.3
5.7
2.1
2.7
ug/l
0.40
54
461
104
983
1.36
0.56
21.0
16.2
72.5
73.4
ml/min/173m2
0.19
89
818
7
45
1.59
0.50
2.9
3.0
—
—
—
0
0
19
147
1.35
0.49
6.4
8.0
—
—
—
0
0
23
184
1.31
0.48
4.7
3.1
1.7
1.0
e6/l
0.34
15
106
47
414
1.22
0.44
4.1
4.9
18.4
21.9
%
1.11
21
227
8
55
1.49
0.44
8.0
15.5
23.5
24.9
mmol/l
—
8
49
5
33
1.54
0.42
1.4
1.9
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
9
70
1.31
0.37
1.9
1.3
—
—
—
0
0
24
203
1.23
0.33
4.0
2.8
0.6
1.1
e6/l
0.91
16
122
10
77
1.32
0.27
1.8
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
14.1
—
0
10
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
4.7
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
—
—
0
0
6
52
1.16
0.19
4.7
2.5
25.2
24.2
mmol/l
—
6
46
17
147
1.18
0.19
6.1
3.8
—
—
—
0
0
10
120
0.82
0.17
3.4
3.3
6.3
9.6
umol/l
—
10
107
9
79
1.15
0.15
8.4
11.6
0.9
1.4
%
—
9
79
28
297
0.93
0.09
2.7
3.0
0.7
0.8
ug/l
0.16
23
209
5
60
0.83
0.08
2.0
3.6
43.4
79.2
u/ml
—
5
51
7
66
1.06
0.08
1.6
2.2
1.0
1.3
%
—
7
66
12
114
1.06
0.01
1.3
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
16.1
—
0
7
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
9
92
0.98
0.00
2.2
2.3
33.0
34.1
u/l
—
9
75
0
7
0.00
0.00
0.0
3.0
—
69.6
—
0
7
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
1201.1
—
0
8
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
5.8
—
245.4
—
0
8
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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