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 |
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. |
97 |
4. Check minimum number of eventsNone |
97 |
5. Include endpointsNone |
97 |
6. Filter based on genotype QC (FinnGen only) |
97 |
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 | 97 | 62 | 35 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 63.45 | 62.78 | 64.63 |
-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
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
- 89
- Matched controls
- 890
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
K74.5
ICD-10 Finland
Biliary cirrhosis, unspecified
+∞
128.1
89
*
A05AA02
ATC
ursodeoxycholic acid; oral
256.0
61.2
57
6
K74.3
ICD-10 Finland
Primary biliary cirrhosis
460.4
50.6
46
*
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
65.5
32.0
36
9
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
+∞
28.7
26
*
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
16.1
27.5
51
68
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.9
18.3
59
176
I85.9
ICD-10 Finland
Oesophageal varices without bleeding
222.0
18.2
18
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
11.2
17.9
37
53
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
10.3
15.6
33
48
C03CA01
ATC
furosemide; systemic
5.4
12.7
53
189
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
68.3
10.9
12
*
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
68.3
10.9
12
*
I85.0
ICD-10 Finland
Oesophageal varices with bleeding
111.1
9.6
10
*
K92.1
ICD-10 Finland
Melaena
13.6
9.5
16
14
K76.9
ICD-10 Finland
Liver disease, unspecified
30.9
8.7
11
*
R18
ICD-10 Finland
Ascites
30.9
8.7
11
*
A07EA06
ATC
budesonide; oral, local oral
12.6
8.7
15
14
M34.1
ICD-10 Finland
CR(E)ST syndrome
+∞
8.5
8
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.6
7.8
50
232
JCA22
NOMESCO Finland
Endoscopic ligature of oesophageal varices
86.8
7.5
8
*
K73.9
ICD-10 Finland
Chronic hepatitis, unspecified
86.8
7.5
8
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
6.8
7.2
18
32
UJF32
NOMESCO Finland
Coloscopy
3.5
7.0
40
166
JN1CG
NOMESCO Finland
Extensive MRI examination of upper part of abdomen with high intensity magnet
12.4
7.0
12
11
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.3
6.9
54
280
K73.2
ICD-10 Finland
Chronic active hepatitis, not elsewhere classified
43.4
6.9
8
*
C10AC01
ATC
colestyramine; oral
13.7
6.8
11
9
C03DA01
ATC
spironolactone; oral
4.4
6.7
25
72
TJJ00
NOMESCO Finland
Percutaneous needle biopsy of liver
74.8
6.5
7
*
L04AA06
ATC
mycophenolic acid; systemic
74.8
6.5
7
*
K83.0
ICD-10 Finland
Cholangitis
19.7
6.4
9
5
5716A
ICD-9 Finland
Chronic liver disease and cirrhosis, Biliary cirrhosis[CIRRHOSIS BILIARIS PRIMARIA]
+∞
6.3
6
*
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
+∞
6.3
6
*
ZX120
NOMESCO Finland
Intravenous
4.9
6.2
20
49
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
25
14
23.71
31.88
4.1
2.1
11.4
267.6
u/ml
0.46
25
14
17
11
18.53
19.84
1.5
1.1
—
—
—
0
0
12
9
14.99
7.61
2.0
1.7
—
—
—
0
0
13
22
6.67
7.60
2.5
1.5
—
—
—
0
0
74
450
3.72
7.44
13.5
6.4
1.2
1.2
mmol/l
0.82
57
368
13
23
6.37
7.28
2.0
1.7
—
—
—
0
0
46
215
3.17
7.16
3.5
2.2
4.5
3.2
mg/l
1.20
40
187
11
20
6.08
5.95
7.0
3.7
194.3
200.1
%
0.07
11
20
67
422
2.90
5.61
12.5
5.5
1.2
1.2
mmol/l
0.98
60
381
72
476
2.99
5.41
14.1
9.5
4.3
4.2
e9/l
0.04
66
410
9
11
8.88
4.67
2.1
2.2
—
—
—
0
0
28
126
2.72
4.37
1.6
1.9
—
—
—
0
0
33
163
2.55
4.27
10.5
3.4
0.8
0.8
mmol/l
0.88
33
153
21
83
2.95
4.14
1.5
1.8
—
—
—
0
0
27
123
2.66
