primary biliary cirrhosis: Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.
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. |
717 |
4. Check minimum number of eventsNone |
717 |
5. Include endpointsNone |
717 |
6. Filter based on genotype QC (FinnGen only) |
691 |
Control definitions (FinnGen only)
Control exclude
AUTOIMMUNE
Extra metadata
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
K74
Name in latin
Cirrhosis biliaris [primaria]
Similar endpoints
↥List of similar endpoints to
Primary biliary cholangitis (PBC)
based on the number of shared cases.
Similar with more cases:
- Fibrosis and cirrhosis of liver
- Diseases of liver
- Autoimmune diseases
- Used for control exclusion in common control thyroid runs
- Gastrointestinal diseases
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4570 | 3617 | 916 |
| Only index persons | 3977 | 3212 | 765 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.09 | 0.10 | 0.03 |
| Only index persons | 0.10 | 0.12 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 60.86 | 60.40 | 62.52 |
| Only index persons | 59.55 | 59.08 | 61.56 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 691 | 572 | 119 |
| Unadjusted period prevalence (%) | 0.20 | 0.22 | 0.06 |
| Median age at first event (years) | 57.28 | 56.32 | 61.92 |
-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 CHIRBIL_PRIM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CHIRBIL_PRIM | 2.18 [1.95, 2.44] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.801 |
During the follow-up period (1.1.1998 — 31.12.2019), 822 out of 3020 females with CHIRBIL_PRIM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CHIRBIL_PRIM | 2.489 [2.04, 3.04] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 293 out of 744 males with CHIRBIL_PRIM died.
Mortality risk
Mortality risk for people of age
years, who have CHIRBIL_PRIM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.199% | 0.429% |
| 5 | 1.305% | 2.574% |
| 10 | 3.684% | 6.805% |
| 15 | 7.08% | 12.789% |
| 20 | 12.048% | 21.548% |
Relationships between endpoints
↥Index endpoint: CHIRBIL_PRIM – Primary biliary cholangitis (PBC)
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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