Familial hypercholesterolemia, with ischemic heart disease

E4_FH_IHD

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

  • I9_IHD
78346

3. Check pre-conditions, main-only, mode, registry filters

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

3356

6. Filter based on genotype QC (FinnGen only)

3228

Control definitions (FinnGen only)

Control conditions not I9_IHD

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF6v3

Case counts by codes

FinnGen case counts by registry codes:

No data for upset plot.

No data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 26704 11042 15581
Only index persons 25221 10477 14744
Unadjusted period prevalence (%)
Whole population 0.39 0.32 0.44
Only index persons 0.49 0.39 0.56
Median age at first event (years)
Whole population 70.10 74.13 67.25
Only index persons 70.07 74.09 67.22

-FinnGen-

Key figures

All Female Male
Number of individuals 3228 1059 2169
Unadjusted period prevalence (%) 0.87 0.42 1.09
Median age at first event (years) 66.71 68.14 66.01

-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_IHD and mortality.

Females

Parameter HR [95% CI] p-value
E4_FH_IHD 1.385 [1.26, 1.52] < 0.001
Birth year 0.997 [0.99, 1.0] 0.385

During the follow-up period (1.1.1998 — 31.12.2019), 3789 out of 10026 females with E4_FH_IHD died.

Males

Parameter HR [95% CI] p-value
E4_FH_IHD 1.505 [1.37, 1.66] < 0.001
Birth year 0.982 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 5058 out of 14273 males with E4_FH_IHD died.

Mortality risk

Mortality risk for people of age

years, who have E4_FH_IHD.

N-year risk Females Males
1 0.09% 0.343%
5 0.773% 1.518%
10 2.047% 3.828%
15 3.951% 6.822%
20 7.167% 11.645%

Relationships between endpoints

Index endpoint: E4_FH_IHD – Familial hypercholesterolemia, with ischemic heart disease

GWS hits: 14

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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