ILD-related respiratory insufficiency

ILD_INSUFFICIENCY

respiratory failure: The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. [NCIT:C26872]

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

  • ILD_ENDPOINTS
5266

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

952

6. Filter based on genotype QC (FinnGen only)

917

Control definitions (FinnGen only)

Control conditions not ILD_ENDPOINTS

Extra metadata

First used in FinnGen datafreeze DF2

Case counts by codes

FinnGen case counts by registry codes:

No data for upset plot.

No data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 5976 2346 3557
Only index persons 4503 1795 2708
Unadjusted period prevalence (%)
Whole population 0.09 0.07 0.10
Only index persons 0.09 0.07 0.10
Median age at first event (years)
Whole population 74.06 75.07 73.40
Only index persons 74.56 75.67 73.83

-FinnGen-

Key figures

All Female Male
Number of individuals 917 318 599
Unadjusted period prevalence (%) 0.24 0.12 0.30
Median age at first event (years) 72.21 69.97 73.40

-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 ILD_INSUFFICIENCY and mortality.

Females

Parameter HR [95% CI] p-value
ILD_INSUFFICIENCY 8.21 [6.16, 10.94] < 0.001
Birth year 0.996 [0.99, 1.0] 0.326

During the follow-up period (1.1.1998 — 31.12.2019), 1133 out of 1651 females with ILD_INSUFFICIENCY died.

Males

Parameter HR [95% CI] p-value
ILD_INSUFFICIENCY 7.529 [5.54, 10.23] < 0.001
Birth year 0.988 [0.98, 1.0] 0.007

During the follow-up period (1.1.1998 — 31.12.2019), 1687 out of 2465 males with ILD_INSUFFICIENCY died.

Mortality risk

Mortality risk for people of age

years, who have ILD_INSUFFICIENCY.

N-year risk Females Males
1 0.882% 1.479%
5 5.567% 7.869%
10 12.156% 19.449%
15 22.803% 33.892%
20 37.258% 52.12%

Relationships between endpoints

Index endpoint: ILD_INSUFFICIENCY – ILD-related respiratory insufficiency

GWS hits: 4

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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