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Hyperchylomicronaemia

DOID Endpoint Browser PheWeb

E4_HYPERCHYLO

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

73

4. Check minimum number of events

None

73

5. Include endpoints

None

73

6. Filter based on genotype QC (FinnGen only)

72

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 72 25 47
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 57.31 61.12 55.29

-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

↥

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
73
Matched controls
730
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E78.3
ICD-10 Finland
Hyperchylomicronaemia
+∞
97.1
70
*
I25.1
ICD-10 Finland
Atherosclerotic heart disease
9.6
21.7
41
86
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
7.7
16.4
33
71
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
21.6
16.3
24
16
C01DA14
ATC
isosorbide mononitrate; oral
7.7
14.2
25
46
215
Kela drug reimbursment
Diabetes, non-insulin-treated
6.3
14.1
38
107
103
Kela drug reimbursment
Diabetes, insulin-treated
6.3
14.0
41
124
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
7.1
13.4
26
53
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
5.6
12.0
35
103
A10BA02
ATC
metformin; oral
5.3
11.5
40
136
C01DA08
ATC
isosorbide dinitrate; oral, oral aerosol, sublingual, transdermal
5.2
10.8
33
100
C10AB05
ATC
fenofibrate; oral
38.9
10.7
13
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
9.4
10.3
22
32
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
6.6
10.0
19
37
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
63.8
9.9
11
*
C10AX09
ATC
ezetimibe; oral
5.4
9.9
25
64
C10AA01
ATC
simvastatin; oral
4.8
9.5
49
219
C01DA02
ATC
glyceryl trinitrate; oral, oral aerosol, sublingual, transdermal
4.9
9.4
28
82
C10AA05
ATC
atorvastatin; oral
4.6
9.2
47
207
B01AC04
ATC
clopidogrel; oral
5.0
9.1
26
73
T90
ICPC
Diabetes non-insulin dependent
4.5
9.0
33
113
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
57.1
8.9
10
*
C10AB02
ATC
bezafibrate; oral
31.8
8.8
11
*
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
4.2
8.0
31
109
I20.81
ICD-10 Finland
Other angina pectoris stenosed coronary artery
9.0
7.7
16
22
SPAT1250
SPAT
Comprehensive monitoring of chronic illness
4.0
7.6
33
126
C08CA01
ATC
amlodipine; oral
3.9
7.4
45
214
E78.29
ICD-10 Finland
Other mixed hyperlipidaemia
+∞
7.4
7
*
I20.09
ICD-10 Finland
Unstable angina
9.9
7.2
14
17
Z95.1
ICD-10 Finland
Presence of aortocoronary bypass graft
19.0
7.0
10
6
FNA01
NOMESCO Finland
Anastomosis to coronary artery from internal mammary artery, one distal anastamosis
11.7
6.8
12
12
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
8.8
6.8
14
19
XF402
NOMESCO Finland
ECG with work load test
4.8
6.7
18
47
C03CA01
ATC
furosemide; systemic
3.6
6.7
34
142
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
76.2
6.5
7
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.5
6.3
46
239
E66.00
ICD-10 Finland
Metabolic syndrome
11.5
6.3
11
11
A10AC01
ATC
insulin (human); parenteral
7.6
6.2
14
22

