No definition available.
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. |
6045 |
4. Check minimum number of eventsNone |
6045 |
5. Include endpointsNone |
6045 |
6. Filter based on genotype QC (FinnGen only) |
5834 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
5
First used in FinnGen datafreeze
DF6v3
Similar endpoints
↥List of similar endpoints to
Familial hypercholesterolemia
based on the number of shared cases.
Similar with more cases:
- Pure hypercholesterolaemia
- Disorders of lipoprotein metabolism and other lipidaemias
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 51090 | 24106 | 26865 |
| Only index persons | 48827 | 23192 | 25635 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.72 | 0.69 | 0.75 |
| Only index persons | 0.92 | 0.85 | 0.98 |
| Median age at first event (years) | |||
| Whole population | 68.34 | 71.31 | 65.66 |
| Only index persons | 68.32 | 71.27 | 65.66 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 5834 | 2382 | 3452 |
| Unadjusted period prevalence (%) | 1.41 | 0.94 | 1.73 |
| Median age at first event (years) | 65.48 | 65.69 | 65.34 |
-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_FH and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_FH | 1.354 [1.23, 1.49] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.143 |
During the follow-up period (1.1.1998 — 31.12.2019), 6158 out of 21580 females with E4_FH died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_FH | 1.442 [1.31, 1.59] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 7033 out of 24176 males with E4_FH died.
Mortality risk
Mortality risk for people of age
years, who have E4_FH.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.123% | 0.314% |
| 5 | 0.761% | 1.636% |
| 10 | 1.933% | 4.213% |
| 15 | 3.509% | 8.179% |
| 20 | 6.254% | 13.691% |
Relationships between endpoints
↥Index endpoint: E4_FH – Familial hypercholesterolemia
GWS hits: 22
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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