Hyperchylomicronaemia

E4_HYPERCHYLO

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 E78.3
  • Hospital discharge: ICD-9 2723
  • Cause of death: ICD-10 E78.3
  • Cause of death: ICD-9 2723

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

71

4. Check minimum number of events

None

71

5. Include endpoints

None

71

6. Filter based on genotype QC (FinnGen only)

71

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
Hyperchylomicronaemia

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 525 214 310
Only index persons 487 196 291
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 61.99 67.95 57.98
Only index persons 61.43 66.74 57.86

-FinnGen-

Key figures

All Female Male
Number of individuals 71 26 45
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 57.36 61.20 55.15

-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

No data

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
68
Matched controls
678
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E78.3
ICD-10 Finland
Hyperchylomicronaemia
+∞
89.9
65
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
49.4
17.9
21
6
I25.1
ICD-10 Finland
Atherosclerotic heart disease
10.2
16.0
38
75
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
8.9
13.0
31
58
C10AB02
ATC
bezafibrate; oral
+∞
11.8
11
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
11.9
11.7
22
26
C10AB05
ATC
fenofibrate; oral
52.7
11.4
13
*
A10BA02
ATC
metformin; oral
6.2
10.8
37
110
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
6.6
10.8
33
85
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
+∞
10.7
10
*
103
Kela drug reimbursment
Diabetes, insulin-treated
5.9
10.4
37
114
C10AX09
ATC
ezetimibe; oral
13.1
10.3
18
18
C10AA05
ATC
atorvastatin; oral
5.6
10.2
43
160
C10AA01
ATC
simvastatin; oral
5.6
10.2
46
185
215
Kela drug reimbursment
Diabetes, non-insulin-treated
5.9
10.0
34
98
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
+∞
9.6
9
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
8.2
9.1
21
35
C10AA07
ATC
rosuvastatin; oral
5.6
8.7
29
79
B01AC04
ATC
clopidogrel; oral
6.9
8.7
23
47
C10AA04
ATC
fluvastatin; oral
11.2
8.6
16
18
C01DA14
ATC
isosorbide mononitrate; oral
6.6
8.4
23
49
C01DA08
ATC
isosorbide dinitrate; oral, oral aerosol, sublingual, transdermal
5.0
7.8
29
88
I20.09
ICD-10 Finland
Unstable angina
13.1
7.7
13
12
E78.29
ICD-10 Finland
Other mixed hyperlipidaemia
+∞
7.4
7
*
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
14.2
7.4
12
10
T90
ICPC
Diabetes non-insulin dependent
4.9
7.4
27
80
A10BJ06
ATC
semaglutide; parenteral
44.6
6.9
8
*
81
HP
Angiography of the heart and coronary arteries
11.8
6.9
12
12
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
4.6
6.7
26
81
XF402
NOMESCO Finland
ECG with work load test
6.1
6.3
17
35
SPAT1250
SPAT
Comprehensive monitoring of chronic illness
3.9
6.3
31
119
285
Kela drug reimbursment
Dulaglutide, exenatide, liraglutide, lixisenatide and semaglutide (adults)
17.0
6.1
9
6
I20.81
ICD-10 Finland
Other angina pectoris stenosed coronary artery
7.4
6.1
14
23
Z95.1
ICD-10 Finland
Presence of aortocoronary bypass graft
12.8
6.0
10
9

Mortality – FinRegistry

Association

Association between endpoint E4_HYPERCHYLO and mortality.

Females

Parameter HR [95% CI] p-value
E4_HYPERCHYLO 1.618 [1.15, 2.27] 0.005
Birth year 0.996 [0.99, 1.0] 0.346

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 185 females with E4_HYPERCHYLO died.

Males

Parameter HR [95% CI] p-value
E4_HYPERCHYLO 1.441 [1.03, 2.02] 0.035
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 72 out of 267 males with E4_HYPERCHYLO died.

Mortality risk

Mortality risk for people of age

years, who have E4_HYPERCHYLO.

N-year risk Females Males
1 0.18% 0.268%
5 0.987% 1.735%
10 2.419% 4.267%
15 4.531% 7.504%
20 8.32% 12.569%

Relationships between endpoints

Index endpoint: E4_HYPERCHYLO – Hyperchylomicronaemia

GWS hits: -

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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