mucous membrane pemphigoid: Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
70 |
4. Check minimum number of eventsNone |
70 |
5. Include endpointsNone |
70 |
6. Filter based on genotype QC (FinnGen only) |
70 |
Control definitions (FinnGen only)
- Control exclude
- L12_BULLOUS
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- L12
- Name in latin
- Pemphigoides cicatricalis
Similar endpoints
↥List of similar endpoints to
Cicatricial pemphigoid
based on the number of shared cases.
Similar with more cases:
- Pemphigoid
- Bullous disorders
- Autoimmune diseases
- Used for control exclusion in common control thyroid runs
- Diseases of the skin and subcutaneous tissue
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 410 | 265 | 143 |
| Only index persons | 375 | 247 | 128 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.00 |
| Only index persons | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 68.93 | 68.40 | 69.73 |
| Only index persons | 67.68 | 66.93 | 69.13 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 70 | 50 | 20 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 64.21 | 61.81 | 70.22 |
-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
No data
-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
- 64
- Matched controls
- 641
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L12.1
ICD-10 Finland
Cicatricial pemphigoid
+∞
91.9
64
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
38.5
33
*
ECA20
NOMESCO Finland
Biopsy of gingiva
142.2
19.8
20
*
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
15.2
14
*
J04BA02
ATC
dapsone; oral
+∞
15.2
14
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
12.2
14.3
28
38
D07AD01
ATC
clobetasol; topical
9.4
13.7
33
65
H02AB06
ATC
prednisolone; systemic
9.8
13.6
54
227
L04AX01
ATC
azathioprine; systemic
16.5
12.4
20
17
L12.8
ICD-10 Finland
Other pemphigoid
+∞
10.7
10
*
SBB00
NOMESCO Finland
Fotograf of mouth and teeth
19.1
10.1
15
10
D07AC01
ATC
betamethasone; topical
5.8
10.1
42
158
EKA10
NOMESCO Finland
Biopsy of cheek
36.2
9.8
12
*
135
Kela drug reimbursment
Pemphigus
+∞
8.5
8
*
K13.79
ICD-10 Finland
Change in the oral mucosa UNS
20.6
8.4
12
7
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.7
6.0
39
188
Mortality – FinRegistry
↥Association
Association between endpoint L12_PEMPHIGOID_CICA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGOID_CICA | 1.164 [0.85, 1.6] | 0.353 |
| Birth year | 0.997 [0.99, 1.01] | 0.51 |
During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 250 females with L12_PEMPHIGOID_CICA died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have L12_PEMPHIGOID_CICA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.123% | No data |
| 5 | 0.767% | No data |
| 10 | 1.93% | No data |
| 15 | 3.849% | No data |
| 20 | 6.67% | No data |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIGOID_CICA – Cicatricial pemphigoid
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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