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
43
163
4.99
10.63
5.7
2.8
248.53
36.38
mg/l
1.93
31
114
44
177
4.74
9.91
6.7
3.3
76.11
6.31
mg/mmol
1.41
28
113
43
171
4.69
9.80
6.5
2.7
6.56
8.40
mmol/l
2.51
34
136
25
86
3.90
6.53
6.7
1.5
10.22
15.01
umol/l
1.91
25
77
43
229
3.14
5.39
6.2
4.1
35.90
41.68
ng/l
0.21
36
170
19
66
3.54
4.76
9.5
3.6
5.31
5.20
kpa
0.21
19
61
9
11
9.14
4.71
1.1
1.1
—
—
—
0
0
19
67
3.48
4.65
9.4
3.7
1.96
1.37
mmol/l
0.25
19
54
31
152
2.81
4.30
5.8
4.1
—
—
—
0
0
23
99
2.93
4.02
1.3
1.6
2.55
3.03
g/l
0.34
15
62
31
159
2.65
3.88
3.1
1.9
162.71
174.60
u/l
0.09
31
149
14
40
4.08
3.87
6.4
2.8
5.48
5.18
kpa
0.38
14
40
10
21
5.34
3.71
8.6
15.8
—
—
—
0
0
50
337
2.54
3.36
9.6
3.9
8.52
6.76
mmol/l
3.78
50
313
16
62
3.02
3.31
25.1
2.4
1.15
1.07
mmol/l
0.43
16
53
13
47
3.15
3.00
17.8
3.4
—
—
—
0
0
43
282
2.28
2.92
16.8
13.6
1.08
1.28
inr
—
6
81
8
18
4.85
2.88
3.1
2.5
25.38
24.98
mmol/l
—
8
18
53
382
2.41
2.85
5.4
3.8
—
—
—
0
0
12
43
3.14
2.80
7.1
2.6
—
—
—
0
0
12
41
3.30
2.78
11.5
3.4
94.33
92.89
%
0.34
12
41
13
50
2.95
2.70
3.0
1.6
—
—
—
0
0
10
31
3.57
2.64
7.4
3.9
25.20
25.14
mmol/l
—
10
31
5
7
7.56
2.59
1.0
1.1
—
—
—
0
0
10
32
3.45
2.55
6.0
2.3
110.80
134.00
g/l
—
10
32
40
265
2.13
2.54
8.1
6.9
—
—
—
0
0
12
46
2.93
2.50
13.8
2.8
—
—
—
0
0
9
27
3.65
2.49
8.0
1.9
0.70
0.76
%
—
9
27
27
155
2.18
2.45
3.1
2.5
—
—
—
0
0
6
12
5.34
2.45
1.2
1.4
—
—
—
0
0
13
53
2.77
2.44
2.9
1.5
—
—
—
0
0
41
278
2.08
2.41
17.7
4.8
1.20
1.21
mmol/l
0.12
36
238
8
23
3.77
2.35
12.1
6.1
—
—
—
0
0
6
14
4.57
2.20
1.3
1.1
2521.00
14593.44
e6/l
—
6
9
32
205
2.00
2.13
4.8
3.3
77.24
37.57
e6/l
0.25
27
153
8
26
3.32
2.08
9.5
3.0
—
—
—
0
0
28
173
2.00
2.05
4.3
2.1
—
—
—
0
0
9
33
2.96
2.01
1.7
1.5
—
—
—
0
0
34
227
1.93
1.98
2.4
1.9
104.56
96.31
pmol/l
0.39
21
111
5
11
4.79
1.97
6.8
1.3
24.80
20.18
s
—
5
11
7
22
3.41
1.93
9.9
3.0
24.40
25.39
mmol/l
—
7
22
7
22
3.41
1.93
2.3
3.4
136.43
75.29
u/ml
—
7
17
6
17
3.75
1.88
1.3
1.5
0.28
0.23
g/l
—
6
17
6
18
3.53
1.78
1.5
1.5
1.17
1.16
g/l
—
6
18
25
156
1.92
1.74
4.1
2.5
—
—
—
0
0
13
63
2.29
1.72
2.7
1.5
—
—
—
0
0
39
282
1.82
1.71
3.9
3.5
0.00
0.00
estimate
—
7
57
15
78
2.16
1.69
16.7
3.1
103.33
103.88
mmol/l
0.20
15
78
38
277
1.78
1.59
3.9
3.5
0.00
0.00
estimate
—
9
63
0
45
0.00
1.56
0.0
1.8
—
—
—
0
0
5
15
3.50
1.55
3.4
1.5
5.02
4.70
kpa
—
5
15
5
15
3.50
1.55
3.4
1.5
9.00
8.45
kpa
—
5
15
19
112
1.94
1.54
3.1
1.4
3.74
1.14
mg/l
0.80
19
92
11
52
2.31
1.53
11.4
4.4
—
—
—
0
0
25
167
1.76
1.37
4.0
2.4
0.08
0.50
e6/l
2.19
19
