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.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
70590 |
4. Check minimum number of eventsNone |
70590 |
5. Include endpoints |
72309 |
6. Filter based on genotype QC (FinnGen only) |
69640 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF2
Metabolic disorders
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 600866 | 310200 | 287867 |
| Only index persons | 546864 | 283002 | 263862 |
| Unadjusted period prevalence (%) | |||
| Whole population | 8.45 | 8.88 | 8.04 |
| Only index persons | 10.24 | 10.40 | 10.07 |
| Median age at first event (years) | |||
| Whole population | 67.87 | 70.68 | 64.84 |
| Only index persons | 67.66 | 70.30 | 64.83 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 69640 | 33997 | 35643 |
| Unadjusted period prevalence (%) | 15.68 | 13.35 | 17.90 |
| Median age at first event (years) | 65.24 | 64.95 | 65.52 |
-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_METABOLIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABOLIA | 1.772 [1.62, 1.94] | < 0.001 |
| Birth year | 0.987 [0.98, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 72178 out of 240806 females with E4_METABOLIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABOLIA | 1.857 [1.68, 2.05] | < 0.001 |
| Birth year | 0.982 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 63355 out of 223554 males with E4_METABOLIA died.
Mortality risk
Mortality risk for people of age
years, who have E4_METABOLIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.11% | 0.271% |
| 5 | 0.582% | 1.555% |
| 10 | 1.453% | 3.951% |
| 15 | 3.034% | 7.433% |
| 20 | 5.208% | 12.038% |
Relationships between endpoints
↥Index endpoint: E4_METABOLIA – Metabolic disorders
GWS hits: 38
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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