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Other and unspecified pemphigoid

DOID Endpoint Browser PheWeb

L12_PEMPHIGOID_NAS

bullous pemphigoid: Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

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Endpoint definition

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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 — L12.8, L12.9, L12.9+H13.3
  • Hospital discharge: ICD-9 — 6945
  • Hospital discharge: ICD-8 — 69402
  • Cause of death: ICD-10 — L12.8, L12.9, L12.9+H13.3
  • Cause of death: ICD-9 — 6945
  • Cause of death: ICD-8 — 69402
  • KELA reimbursements: KELA codes — ANY
  • KELA reimbursements: ICD-10 — L12

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

239

4. Check minimum number of events

None

239

5. Include endpoints

None

239

6. Filter based on genotype QC (FinnGen only)

232

Control definitions (FinnGen only)

Control exclude L12_BULLOUS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF6

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2871 1684 1154
Only index persons 2032 1255 777
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.03
Only index persons 0.04 0.05 0.03
Median age at first event (years)
Whole population 75.93 76.22 75.54
Only index persons 75.51 76.02 74.67

-FinnGen-

Key figures

All Female Male
Number of individuals 232 132 100
Unadjusted period prevalence (%) 0.05 0.05 0.05
Median age at first event (years) 72.14 70.58 74.20

-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

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Association

Association between endpoint L12_PEMPHIGOID_NAS and mortality.

Females

Parameter HR [95% CI] p-value
L12_PEMPHIGOID_NAS 1.903 [1.56, 2.32] < 0.001
Birth year 0.991 [0.98, 1.0] 0.044

During the follow-up period (1.1.1998 — 31.12.2019), 546 out of 1148 females with L12_PEMPHIGOID_NAS died.

Males

Parameter HR [95% CI] p-value
L12_PEMPHIGOID_NAS 2.036 [1.5, 2.76] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 407 out of 732 males with L12_PEMPHIGOID_NAS died.

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGOID_NAS.

N-year risk Females Males
1 0.148% 0.367%
5 1.004% 2.224%
10 2.413% 5.341%
15 4.364% 10.53%
20 7.81% 17.358%

Relationships between endpoints

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Index endpoint: L12_PEMPHIGOID_NAS – Other and unspecified pemphigoid

GWS hits: 1

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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