127
65
576
2.17
1.34
6.2
4.7
7.32
6.01
mmol/l
5.17
60
518
6
24
2.63
1.33
1.2
1.8
—
—
—
0
0
8
35
2.44
1.31
2.6
1.9
94.88
119.60
ng/l
—
8
30
12
64
2.05
1.27
1.4
1.2
—
—
—
0
0
66
592
2.20
1.26
8.0
5.0
2.04
2.75
mmol/l
6.13
61
536
8
37
2.30
1.26
1.4
1.3
—
—
—
0
0
5
19
2.75
1.23
2.2
2.7
8.26
7.93
kpa
—
5
19
7
30
2.47
1.16
1.4
1.3
—
—
—
0
0
7
31
2.39
1.14
2.4
2.3
—
—
—
0
0
10
52
2.07
1.12
4.1
5.3
0.00
0.16
%
—
5
19
14
83
1.85
1.11
2.9
1.8
—
—
—
0
0
58
502
1.76
1.11
6.1
4.4
1.97
2.05
mu/l
0.19
53
444
36
278
1.58
1.10
5.4
4.5
0.00
0.00
estimate
—
9
58
5
22
2.36
1.05
1.0
1.1
—
—
—
0
0
10
54
1.99
1.02
4.1
5.2
0.10
0.74
%
—
5
21
9
50
1.91
1.01
5.4
3.2
—
—
—
0
0
63
565
1.84
0.97
6.8
4.1
2.82
1.33
mmol/l
1.60
55
509
15
98
1.67
0.87
8.9
2.6
175.73
180.74
ng/l
0.01
15
72
26
198
1.49
0.80
6.1
3.4
—
—
—
0
0
67
620
1.98
0.80
37.8
15.7
107.22
80.47
umol/l
1.90
67
620
21
156
1.49
0.72
3.7
3.1
—
—
—
0
0
63
581
1.62
0.65
7.6
4.4
1.18
1.45
mmol/l
5.60
57
531
63
581
1.62
0.65
7.5
4.5
4.23
4.67
mmol/l
2.06
57
537
8
49
1.71
0.65
1.3
1.4
—
—
—
0
0
63
582
1.60
0.63
33.1
13.0
28.28
22.50
mg/l
0.52
54
463
14
192
0.66
0.63
2.5
3.0
0.64
0.69
ug/l
0.22
14
125
10
64
1.65
0.62
3.6
1.9
—
—
—
0
0
17
125
1.47
0.61
4.0
3.5
—
—
—
0
0
6
34
1.83
0.60
18.0
2.4
—
—
—
0
0
6
34
1.83
0.60
2.5
3.3
0.09
0.10
e6/l
—
6
34
12
82
1.55
0.59
1.2
1.3
—
—
—
0
0
21
168
1.35
0.47
4.5
3.7
0.00
0.00
estimate
—
8
51
9
68
1.37
0.39
2.2
1.5
—
—
—
0
0
9
68
1.37
0.39
1.4
1.3
—
—
—
0
0
64
606
1.45
0.39
30.2
12.6
—
—
—
0
0
26
300
0.79
0.36
4.4
4.9
2.03
2.08
ug/l
0.03
21
265
27
234
1.24
0.33
3.4
2.0
—
—
—
0
0
17
139
1.29
0.33
5.3
5.8
—
—
—
0
0
7
54
1.33
0.31
4.3
3.2
—
—
—
0
0
18
213
0.79
0.30
3.9
2.8
—
—
—
0
0
12
149
0.77
0.29
1.6
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
4.5
—
26.00
—
0
10
24
256
0.91
0.09
17.1
9.8
0.00
0.00
e9/l
0.50
19
207
6
56
1.08
0.09
1.3
1.4
—
—
—
0
0
50
490
1.06
0.04
33.2
15.7
16.70
15.48
%
0.54
50
475
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
54
0.92
-0.00
1.0
1.4
—
—
—
0
0
43
430
1.00
-0.00
5.1
3.9
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.0
—
33.17
—
0
6
0
8
0.00
-0.00
0.0
2.9
—
2.01
—
0
8
0
9
0.00
-0.00
0.0
1.8
—
4.73
—
0
9
0
7
0.00
-0.00
0.0
3.7
—
317.00
—
0
7
0
6
0.00
-0.00
0.0
1.2
—
191.97
—
0
6
0
9
0.00
-0.00
0.0
1.4
—
234.22
—
0
9
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0

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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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