Lipoprotein deficiency

E4_LIPODEF

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

89

4. Check minimum number of events

None

89

5. Include endpoints

None

89

6. Filter based on genotype QC (FinnGen only)

74

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 74 26 48
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 61.13 61.17 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
79
Matched controls
790
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E78.63
ICD-10 Finland
Low HDL syndrome
+∞
53.3
45
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
7.4
14.7
27
52
C10AA05
ATC
atorvastatin; oral
5.4
12.2
52
208
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
5.4
12.0
34
97
E78.69
ICD-10 Finland
Lipoprotein deficiency, other or unspecified
+∞
11.7
11
*
215
Kela drug reimbursment
Diabetes, non-insulin-treated
4.8
9.9
31
94
E78.6
ICD-10 Finland
Lipoprotein deficiency
+∞
9.6
9
*
T90
ICPC
Diabetes non-insulin dependent
4.6
9.3
31
98
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.7
9.1
28
83
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
100.3
8.6
9
*
N08.4*E78.6
ICD-10 Finland
Glomerular disorders in lecithin cholesterol acyltransferase deficiency
+∞
8.5
8
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.7
8.0
23
64
C07AB07
ATC
bisoprolol; oral
4.1
8.0
56
293
SPAT1262
SPAT
Handing over of treatment supplies
4.6
7.7
22
61
103
Kela drug reimbursment
Diabetes, insulin-treated
3.9
7.6
33
124
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
88.0
7.6
8
*
E78.61
ICD-10 Finland
Abetalipoproteinaemia
+∞
7.4
7
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.7
7.3
52
270
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
5.1
7.2
17
40
I10
ICD-10 Finland
Essential (primary) hypertension
4.4
7.1
63
374
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
9.2
7.0
14
18
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.2
6.9
23
71
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
4.4
6.8
20
56
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.8
6.7
27
96
C03CA01
ATC
furosemide; systemic
3.4
6.6
34
142
E87.6
ICD-10 Finland
Hypokalaemia
20.0
6.4
9
5
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.7
6.2
25
88

