Metabolic disorder, other/unspecified

E4_METABONAS

metabolic disease: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.

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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 E88.8#, E88.9#
  • Hospital discharge: ICD-9 277[8-9]
  • Cause of death: ICD-10 E88.8#, E88.9#
  • Cause of death: ICD-9 277[8-9]

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

94

4. Check minimum number of events

None

94

5. Include endpoints

None

94

6. Filter based on genotype QC (FinnGen only)

87

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 1049 516 527
Only index persons 686 348 338
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 19.12 21.80 16.02
Only index persons 38.81 39.57 38.04

-FinnGen-

Key figures

All Female Male
Number of individuals 87 46 41
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 53.08 54.54 51.44

-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_METABONAS and mortality.

Females

Parameter HR [95% CI] p-value
E4_METABONAS 3.691 [2.35, 5.8] < 0.001
Birth year 0.995 [0.99, 1.0] 0.251

During the follow-up period (1.1.1998 — 31.12.2019), 69 out of 330 females with E4_METABONAS died.

Males

Parameter HR [95% CI] p-value
E4_METABONAS 4.79 [3.22, 7.12] < 0.001
Birth year 0.984 [0.97, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 316 males with E4_METABONAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_METABONAS.

N-year risk Females Males
1 0.407% 0.844%
5 2.113% 5.355%
10 5.119% 12.316%
15 10.336% 21.695%
20 17.406% 33.78%

Relationships between endpoints

Index endpoint: E4_METABONAS – Metabolic disorder, other/unspecified

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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