pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.
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:
3 out of 7 registries used, show all original rules. |
102 |
4. Check minimum number of eventsNone |
102 |
5. Include endpointsNone |
102 |
6. Filter based on genotype QC (FinnGen only) |
97 |
Control definitions (FinnGen only)
Control exclude
L12_BULLOUS
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified pemphigus
based on the number of shared cases.
Similar with more cases:
- Pemphigus
- Bullous disorders
- Diseases of the skin and subcutaneous tissue
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 947 | 511 | 427 |
| Only index persons | 754 | 416 | 338 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 62.24 | 64.49 | 59.23 |
| Only index persons | 60.83 | 62.22 | 59.12 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 97 | 47 | 50 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 56.65 | 50.67 | 62.27 |
-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 L12_PEMPHIGUS_NAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS_NAS | 1.776 [1.31, 2.42] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.151 |
During the follow-up period (1.1.1998 — 31.12.2019), 128 out of 395 females with L12_PEMPHIGUS_NAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS_NAS | 2.465 [1.66, 3.65] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.015 |
During the follow-up period (1.1.1998 — 31.12.2019), 119 out of 329 males with L12_PEMPHIGUS_NAS died.
Mortality risk
Mortality risk for people of age
years, who have L12_PEMPHIGUS_NAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.127% | 0.394% |
| 5 | 0.996% | 2.721% |
| 10 | 2.44% | 6.725% |
| 15 | 4.76% | 12.756% |
| 20 | 7.928% | 21.022% |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIGUS_NAS – Other and unspecified pemphigus
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
Loading data