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
41
188
3.45
6.87
5.3
2.8
96.87
32.17
mg/l
0.78
28
124
56
318
3.61
6.52
9.4
6.2
1.19
1.21
mmol/l
0.64
43
274
41
196
3.27
6.29
5.4
2.8
8.58
8.13
mmol/l
0.24
35
163
40
197
3.09
5.71
7.0
3.2
14.09
5.62
mg/mmol
0.59
27
129
39
192
3.04
5.53
2.9
1.8
352.59
176.24
u/l
0.65
34
185
51
292
3.11
5.51
8.3
5.3
1.20
1.21
mmol/l
0.20
51
269
52
311
2.97
5.02
23.2
12.6
1.23
1.23
inr
0.00
43
258
45
255
2.78
4.72
2.8
1.8
2.29
1.46
mmol/l
1.14
36
203
36
187
2.70
4.41
5.1
3.7
7.40
7.40
ph
0.21
24
134
14
36
4.50
4.26
6.1
9.6
23.11
24.57
mmol/l
0.85
14
36
44
259
2.58
4.11
2.6
2.0
91.98
97.64
pmol/l
0.37
25
143
24
105
2.85
4.03
5.6
1.9
11.71
13.13
umol/l
0.51
19
94
38
217
2.45
3.68
3.6
2.8
8.77
337.07
e6/l
0.57
27
167
34
186
2.45
3.60
3.8
2.8
0.10
0.38
e6/l
1.66
23
137
71
567
3.49
3.58
6.3
4.8
2.09
1.94
mu/l
0.44
63
512
15
54
3.19
3.48
1.9
3.4
1.21
1.22
mmol/l
0.58
15
47
25
122
2.53
3.34
2.6
1.9
347.95
106364042.08
pmol/l
0.50
20
110
14
50
3.19
3.28
10.1
6.4
—
—
—
0
0
14
50
3.19
3.28
4.1
4.2
—
—
—
0
0
39
237
2.27
3.17
5.0
3.5
27.41
23.60
e6/l
0.10
28
171
17
73
2.69
2.89
1.8
1.7
—
—
—
0
0
20
94
2.51
2.85
4.3
5.7
106.10
104.72
mmol/l
1.08
20
94
50
347
2.20
2.83
6.9
6.4
2.07
1.76
e9/l
0.98
39
312
45
300
2.16
2.81
17.1
12.7
0.00
0.01
e9/l
0.29
37
245
49
340
2.16
2.74
7.0
6.3
0.62
0.59
e9/l
0.45
38
294
31
181
2.17
2.69
6.1
5.0
—
—
—
0
0
40
258
2.11
2.69
7.0
3.7
22.77
48.82
ng/l
0.98
31
191
49
342
2.14
2.67
7.0
6.4
0.04
0.04
e9/l
0.11
38
294
31
182
2.16
2.65
5.2
6.0
—
—
—
0
0
22
115
2.27
2.47
2.4
3.7
0.86
0.81
mmol/l
1.09
22
109
45
311
2.04
2.44
7.1
6.4
0.60
0.67
%
0.40
40
296
36
230
2.04
2.43
6.9
6.2
—
—
—
0
0
49
350
2.05
2.42
7.1
6.5
0.18
0.19
e9/l
0.28
38
307
45
312
2.03
2.41
7.0
6.6
8.69
8.99
%
0.20
40
297
9
29
3.37
2.31
5.9
7.3
23.59
24.02
mmol/l
—
9
29
55
418
2.04
2.19
6.7
4.0
—
—
—
0
0
74
649
3.21
2.16
32.8
17.7
4.05
4.00
mmol/l
0.81
74
633
5
10
5.25
2.10
2.2
1.8
74.40
64.58
%
—
5
10
29
180
1.97
2.06
2.2
1.7
18.99
20.89
nmol/l
0.31
24
144
14
65
2.40
2.02
4.9
6.5
7.42
7.43
ph
—
6
40
7
21
3.55
2.01
20.6
13.9
—
—
—
0
0
74
655
3.05
2.00
27.2
14.0
—
—
—
0
0
47
346
1.88
1.97
5.3
3.6
0.00
0.00
estimate
-0.00
14
68
9
34
2.85
1.93
2.6
2.4
0.60
0.69
%
—
9
34
9
34
2.85
1.93
2.6
2.4
0.72
1.47
%
—
9
34
19
104
2.09
1.88
2.1
2.4
—
—
—
0
0
9
35
2.77
1.87
9.9
2.9
22.61
23.82
mmol/l
—
9
35
59
473
1.98
1.85
5.3
4.0
15.26
14.78
pmol/l
0.82
54
428
37
257
1.83
1.83
4.5
3.4
6.12
6.23
ph
0.18
21
144
46
342
1.83
1.82
5.3
3.6
0.00
0.00
estimate
-0.00
15
72
8
30
2.85
1.78
1.0
1.1
—
—
—
0
0
13
62
2.31
1.77
8.1
2.9
-0.30
1.54
mmol/l
1.65
13
51
13
62
2.31
1.77
8.0
2.8
7.36
7.39
ph
—
8
36
73
648
2.66
1.75
32.8
17.6
139.66
139.74
mmol/l
0.11
73
635
49
376
1.80
1.70
9.7
12.8
4.37
3.87
e9/l
1.07
44
327
74
662
2.86
1.69
35.0
20.4
89.74
79.25
umol/l
