Sarcoidosis

D3_SARCOIDOSIS

obsolete_sarcoidosis: ['An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.', 'An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.']

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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 D86
  • Hospital discharge: ICD-9 135
  • Hospital discharge: ICD-8 135
  • Cause of death: ICD-10 D86
  • Cause of death: ICD-9 135
  • Cause of death: ICD-8 135
  • KELA reimbursements: KELA codes 132

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

5000

4. Check minimum number of events

None

5000

5. Include endpoints

None

5000

6. Filter based on genotype QC (FinnGen only)

4854

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D80-D89
Name in latin Sarcoidosis

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 34942 18933 15788
Only index persons 30759 16617 14142
Unadjusted period prevalence (%)
Whole population 0.49 0.54 0.44
Only index persons 0.58 0.61 0.54
Median age at first event (years)
Whole population 46.39 49.71 42.37
Only index persons 45.23 48.24 41.69

-FinnGen-

Key figures

All Female Male
Number of individuals 4854 2732 2122
Unadjusted period prevalence (%) 1.07 1.07 1.07
Median age at first event (years) 46.67 48.16 44.76

-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

Mortality – FinRegistry

Association

Association between endpoint D3_SARCOIDOSIS and mortality.

Females

Parameter HR [95% CI] p-value
D3_SARCOIDOSIS 1.39 [1.25, 1.54] < 0.001
Birth year 0.998 [0.99, 1.01] 0.711

During the follow-up period (1.1.1998 — 31.12.2019), 1208 out of 9966 females with D3_SARCOIDOSIS died.

Males

Parameter HR [95% CI] p-value
D3_SARCOIDOSIS 1.389 [1.25, 1.54] < 0.001
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 1134 out of 8918 males with D3_SARCOIDOSIS died.

Mortality risk

Mortality risk for people of age

years, who have D3_SARCOIDOSIS.

N-year risk Females Males
1 0.134% 0.329%
5 0.738% 1.766%
10 2.088% 3.93%
15 4.361% 7.144%
20 7.682% 12.149%

Relationships between endpoints

Index endpoint: D3_SARCOIDOSIS – Sarcoidosis

GWS hits: 14

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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