Lipoprotein deficiency

E4_LIPODEF

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 E78.6
  • Hospital discharge: ICD-9 2725
  • Cause of death: ICD-10 E78.6
  • Cause of death: ICD-9 2725

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

77

4. Check minimum number of events

None

77

5. Include endpoints

None

77

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
Deficientia lipoproteinorum

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 675 279 394
Only index persons 614 256 358
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 65.75 68.29 63.94
Only index persons 65.71 68.17 63.94

-FinnGen-

Key figures

All Female Male
Number of individuals 72 24 48
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 60.90 60.49 61.11

-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
77
Matched controls
770
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E78.63
ICD-10 Finland
Low HDL syndrome
+∞
53.5
45
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
8.1
14.6
24
41
C10AA05
ATC
atorvastatin; oral
5.9
13.3
51
191
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
5.5
11.8
33
93
E78.69
ICD-10 Finland
Lipoprotein deficiency, other or unspecified
+∞
11.8
11
*
215
Kela drug reimbursment
Diabetes, non-insulin-treated
5.1
10.6
31
90
T90
ICPC
Diabetes non-insulin dependent
4.8
9.7
30
90
E78.6
ICD-10 Finland
Lipoprotein deficiency
+∞
9.6
9
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
+∞
9.6
9
*
C07AB07
ATC
bisoprolol; oral
4.4
8.4
55
280
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.6
8.2
25
73
103
Kela drug reimbursment
Diabetes, insulin-treated
4.1
8.2
33
119
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.0
8.0
50
243
SPAT1262
SPAT
Handing over of treatment supplies
4.7
7.9
22
60
E78.61
ICD-10 Finland
Abetalipoproteinaemia
+∞
7.4
7
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.5
7.2
21
59
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
44.1
6.9
8
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
9.5
6.6
13
16
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.8
6.5
25
86
E87.6
ICD-10 Finland
Hypokalaemia
20.1
6.4
9
5
N08.4*E78.6
ICD-10 Finland
Glomerular disorders in lecithin cholesterol acyltransferase deficiency
+∞
6.3
6
*
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.7
6.2
26
94
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
4.4
6.2
18
50
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.0
6.1
21
66

