Extreme obesity with alveolar hypoventilation

E4_OBESITYXTRMALV

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 E66.2
  • Hospital discharge: ICD-9 2788A
  • Cause of death: ICD-10 E66.2
  • Cause of death: ICD-9 2788A

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

1326

4. Check minimum number of events

None

1326

5. Include endpoints

None

1326

6. Filter based on genotype QC (FinnGen only)

1289

Control definitions (FinnGen only)

Control exclude E4_OBESITY

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E66
Name in latin Obesitas extrema cum hypoventilatione alveolari

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 9083 4806 4240
Only index persons 8456 4518 3938
Unadjusted period prevalence (%)
Whole population 0.13 0.14 0.12
Only index persons 0.16 0.17 0.15
Median age at first event (years)
Whole population 62.01 62.99 60.88
Only index persons 62.08 62.87 61.17

-FinnGen-

Key figures

All Female Male
Number of individuals 1289 718 571
Unadjusted period prevalence (%) 0.28 0.28 0.29
Median age at first event (years) 58.97 57.49 60.84

-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 E4_OBESITYXTRMALV and mortality.

Females

Parameter HR [95% CI] p-value
E4_OBESITYXTRMALV 4.928 [4.15, 5.85] < 0.001
Birth year 0.999 [0.99, 1.01] 0.785

During the follow-up period (1.1.1998 — 31.12.2019), 1150 out of 3720 females with E4_OBESITYXTRMALV died.

Males

Parameter HR [95% CI] p-value
E4_OBESITYXTRMALV 4.648 [3.91, 5.52] < 0.001
Birth year 0.983 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 1186 out of 3284 males with E4_OBESITYXTRMALV died.

Mortality risk

Mortality risk for people of age

years, who have E4_OBESITYXTRMALV.

N-year risk Females Males
1 0.708% 0.697%
5 3.189% 4.419%
10 7.568% 11.367%
15 13.934% 20.929%
20 25.508% 33.412%

Relationships between endpoints

Index endpoint: E4_OBESITYXTRMALV – Extreme obesity with alveolar hypoventilation

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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