Aortic arch syndrome [Takayasu]

M13_TAKAYASU

Takayasu arteritis: Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

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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 — M31.4 Hospital discharge: ICD-9 — 4467 Cause of death: ICD-10 — M31.4 Cause of death: ICD-9 — 4467 2 out of 7 registries used, show all original rules.	69
4. Check minimum number of events None	69
5. Include endpoints None	69
6. Filter based on genotype QC (FinnGen only)	69

Control definitions (FinnGen only)

Control exclude: M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: M31
Name in latin: Syndroma arcus aortae

NAME	M13_TAKAYASU
CONTROL_EXCLUDE	M13_SYSTCONNECT
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M314
HD_ICD_9	4467
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	M314
COD_ICD_9	4467
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 Aortic arch syndrome [Takayasu] 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	358	271	81
Only index persons	287	221	66
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	55.89	56.33	53.98
Only index persons	54.26	55.37	50.54

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	69	53	16
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	48.35	49.08	45.93

-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

No data

-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
58: Matched controls
578

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M31.4

ICD-10 Finland

Aortic arch syndrome [Takayasu]

+∞

80.4

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

30.8

24.8

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

24.2

20.7

H02AB06

ATC

prednisolone; systemic

13.3

15.3

185

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

8.1

12.5

124

GD1AA

NOMESCO Finland

Thorax X-ray examination

7.3

11.4

143

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

16.8

11.3

L04AX01

ATC

azathioprine; systemic

17.9

9.3

PAW37

NOMESCO Finland

Biopsy of temporal artery

+∞

8.5

M31.5

ICD-10 Finland

Giant cell arteritis with polymyalgia rheumatica

+∞

8.5

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

9.5

8.2

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

7.7

8.2

R70.0

ICD-10 Finland

Elevated erythrocyte sedimentation rate

22.1

8.0

M35.3

ICD-10 Finland

Polymyalgia rheumatica

29.6

7.9

M34.1

ICD-10 Finland

CR(E)ST syndrome

+∞

7.4

PD5CG

NOMESCO Finland

Extensive MRI examination of thoracal and abdominal aortta with high intensity magnet

+∞

7.4

4467A

ICD-9 Finland

Polyarteritis nodosa and allied conditions, Takayasu's disease

+∞

7.4

ZX120

NOMESCO Finland

Intravenous

8.8

7.1

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

10.8

7.0

M05BA04

ATC

alendronic acid; oral

9.3

6.9

TPH04

NOMESCO Finland

Cathetrisation of vein

5.0

6.7

I77.6

ICD-10 Finland

Arteritis, unspecified

78.1

6.6

Mortality – FinRegistry

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Association

Association between endpoint M13_TAKAYASU and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_TAKAYASU.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

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Index endpoint: M13_TAKAYASU – Aortic arch syndrome [Takayasu]

GWS hits: -

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

Aortic arch syndrome [Takayasu]

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