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Cholangitis (primary sclerosing, PSC)

DOID EFO Endpoint Browser PheWeb

K11_CHOLANGI

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

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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.

2140

4. Check minimum number of events

None

2140

5. Include endpoints

None

2140

6. Filter based on genotype QC (FinnGen only)

2068

Control definitions (FinnGen only)

Control exclude K11_GALLBILPANC

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 K83
Name in latin Cholangitis

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 17623 8929 8513
Only index persons 14119 7308 6811
Unadjusted period prevalence (%)
Whole population 0.25 0.26 0.24
Only index persons 0.26 0.27 0.26
Median age at first event (years)
Whole population 69.88 71.11 68.55
Only index persons 69.40 70.72 67.98

-FinnGen-

Key figures

All Female Male
Number of individuals 2068 983 1085
Unadjusted period prevalence (%) 0.47 0.39 0.54
Median age at first event (years) 62.63 58.77 66.13

-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

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Association

Association between endpoint K11_CHOLANGI and mortality.

Females

Parameter HR [95% CI] p-value
K11_CHOLANGI 2.458 [2.14, 2.83] < 0.001
Birth year 0.992 [0.98, 1.0] 0.054

During the follow-up period (1.1.1998 — 31.12.2019), 2720 out of 6016 females with K11_CHOLANGI died.

Males

Parameter HR [95% CI] p-value
K11_CHOLANGI 2.52 [2.17, 2.93] < 0.001
Birth year 0.987 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 2735 out of 5897 males with K11_CHOLANGI died.

Mortality risk

Mortality risk for people of age

years, who have K11_CHOLANGI.

N-year risk Females Males
1 0.165% 0.495%
5 1.088% 2.92%
10 3.025% 7.448%
15 5.777% 13.209%
20 9.879% 21.994%

Relationships between endpoints

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Index endpoint: K11_CHOLANGI – Cholangitis (primary sclerosing, PSC)

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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