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

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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.

120

4. Check minimum number of events

None

120

5. Include endpoints

None

120

6. Filter based on genotype QC (FinnGen only)

115

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 115 41 74
Unadjusted period prevalence (%) 0.03 0.02 0.04
Median age at first event (years) 49.48 46.58 51.09

-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_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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