Congenital malformations of gallbladder, bile ducts and liver

Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER

Endpoint definition

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 Q44
  • Cause of death: ICD-10 Q44

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

279

4. Check minimum number of events

None

279

5. Include endpoints

None

279

6. Filter based on genotype QC (FinnGen only)

269

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q3[8-9]|Q4[0-5]
Name in latin Malformationes congenitae vesicae biliaris, ductuum biliarium et hepatis

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 1971 1312 646
Only index persons 1660 1143 517
Unadjusted period prevalence (%)
Whole population 0.03 0.04 0.02
Only index persons 0.04 0.04 0.02
Median age at first event (years)
Whole population 55.99 55.62 56.39
Only index persons 56.48 55.83 57.89

-FinnGen-

Key figures

All Female Male
Number of individuals 269 190 79
Unadjusted period prevalence (%) 0.06 0.07 0.04
Median age at first event (years) 51.76 49.63 56.89

-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 Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER 1.328 [1.1, 1.6] 0.003
Birth year 1.002 [0.99, 1.01] 0.663

During the follow-up period (1.1.1998 — 31.12.2019), 200 out of 1032 females with Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER 1.368 [1.01, 1.86] 0.044
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 130 out of 506 males with Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER.

N-year risk Females Males
1 0.181% 0.232%
5 1.032% 1.42%
10 2.439% 3.794%
15 4.731% 7.375%
20 8.411% 12.237%

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_GALLB_BILE_DUCTS_LIVER – Congenital malformations of gallbladder, bile ducts and liver

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
loading spinner Loading data