1.04
74
654
35
244
1.78
1.68
2.3
2.1
—
—
—
0
0
62
513
1.97
1.67
29.1
19.9
13.88
13.70
%
0.44
62
508
72
637
2.47
1.66
27.5
15.6
27.99
25.16
mg/l
0.32
64
526
72
638
2.45
1.66
8.5
5.6
2.31
2.74
mmol/l
3.02
66
590
7
27
2.74
1.55
3.9
3.3
—
—
—
0
0
27
179
1.77
1.51
3.7
2.7
—
—
—
0
0
7
28
2.64
1.49
1.0
1.5
—
—
—
0
0
9
42
2.29
1.39
6.4
6.8
87.89
93.07
%
—
9
42
44
340
1.66
1.38
5.5
3.6
0.00
0.00
estimate
-0.00
14
70
9
43
2.23
1.35
6.4
6.5
0.57
0.69
%
—
9
43
70
626
2.04
1.27
7.8
4.9
1.11
1.44
mmol/l
6.99
63
576
70
628
2.01
1.27
7.7
5.0
4.00
4.62
mmol/l
4.42
65
584
22
144
1.73
1.26
1.7
1.6
0.76
1.30
mg/l
0.50
17
110
69
611
2.02
1.25
7.1
5.0
6.73
5.93
mmol/l
1.45
64
564
38
289
1.61
1.23
4.5
2.7
—
—
estimate
—
0
0
69
612
2.01
1.23
6.0
4.2
2.09
1.28
mmol/l
2.34
64
560
25
171
1.68
1.23
4.2
2.8
—
0.33
—
0
6
35
262
1.60
1.21
4.7
3.6
0.00
0.03
estimate
0.49
12
60
0
33
0.00
1.19
0.0
3.2
—
1897.54
—
0
26
28
199
1.63
1.19
4.9
3.7
0.00
0.00
estimate
-0.00
15
63
28
201
1.61
1.13
4.2
2.4
—
—
—
0
0
15
91
1.80
1.10
1.1
1.3
—
—
—
0
0
9
45
2.13
1.09
8.4
5.8
7.39
7.42
ph
—
9
35
7
34
2.16
1.06
9.3
6.0
—
—
—
0
0
9
48
1.99
1.05
1.3
1.5
—
—
—
0
0
14
88
1.72
0.92
1.6
1.6
—
—
—
0
0
11
64
1.84
0.91
2.5
1.6
—
—
—
0
0
8
43
1.96
0.90
7.1
6.7
2.06
1.55
%
—
8
43
8
46
1.82
0.85
1.3
1.6
—
—
—
0
0
24
177
1.51
0.84
1.7
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.1
—
—
—
0
0
18
128
1.53
0.74
1.3
1.3
0.94
3.17
u/ml
—
5
40
5
26
1.98
0.72
1.6
1.7
—
—
—
0
0
11
70
1.66
0.69
1.9
2.9
0.18
0.21
g/l
0.56
11
64
20
148
1.47
0.68
3.4
6.6
—
—
—
0
0
33
272
1.37
0.62
5.0
3.2
—
—
—
0
0
24
190
1.38
0.57
4.2
2.8
0.00
0.04
estimate
0.49
11
56
6
40
1.54
0.53
2.3
3.3
—
—
—
0
0
7
45
1.61
0.50
1.0
1.3
—
—
—
0
0
8
58
1.42
0.43
1.3
1.5
—
—
—
0
0
9
66
1.41
0.40
1.6
1.4
—
—
—
0
0
5
35
1.46
0.40
3.0
2.1
—
—
—
0
0
15
118
1.33
0.37
2.1
1.4
2.49
2.79
g/l
—
9
71
10
75
1.38
0.32
2.7
1.5
—
—
—
0
0
7
55
1.30
0.31
9.7
3.7
—
—
—
0
0
0
11
0.00
0.21
0.0
5.1
—
19.73
—
0
11
0
11
0.00
0.21
0.0
1.9
—
0.41
—
0
11
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
6.95
—
0
10
0
10
0.00
0.21
0.0
1.1
—
177.29
—
0
10
10
81
1.27
0.20
1.2
1.3
—
—
—
0
0
5
66
0.74
0.17
1.4
1.5
—
—
—
0
0
6
76
0.77
0.16
4.2
5.3
2.68
6.69
ug/l
—
6
64
6
55
1.10
0.09
1.0
1.5
—
—
—
0
0
10
90
1.13
0.06
2.9
1.6
—
—
—
0
0
10
90
1.13
0.06
1.9
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
27.8
—
1198.83
—
0
6
0
6
0.00
-0.00
0.0
21.5
—
809.17
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
40.34
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
171.40
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
68
0.87
-0.00
1.5
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
4.90
—
0
9
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
82.80
—
0
5

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
loading spinner Loading data