Thromboangiitis obliterans

I9_THROMBANG

thromboangiitis obliterans: Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.

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Endpoint definition

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 I73.1
  • Hospital discharge: ICD-9 4431A
  • Hospital discharge: ICD-8 44310
  • Cause of death: ICD-10 I73.1
  • Cause of death: ICD-9 4431A
  • Cause of death: ICD-8 44310

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

136

4. Check minimum number of events

None

136

5. Include endpoints

None

136

6. Filter based on genotype QC (FinnGen only)

136

Control definitions (FinnGen only)

Control exclude
I9_DOAAC

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
I73
Name in latin
Tromboangi(i)tis obliterans (Bürger)

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 1319 389 900
Only index persons 869 322 547
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.03
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 52.80 53.06 52.44
Only index persons 51.00 51.70 50.59

-FinnGen-

Key figures

All Female Male
Number of individuals 136 49 87
Unadjusted period prevalence (%) 0.03 0.02 0.04
Median age at first event (years) 49.49 46.58 51.13

-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
120
Matched controls
1198
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
I73.1
ICD-10 Finland
Thromboangiitis obliterans [Buerger]
+∞
102.2
83
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
210.9
51.5
50
*
44310
ICD-8 Finland
Other peripheral vascular disease, Thrombo-angiitis obliterans (Buerger's disease)
+∞
35.1
32
*
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
32.8
23.1
30
12
4431A
ICD-9 Finland
Other peripheral vascular disease, Thromboangiitis obliterans [Buerger's disease]
+∞
21.5
20
*
4402A
ICD-9 Finland
Atherosclerosis, Of native arteries of the extremities
+∞
13.8
13
*
C08CA05
ATC
nifedipine; systemic
7.6
12.4
30
50
2424
FHL
Sympatectomy, lumbar
+∞
10.6
10
*
I71.4
ICD-10 Finland
Abdominal aortic aneurysm, without mention of rupture
60.0
9.8
11
*
I70.9
ICD-10 Finland
Generalized and unspecified atherosclerosis
+∞
8.4
8
*
I71.3
ICD-10 Finland
Abdominal aortic aneurysm, ruptured
+∞
8.4
8
*
I73.0
ICD-10 Finland
Raynaud syndrome
36.0
8.2
10
*
PD4BC
NOMESCO Finland
Extensive arterigography of lower extremity with X-ray
+∞
7.4
7
*
I73.9
ICD-10 Finland
Peripheral vascular disease, unspecified
+∞
7.4
7
*
PE1AT
NOMESCO Finland
Femoral artery PTA
+∞
7.4
7
*
I73.8
ICD-10 Finland
Other specified peripheral vascular diseases
+∞
7.4
7
*
9571
FHL
Amputation of toe or toes
+∞
7.4
7
*
J01FF01
ATC
clindamycin; systemic
3.2
6.8
41
168
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
8.2
6.6
14
19
9573
FHL
Leg amputation
+∞
6.3
6
*
2423
FHL
Sympatectomy, thoracic
+∞
6.3
6
*
PD4AC
NOMESCO Finland
Arterigography of lower extremity with X-ray
+∞
6.3
6
*

Mortality – FinRegistry

Association

Association between endpoint I9_THROMBANG and mortality.

Females

Parameter HR [95% CI] p-value
I9_THROMBANG 2.288 [1.72, 3.04] < 0.001
Birth year 0.996 [0.99, 1.0] 0.357

During the follow-up period (1.1.1998 — 31.12.2019), 81 out of 256 females with I9_THROMBANG died.

Males

Parameter HR [95% CI] p-value
I9_THROMBANG 1.982 [1.58, 2.48] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 146 out of 390 males with I9_THROMBANG died.

Mortality risk

Mortality risk for people of age

years, who have I9_THROMBANG.

N-year risk Females Males
1 0.265% 0.289%
5 1.479% 2.21%
10 3.389% 5.427%
15 6.828% 9.841%
20 11.912% 16.326%

Relationships between endpoints

Index endpoint: I9_THROMBANG – Thromboangiitis obliterans

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
FinnGen
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