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. |
89 |
4. Check minimum number of eventsNone |
89 |
5. Include endpointsNone |
89 |
6. Filter based on genotype QC (FinnGen only) |
84 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
K74
Name in latin
Cirrhosis biliaris non specificata
Similar endpoints
↥List of similar endpoints to
Biliary cirrhosis, NAS
based on the number of shared cases.
Similar with more cases:
- Fibrosis and cirrhosis of liver
- Diseases of liver
- Gastrointestinal diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 740 | 440 | 291 |
| Only index persons | 591 | 365 | 226 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 66.30 | 67.90 | 64.08 |
| Only index persons | 65.48 | 66.47 | 63.90 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 84 | 54 | 30 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 64.13 | 63.98 | 64.39 |
-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_NAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CHIRBIL_NAS | 4.689 [3.16, 6.97] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.134 |
During the follow-up period (1.1.1998 — 31.12.2019), 149 out of 349 females with CHIRBIL_NAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CHIRBIL_NAS | 5.621 [3.23, 9.79] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.01 |
During the follow-up period (1.1.1998 — 31.12.2019), 120 out of 207 males with CHIRBIL_NAS died.
Mortality risk
Mortality risk for people of age
years, who have CHIRBIL_NAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.314% | 1.206% |
| 5 | 2.226% | 6.182% |
| 10 | 6.182% | 15.232% |
| 15 | 11.143% | 27.835% |
| 20 | 19.285% | 44.691% |
Relationships between endpoints
↥Index endpoint: CHIRBIL_NAS – Biliary cirrhosis, NAS
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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