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
35
153
3.36
6.26
5.9
3.1
14.29
5.11
mg/mmol
0.52
22
100
33
141
3.35
6.10
5.0
2.7
111.21
32.38
mg/l
0.71
22
93
49
266
3.32
6.05
8.1
5.7
1.21
1.21
mmol/l
0.04
37
229
49
276
3.13
5.50
21.2
11.5
1.32
1.22
inr
0.27
19
79
33
150
3.10
5.39
5.1
2.6
7.40
8.03
mmol/l
0.42
27
125
40
206
2.96
5.19
2.4
2.0
91.37
96.24
pmol/l
0.28
23
113
44
252
2.74
4.50
6.8
4.7
1.22
1.21
mmol/l
0.30
44
229
29
134
2.87
4.47
2.0
1.5
2.74
1.40
mmol/l
1.13
22
110
25
111
2.85
4.11
2.4
1.8
352.00
420.60
pmol/l
0.75
19
101
68
521
3.61
4.10
5.5
4.3
2.03
1.93
mu/l
0.28
60
466
21
93
2.73
3.41
2.3
4.1
0.86
0.82
mmol/l
0.82
21
86
29
156
2.38
3.14
5.1
3.4
7.41
7.40
ph
0.33
13
33
29
157
2.36
3.09
5.0
4.8
—
—
—
0
0
43
276
2.26
3.06
4.6
3.4
0.00
0.00
estimate
-0.00
12
49
13
47
3.12
2.99
4.2
4.0
—
—
—
0
0
32
184
2.26
2.94
3.3
2.6
7.83
401.11
e6/l
0.55
23
136
42
273
2.18
2.83
4.5
3.4
0.00
0.00
estimate
-0.00
12
56
36
222
2.17
2.75
6.4
3.6
23.89
55.16
ng/l
0.98
28
159
56
412
2.32
2.73
4.6
3.9
—
—
—
0
0
44
295
2.15
2.70
6.0
6.2
2.06
1.79
e9/l
0.78
38
262
33
199
2.15
2.65
4.2
3.1
27.76
29.46
e6/l
0.04
23
143
26
143
2.24
2.61
4.3
6.9
—
—
—
0
0
43
289
2.10
2.59
6.1
6.1
0.61
0.59
e9/l
0.28
37
248
29
168
2.16
2.56
3.3
2.6
0.11
0.44
e6/l
1.33
20
120
43
290
2.09
2.56
6.1
6.1
0.04
0.04
e9/l
0.08
37
249
41
272
2.09
2.54
6.0
7.4
—
—
—
0
0
15
65
2.62
2.50
1.6
1.8
—
—
—
0
0
56
420
2.22
2.49
4.7
3.7
15.13
14.78
pmol/l
0.50
51
376
41
274
2.06
2.48
6.2
4.4
0.00
0.00
estimate
-0.00
12
50
40
267
2.04
2.40
15.1
10.4
0.00
0.01
e9/l
0.50
35
214
43
299
1.99
2.26
6.2
6.3
0.18
0.20
e9/l
0.23
37
258
18
90
2.31
2.23
1.8
2.3
—
—
—
0
0
72
628
3.25
2.17
26.9
15.9
88.93
79.19
umol/l
0.93
72
628
30
186
2.00
2.17
7.4
3.3
—
—
—
0
0
63
509
2.31
2.13
22.5
16.1
15.93
15.23
%
0.30
63
499
70
601
2.81
2.13
23.3
13.5
25.42
24.06
mg/l
0.13
61
470
27
164
2.00
2.05
3.5
2.7
—
—
—
0
0
7
21
3.56
2.02
19.0
13.6
—
—
—
0
0
70
608
2.66
1.97
6.8
4.6
2.40
2.77
mmol/l
2.31
63
557
50
378
1.92
1.95
6.3
3.6
—
—
—
0
0
9
34
2.86
1.94
3.6
6.4
23.06
24.13
mmol/l
—
9
34
7
23
3.24
1.85
3.7
3.4
—
—
—
0
0
68
594
2.24
1.68
6.5
4.2
1.07
1.43
mmol/l
7.45
60
543
70
618
2.46
1.67
27.0
14.9
4.01
4.00
mmol/l
0.15
70
596
70
615
2.52
1.67
26.8
14.8
139.70
139.76
mmol/l
0.08
70
595
6
20
3.16
1.61
1.5
1.7
—
—
—
0
0
71
631
2.60
1.60
25.9
12.4
—
—
—
0
0
7
27
2.75
1.55
1.0
1.1
—
—
—
0
0
7
27
2.75
1.55
2.9
2.2
0.64
0.75
%
—
7
27
68
597
2.19
1.54
6.4
4.2
4.12
4.63
mmol/l
3.08
62
550
67
579
2.21
1.54
6.2
4.4
6.76
5.95
mmol/l
1.68
59
529
11
52
2.30
1.53
7.6
2.8
—
—
—
0
0
24
154
1.81
1.50
4.8
3.8
0.00
0.00
estimate
-0.00
12
47
11
53
2.25
1.47
7.8
2.8
-0.67
1.67
mmol/l
1.47
11
41
7
29
2.55
1.43
2.9
2.1
0.74
1.52
%
—
7
29
67
584
2.13
1.42
5.6
3.8
2.17
1.31
mmol/l
2.41
61
529
23
148
