Cystic fibrosis

E4_CYSTFIBRO

obsolete_cystic fibrosis: ['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']

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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 E84
  • Cause of death: ICD-10 E84

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

62

4. Check minimum number of events

None

62

5. Include endpoints

79

6. Filter based on genotype QC (FinnGen only)

76

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E70-E90
Name in latin Fibrosis cystica

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 672 324 341
Only index persons 504 255 249
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 51.06 55.29 46.77
Only index persons 51.08 55.07 46.99

-FinnGen-

Key figures

All Female Male
Number of individuals 76 41 35
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 30.04 33.91 25.51

-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 E4_CYSTFIBRO and mortality.

Females

Parameter HR [95% CI] p-value
E4_CYSTFIBRO 1.906 [1.37, 2.65] < 0.001
Birth year 0.991 [0.98, 1.0] 0.052

During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 217 females with E4_CYSTFIBRO died.

Males

Parameter HR [95% CI] p-value
E4_CYSTFIBRO 3.247 [2.14, 4.92] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 225 males with E4_CYSTFIBRO died.

Mortality risk

Mortality risk for people of age

years, who have E4_CYSTFIBRO.

N-year risk Females Males
1 0.193% 0.647%
5 1.046% 3.558%
10 2.484% 9.085%
15 4.779% 17.249%
20 8.026% 28.099%

Relationships between endpoints

Index endpoint: E4_CYSTFIBRO – Cystic fibrosis

GWS hits: 5

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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