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. |
37649 |
4. Check minimum number of eventsNone |
37649 |
5. Include endpoints |
37649 |
6. Filter based on genotype QC (FinnGen only) |
36338 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E78
Name in latin
Hypercholesterolaemia pura
Similar endpoints
↥List of similar endpoints to
Pure hypercholesterolaemia
based on the number of shared cases.
Similar with more cases:
- Disorders of lipoprotein metabolism and other lipidaemias
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 284005 | 137350 | 145983 |
| Only index persons | 274601 | 133710 | 140891 |
| Unadjusted period prevalence (%) | |||
| Whole population | 4.00 | 3.93 | 4.08 |
| Only index persons | 5.15 | 4.92 | 5.38 |
| Median age at first event (years) | |||
| Whole population | 69.04 | 71.71 | 66.56 |
| Only index persons | 69.09 | 71.70 | 66.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 36338 | 16604 | 19734 |
| Unadjusted period prevalence (%) | 8.36 | 6.52 | 9.91 |
| Median age at first event (years) | 67.23 | 67.80 | 66.76 |
-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_HYPERCHOL and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERCHOL | 1.374 [1.23, 1.53] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 22764 out of 105618 females with E4_HYPERCHOL died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERCHOL | 1.355 [1.21, 1.51] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 24857 out of 112949 males with E4_HYPERCHOL died.
Mortality risk
Mortality risk for people of age
years, who have E4_HYPERCHOL.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.123% | 0.217% |
| 5 | 0.632% | 1.297% |
| 10 | 1.417% | 3.329% |
| 15 | 2.743% | 6.38% |
| 20 | 4.845% | 10.705% |
Relationships between endpoints
↥Index endpoint: E4_HYPERCHOL – Pure hypercholesterolaemia
GWS hits: 52
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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