Biliary cirrhosis, NAS

CHIRBIL_NAS

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.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 K74.5
  • Cause of death: ICD-10 K74.5

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

97

4. Check minimum number of events

None

97

5. Include endpoints

None

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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

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
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
68.3
10.9
12
*
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
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
L04AA06
ATC
mycophenolic acid; systemic
74.8
6.5
7
*
TJJ00
NOMESCO Finland
Percutaneous needle biopsy of liver
74.8
6.5
7
*
K83.0
ICD-10 Finland
Cholangitis
19.7
6.4
9
5
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
+∞
6.3
6
*
5716A
ICD-9 Finland
Chronic liver disease and cirrhosis, Biliary cirrhosis[CIRRHOSIS BILIARIS PRIMARIA]
+∞
6.3
6
*
ZX120
NOMESCO Finland
Intravenous
4.9
6.2
20
49

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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