Early onset COPD

COPD_EARLY

chronic obstructive pulmonary disease: A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.

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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

Pre-conditions: EVENT_AGE<65

Registry filters:

  • Hospital discharge: ICD-10 J44
  • Hospital discharge: ICD-9 4912
  • Hospital discharge: ICD-8 49104
  • Cause of death: ICD-10 J44
  • Cause of death: ICD-9 4912
  • Cause of death: ICD-8 49104

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

8555

4. Check minimum number of events

None

8555

5. Include endpoints

None

8555

6. Filter based on genotype QC (FinnGen only)

8266

Control definitions (FinnGen only)

Control exclude COPD_EARLYANDLATER

Extra metadata

First used in FinnGen datafreeze DF2
Parent code in ICD-10 J40-J47
Name in latin Alii morbi obstructivi chronici pulmonum

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 81002 25780 53894
Only index persons 60251 21696 38555
Unadjusted period prevalence (%)
Whole population 1.26 0.74 1.51
Only index persons 1.23 0.80 1.47
Median age at first event (years)
Whole population 57.10 56.55 57.32
Only index persons 56.50 56.17 56.69

-FinnGen-

Key figures

All Female Male
Number of individuals 8266 3066 5200
Unadjusted period prevalence (%) 2.09 1.20 2.61
Median age at first event (years) 57.20 55.70 58.09

-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 COPD_EARLY and mortality.

Females

Parameter HR [95% CI] p-value
COPD_EARLY 5.788 [5.33, 6.28] < 0.001
Birth year 0.99 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 5790 out of 19608 females with COPD_EARLY died.

Males

Parameter HR [95% CI] p-value
COPD_EARLY 4.076 [3.78, 4.4] < 0.001
Birth year 0.988 [0.98, 1.0] 0.01

During the follow-up period (1.1.1998 — 31.12.2019), 14125 out of 35925 males with COPD_EARLY died.

Mortality risk

Mortality risk for people of age

years, who have COPD_EARLY.

N-year risk Females Males
1 0.467% 0.687%
5 2.872% 4.076%
10 6.558% 10.345%
15 12.484% 19.555%
20 21.139% 31.398%

Relationships between endpoints

Index endpoint: COPD_EARLY – Early onset COPD

GWS hits: 6

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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