4.09
11.7
5.0
1.1
1.0
mmol/l
0.51
27
112
21
86
2.84
3.87
1.7
1.9
—
—
—
0
0
8
13
6.59
3.58
1.1
1.3
—
—
—
0
0
6
6
10.54
3.54
1.0
1.0
—
—
—
0
0
36
201
2.26
3.46
4.0
2.4
—
—
—
0
0
24
113
2.49
3.36
4.0
4.8
3.0
11.0
ug/l
1.35
18
95
15
57
2.93
3.13
3.6
1.7
—
—
—
0
0
7
12
6.19
3.08
1.0
1.4
—
—
—
0
0
5
5
10.44
3.01
3.0
2.0
0.7
0.9
g/l
—
5
5
8
17
5.03
2.99
1.1
1.5
—
—
—
0
0
5
6
8.69
2.78
2.2
1.7
—
—
—
0
0
8
19
4.49
2.74
2.6
1.4
—
—
—
0
0
55
388
1.96
2.68
10.0
4.1
—
—
—
0
0
12
44
2.97
2.66
6.3
4.2
1.1
1.5
mmol/l
—
7
32
32
188
2.05
2.61
2.3
1.7
1243.6
1190.0
nmol/l
0.12
24
136
8
21
4.05
2.52
1.4
1.7
—
—
—
0
0
47
321
1.90
2.46
4.1
3.5
2.3
2.4
mmol/l
1.18
41
273
8
22
3.86
2.42
1.1
1.5
—
—
—
0
0
8
22
3.86
2.42
1.1
1.5
—
—
—
0
0
21
112
2.12
2.17
6.8
5.5
-1.0
1.4
mmol/l
1.15
15
93
50
361
1.79
2.10
4.3
4.0
28.7
36.1
ng/l
0.41
42
275
6
15
4.19
2.07
1.7
1.2
—
—
—
0
0
38
259
1.77
1.90
4.7
3.0
0.6
0.5
e6/l
0.09
29
196
10
41
2.60
1.82
1.5
1.9
—
—
—
0
0
19
105
2.01
1.79
5.7
4.0
—
—
—
0
0
6
19
3.29
1.69
1.5
1.1
—
—
—
0
0
5
14
3.70
1.63
1.0
1.1
—
—
—
0
0
43
315
1.66
1.61
5.1
3.2
—
—
—
0
0
6
20
3.13
1.61
1.2
1.1
—
—
—
0
0
10
44
2.42
1.59
1.2
1.3
8.6
8.0
g/l
—
5
34
10
44
2.42
1.59
1.2
1.3
—
—
—
0
0
7
27
2.71
1.54
1.1
1.2
—
—
—
0
0
6
22
2.84
1.46
3.8
2.1
21.8
22.4
mmol/l
—
6
17
9
42
2.26
1.38
2.0
2.4
1.1
1.4
%
—
9
42
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
6
25
2.49
1.26
5.8
2.4
0.2
0.4
u/ml
—
6
15
7
32
2.28
1.10
4.3
2.1
—
—
—
0
0
31
229
1.52
1.05
6.1
4.3
0.0
0.0
estimate
0.00
14
80
22
150
1.60
1.05
3.3
2.7
0.9
1.0
e6/l
0.02
12
85
5
22
2.34
1.04
1.4
1.6
—
—
—
0
0
50
413
1.43
0.95
6.5
5.6
0.0
0.0
estimate
0.00
12
80
6
28
2.22
0.93
1.5
2.0
—
—
—
0
0
6
29
2.14
0.91
1.5
2.2
—
—
—
0
0
11
64
1.81
0.90
24.2
4.0
23.1
24.6
mmol/l
0.54
11
64
24
176
1.48
0.83
1.5
1.2
0.9
0.7
u/ml
—
7
47
49
413
1.38
0.79
5.6
4.1
0.0
0.0
estimate
0.00
15
83
20
143
1.50
0.78
3.4
3.0
2.3
3.6
e6/l
—
9
78
43
359
1.36
0.72
2.4
2.0
85.9
100.7
pmol/l
1.33
24
156
23
180
1.36
0.56
2.0
3.1
2.5
2.5
mmol/l
1.19
17
156
48
419
1.29
0.55
6.0
4.1
0.0
0.0
estimate
0.00
14
73
0
16
0.00
0.41
0.0
3.9
—
86.0
—
0
16
14
108
1.35
0.38
1.6
1.5
—
—
—
0
0
37
326
1.22
0.37
5.9
4.2
—
—
—
0
0
64
606
1.16
0.25
4.1
4.2
15.1
14.9
pmol/l
0.24
57
537
5
37
1.37
0.24
3.4
4.1
30.3
48.3
%
—
5
37
0
11
0.00
0.21
0.0
1.1
—
37.2
—
0
5
0
11
0.00
0.21
0.0
1.0
—
568.8
—
0
5
0
12
0.00
0.21
0.0
3.1
—
—
—
0
0
31
281
1.15
0.21
1.7
2.0
79.3
165.9
u/l
4.20
31
263
6
47
1.29
0.21
1.2
1.2
—
161.4
—
0
14
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
12
103
1.19
0.14
1.2
1.3
—
—
—
0
0
77
749
1.14
0.14
4.8
5.0
2.4
1.9
mu/l
0.58
70
661
78
763
1.11
0.10
36.8
15.8
70.8
76.8
ml/min/173m2
1.41
64
622
44
421
1.08
0.10
2.7
2.7
—
—
—
0
0
5
44
1.14
0.10
1.2
1.8
—
—
—
0
0
80
786
1.10
0.08
4.7
4.8
1.4
1.5
mmol/l
1.55
72
698
10
110
0.90
0.05
12.8
7.0
—
—
—
0
0
80
789
1.08
0.05
4.9
4.9
4.2
4.6
mmol/l
2.89
72
707
78
791
0.93
0.05
5.4
5.0
6.3
6.0
mmol/l
0.96
67
709
77
772
0.99
0.00
7.4
6.2
41.0
40.5
mmol/mol
0.14
71
707
76
755
1.03
0.00
4.6
4.3
1.2
1.2
mmol/l
0.05
68
664
17
174
0.97
0.00
2.6
4.7
32.2
21.6
%
—
6
88
81
809
1.01
0.00
5.1
5.5
2.3
2.7
mmol/l
3.62
73
720
0
9
0.00
0.00
0.0
1.7
—
236.1
—
0
9
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
5
52
0.96
0.00
2.4
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
23.2
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
100.8
—
0
6
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
82.5
—
0
5
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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