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

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Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — I68.0, I68.0E85.9 Cause of death: ICD-10 — I68.0, I68.0E85.9 2 out of 7 registries used, show all original rules.	124
4. Check minimum number of events None	124
5. Include endpoints None	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

NAME	I9_CEREBAMY
CONTROL_EXCLUDE	I9_CEREBVASC
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	I680
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	I680
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Cerebral amyloid angiopathy based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-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)

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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

I68.0

ICD-10 Finland

Cerebral amyloid angiopathy

+∞

62.8

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

410.4

31.6

I69.3

ICD-10 Finland

Sequelae of cerebral infarction

338.2

27.0

AA1AD

NOMESCO Finland

CT of head and brain

9.7

24.6

131

I61.9

ICD-10 Finland

Intracerebral haemorrhage, unspecified

+∞

23.8

I61.0

ICD-10 Finland

Intracerebral haemorrhage in hemisphere, subcortical

+∞

20.5

I69.1

ICD-10 Finland

Sequelae of intracerebral haemorrhage

+∞

19.3

I61.1

ICD-10 Finland

Intracerebral haemorrhage in hemisphere, cortical

+∞

19.3

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

14.5

18.0

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

6.5

14.4

100

G45.9

ICD-10 Finland

Transient cerebral ischaemic attack, unspecified

12.5

13.3

E85.9

ICD-10 Finland

Amyloidosis, unspecified

146.3

12.7

R4120

NOMESCO Finland

Occupational therapy

15.1

11.7

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

9.1

10.9

I63.5

ICD-10 Finland

Cerebral infarction due to unspecified occlusion or stenosis of cerebral arteries

+∞

10.6

G40.9

ICD-10 Finland

Epilepsy, unspecified

33.4

9.6

I63.3

ICD-10 Finland

Cerebral infarction due to thrombosis of cerebral arteries

+∞

9.5

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

11.5

8.9

PA7AD

NOMESCO Finland

CT angiography of head and neck vasculature

30.3

8.7

K90

ICPC

Stroke/cerebrovascular accident

24.2

8.2

R41.8

ICD-10 Finland

Other and unspecified symptoms and signs involving cognitive functions and awareness

5.3

7.8

R51.80

ICD-10 Finland

Headache

5.3

7.5

XA800

NOMESCO Finland

Neuropsychological investigation

17.3

7.4

N03AF02

ATC

oxcarbazepine; oral

13.3

7.3

G40.29

ICD-10 Finland

Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures

21.8

7.3

R90.8

ICD-10 Finland

Other abnormal findings on diagnostic imaging of central nervous system

32.4

7.3

N03AX14

ATC

levetiracetam; systemic

32.4

7.3

P20

ICPC

Memory disturbance

4.0

6.9

PA2BD

NOMESCO Finland

Extensive CT angiography of brain

19.4

6.4

AA1CM

NOMESCO Finland

Extensive MRI examination of brain with 3 Tesla magnet

19.4

6.4

R41.0

ICD-10 Finland

Disorientation, unspecified

13.6

6.2

SPAT1229

SPAT

Assessment of need for aid

5.0

6.1

Mortality – FinRegistry

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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

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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

Loading data

Cerebral amyloid angiopathy

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints