vesiculobullous skin disease: Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
1736 |
4. Check minimum number of eventsNone |
1736 |
5. Include endpoints |
1885 |
6. Filter based on genotype QC (FinnGen only) |
1834 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF2
Bullous disorders
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 17606 | 9615 | 7867 |
| Only index persons | 14671 | 8199 | 6472 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.25 | 0.28 | 0.22 |
| Only index persons | 0.28 | 0.30 | 0.25 |
| Median age at first event (years) | |||
| Whole population | 66.48 | 67.70 | 64.95 |
| Only index persons | 64.83 | 65.56 | 63.91 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1834 | 982 | 852 |
| Unadjusted period prevalence (%) | 0.41 | 0.39 | 0.43 |
| Median age at first event (years) | 61.11 | 56.79 | 66.08 |
-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 L12_BULLOUS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_BULLOUS | 1.614 [1.43, 1.82] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.267 |
During the follow-up period (1.1.1998 — 31.12.2019), 2522 out of 7359 females with L12_BULLOUS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_BULLOUS | 1.855 [1.6, 2.15] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 2107 out of 5767 males with L12_BULLOUS died.
Mortality risk
Mortality risk for people of age
years, who have L12_BULLOUS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.124% | 0.413% |
| 5 | 0.867% | 2.001% |
| 10 | 2.293% | 4.857% |
| 15 | 4.463% | 8.924% |
| 20 | 7.786% | 14.77% |
Relationships between endpoints
↥Index endpoint: L12_BULLOUS – Bullous disorders
GWS hits: 2
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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