Lipoprotein deficiency

E4_LIPODEF

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 E78.6
  • 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.

73

4. Check minimum number of events

None

73

5. Include endpoints

None

73

6. Filter based on genotype QC (FinnGen only)

73

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 73 23 50
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 60.76 60.01 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 (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
66
Matched controls
658
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E78.63
ICD-10 Finland
Low HDL syndrome
+∞
45.0
38
*
E78.69
ICD-10 Finland
Lipoprotein deficiency, other or unspecified
+∞
11.8
11
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
9.8
9.7
20
28
C07AB07
ATC
bisoprolol; oral
5.1
8.9
45
195
E78.6
ICD-10 Finland
Lipoprotein deficiency
+∞
8.5
8
*
E87.6
ICD-10 Finland
Hypokalaemia
+∞
8.5
8
*
C10AA05
ATC
atorvastatin; oral
4.8
8.5
40
160
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
51.3
7.9
9
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
5.1
7.8
28
83
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
89.8
7.6
8
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
14.3
7.4
12
10
I10
ICD-10 Finland
Essential (primary) hypertension
4.4
7.0
51
286
T90
ICPC
Diabetes non-insulin dependent
4.5
6.6
26
83
E78.61
ICD-10 Finland
Abetalipoproteinaemia
+∞
6.3
6
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.7
6.1
40
194

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