obsolete_familial combined hyperlipidemia: ['A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.']
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. |
1394 |
4. Check minimum number of eventsNone |
1394 |
5. Include endpointsNone |
1394 |
6. Filter based on genotype QC (FinnGen only) |
1340 |
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
Similar endpoints
↥List of similar endpoints to
Mixed hyperlipidaemia
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
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 9795 | 3468 | 6263 |
| Only index persons | 8546 | 3081 | 5465 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.15 | 0.10 | 0.17 |
| Only index persons | 0.17 | 0.11 | 0.21 |
| Median age at first event (years) | |||
| Whole population | 57.21 | 62.08 | 54.43 |
| Only index persons | 56.64 | 61.35 | 53.98 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1340 | 473 | 867 |
| Unadjusted period prevalence (%) | 0.35 | 0.19 | 0.44 |
| Median age at first event (years) | 55.88 | 57.06 | 55.24 |
-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_HYPERLIPMIX and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERLIPMIX | 1.44 [1.28, 1.62] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.339 |
During the follow-up period (1.1.1998 — 31.12.2019), 748 out of 2730 females with E4_HYPERLIPMIX died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERLIPMIX | 1.599 [1.45, 1.76] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.007 |
During the follow-up period (1.1.1998 — 31.12.2019), 1357 out of 4799 males with E4_HYPERLIPMIX died.
Mortality risk
Mortality risk for people of age
years, who have E4_HYPERLIPMIX.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.169% | 0.275% |
| 5 | 0.803% | 1.708% |
| 10 | 2.097% | 4.536% |
| 15 | 4.065% | 8.75% |
| 20 | 7.427% | 14.817% |
Relationships between endpoints
↥Index endpoint: E4_HYPERLIPMIX – Mixed hyperlipidaemia
GWS hits: 6
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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