Cholangitis (primary sclerosing, PSC), with reimbursement 202

K11_CHOLANGI_STRICT

sclerosing cholangitis: A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

  • K11_REIMB_202
26974

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

Registry filters:

  • Hospital discharge: ICD-10 K83.0
  • Hospital discharge: ICD-9 5761
  • Hospital discharge: ICD-8 5750[4-5]
  • Cause of death: ICD-10 K83.0
  • Cause of death: ICD-9 5761
  • Cause of death: ICD-8 5750[4-5]

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

602

4. Check minimum number of events

None

602

5. Include endpoints

None

602

6. Filter based on genotype QC (FinnGen only)

585

Control definitions (FinnGen only)

Control exclude K11_IBD_STRICT_PSC
Control conditions not K11_REIMB_202

Extra metadata

First used in FinnGen datafreeze DF3
Parent code in ICD-10 K83
Name in latin Cholangitis

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 2699 1491 1192
Only index persons 2473 1364 1109
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.03
Only index persons 0.05 0.05 0.04
Median age at first event (years)
Whole population 52.12 57.80 44.91
Only index persons 50.38 56.59 42.74

-FinnGen-

Key figures

All Female Male
Number of individuals 585 325 260
Unadjusted period prevalence (%) 0.13 0.13 0.13
Median age at first event (years) 44.98 48.72 40.30

-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

Mortality – FinRegistry

Association

Association between endpoint K11_CHOLANGI_STRICT and mortality.

Females

Parameter HR [95% CI] p-value
K11_CHOLANGI_STRICT 2.908 [2.29, 3.7] < 0.001
Birth year 0.997 [0.99, 1.01] 0.435

During the follow-up period (1.1.1998 — 31.12.2019), 280 out of 1127 females with K11_CHOLANGI_STRICT died.

Males

Parameter HR [95% CI] p-value
K11_CHOLANGI_STRICT 2.237 [1.71, 2.93] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 180 out of 971 males with K11_CHOLANGI_STRICT died.

Mortality risk

Mortality risk for people of age

years, who have K11_CHOLANGI_STRICT.

N-year risk Females Males
1 0.293% 0.479%
5 1.856% 2.601%
10 4.805% 6.542%
15 8.555% 12.088%
20 14.957% 19.247%

Relationships between endpoints

Index endpoint: K11_CHOLANGI_STRICT – Cholangitis (primary sclerosing, PSC), with reimbursement 202

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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