1.79
1.42
3.7
2.8
—
—
—
0
0
10
47
2.30
1.40
7.4
3.4
—
—
—
0
0
8
38
2.23
1.22
1.4
1.5
—
—
—
0
0
6
26
2.41
1.21
1.0
1.3
—
—
—
0
0
22
146
1.71
1.21
1.7
1.3
—
—
—
0
0
13
73
1.94
1.19
2.5
4.1
105.46
104.66
mmol/l
0.41
13
73
7
31
2.38
1.13
8.0
6.4
—
—
—
0
0
10
53
2.02
1.07
2.5
1.5
—
—
—
0
0
30
225
1.55
1.00
2.0
1.9
—
—
—
0
0
31
235
1.53
0.98
4.0
2.7
—
—
—
0
0
11
66
1.78
0.84
1.9
2.5
0.18
0.21
g/l
0.62
11
60
0
27
0.00
0.79
0.0
2.5
—
19.10
—
0
20
25
190
1.47
0.76
4.1
2.2
—
—
—
0
0
5
24
2.16
0.76
1.0
2.8
23.86
23.82
mmol/l
—
5
24
5
25
2.07
0.74
3.6
3.1
—
—
—
0
0
12
78
1.64
0.70
1.6
1.6
—
—
—
0
0
7
43
1.69
0.69
1.6
2.2
—
—
—
0
0
18
131
1.49
0.67
5.4
3.7
—
—
—
0
0
21
158
1.45
0.67
3.7
2.6
—
—
—
0
0
12
81
1.57
0.61
1.1
1.3
—
—
—
0
0
9
59
1.59
0.57
2.7
1.5
—
—
—
0
0
6
38
1.63
0.56
2.3
2.8
—
—
—
0
0
6
39
1.58
0.54
1.3
1.6
—
—
—
0
0
7
48
1.50
0.48
1.3
1.5
—
—
—
0
0
5
34
1.50
0.41
3.0
2.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
16
126
1.34
0.39
1.9
1.6
1.04
0.86
mg/l
—
10
94
5
36
1.42
0.39
2.2
3.4
87.80
93.77
%
—
5
36
7
53
1.35
0.32
9.7
3.7
—
—
—
0
0
10
76
1.36
0.30
1.6
1.3
—
—
—
0
0
9
75
1.23
0.26
2.9
1.5
—
—
—
0
0
5
37
1.38
0.24
2.2
3.3
0.68
0.69
%
—
5
37
0
11
0.00
0.21
0.0
1.2
—
99.50
—
0
6
0
10
0.00
0.21
0.0
1.3
—
183.79
—
0
10
7
59
1.20
0.18
13.4
3.6
—
—
—
0
0
8
70
1.16
0.17
1.0
1.3
—
—
—
0
0
12
107
1.14
0.09
1.2
1.3
0.96
2.61
u/ml
—
5
32
6
58
1.04
0.08
1.5
1.3
—
—
—
0
0
6
58
1.04
0.08
1.5
1.4
—
—
—
0
0
5
64
0.77
0.08
1.4
1.5
—
—
—
0
0
6
66
0.90
0.00
4.2
4.5
2.68
6.02
ug/l
—
6
57
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
24.8
—
1118.00
—
0
6
0
6
0.00
0.00
0.0
18.8
—
809.17
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
5.20
—
0
8
5
54
0.92
-0.00
1.6
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
171.40
—
0
5
0
9
0.00
-0.00
0.0
1.9
—
0.38
—
0
9
0
9
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
5.0
—
20.56
—
0
9
0
9
0.00
-0.00
0.0
2.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_LIPODEF and mortality.

Females

Parameter HR [95% CI] p-value
E4_LIPODEF 2.042 [1.38, 3.01] < 0.001
Birth year 0.996 [0.99, 1.0] 0.377

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 249 females with E4_LIPODEF died.

Males

Parameter HR [95% CI] p-value
E4_LIPODEF 2.28 [1.56, 3.33] < 0.001
Birth year 0.986 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 114 out of 343 males with E4_LIPODEF died.

Mortality risk

Mortality risk for people of age

years, who have E4_LIPODEF.

N-year risk Females Males
1 0.166% 0.293%
5 1.201% 2.475%
10 3.159% 6.698%
15 5.917% 12.738%
20 10.015% 20.311%

Relationships between endpoints

Index endpoint: E4_LIPODEF – Lipoprotein deficiency

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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