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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Disorder of amino-acid metabolism, other/unspecified

E4_AMINONAS

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 E72.8, E72.9
  • Hospital discharge: ICD-9 2707
  • Cause of death: ICD-10 E72.8, E72.9
  • Cause of death: ICD-9 2707

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

39

4. Check minimum number of events

None

39

5. Include endpoints

None

39

6. Filter based on genotype QC (FinnGen only)

38

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 457 216 237
Only index persons 323 153 170
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 58.69 61.68 55.77
Only index persons 59.92 63.72 56.50

-FinnGen-

Key figures

All Female Male
Number of individuals 38 18 20
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 58.17 60.49 56.09

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint E4_AMINONAS and mortality.

Females

Parameter HR [95% CI] p-value
E4_AMINONAS 1.813 [1.19, 2.77] 0.006
Birth year 0.997 [0.99, 1.01] 0.458

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 158 females with E4_AMINONAS died.

Males

Parameter HR [95% CI] p-value
E4_AMINONAS 3.184 [1.91, 5.31] < 0.001
Birth year 0.989 [0.98, 1.0] 0.024

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 174 males with E4_AMINONAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_AMINONAS.

N-year risk Females Males
1 0.178% 0.628%
5 1.062% 3.808%
10 2.809% 9.333%
15 5.638% 17.533%
20 9.606% 28.165%

Relationships between endpoints

Index endpoint: E4_AMINONAS – Disorder of amino-acid metabolism, other/unspecified

GWS hits: -

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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