metabolic disease: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
109 |
4. Check minimum number of eventsNone |
109 |
5. Include endpointsNone |
109 |
6. Filter based on genotype QC (FinnGen only) |
109 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Metabolic disorder, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Other metabolic disorders
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1049 | 516 | 527 |
| Only index persons | 686 | 348 | 338 |
| 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 | 19.12 | 21.80 | 16.02 |
| Only index persons | 38.81 | 39.57 | 38.04 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 109 | 56 | 53 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 51.48 | 51.51 | 51.44 |
-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
- 94
- Matched controls
- 939
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
57.3
49
*
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
+∞
54.6
47
*
E88.0
ICD-10 Finland
Disorders of plasma-protein metabolism, not elsewhere classified
+∞
26.3
24
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.0
12.3
59
236
L28
ICPC
Limited function/disability (L)
5.5
8.7
27
64
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
6.8
8.3
21
38
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.4
8.2
22
43
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
9.4
8.0
16
20
R5140
NOMESCO Finland
Monitoring the use of the aid
7.2
7.9
19
32
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.9
7.9
39
143
ZXE00
NOMESCO Finland
One hour or less
3.5
7.7
53
254
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
9.7
7.7
15
18
R06.0
ICD-10 Finland
Dyspnoea
4.1
7.5
33
110
G47.3
ICD-10 Finland
Sleep apnoea
4.3
7.5
30
92
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
7.4
7
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
10.1
7.4
14
16
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.7
7.2
18
32
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.9
7.2
24
61
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
15.3
7.1
11
8
TAB00
NOMESCO Finland
Lumbar puncture
10.6
7.0
13
14
JN3AD
NOMESCO Finland
Abdominal CT examination
8.3
7.0
15
21
EBA15
NOMESCO Finland
Extraction of large number of teeth
18.4
6.9
10
6
Z31.5
ICD-10 Finland
Genetic counselling
8.4
6.7
14
19
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
6.9
6.7
16
27
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.8
6.6
30
103
J45.9
ICD-10 Finland
Asthma, unspecified
4.0
6.5
27
85
JN3BD
NOMESCO Finland
Extensive abdominal CT
6.0
6.4
17
33
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
19.7
6.4
9
5
127
Kela drug reimbursment
Transplant complication
28.8
6.3
8
*
J01MA12
ATC
levofloxacin; systemic
4.0
6.3
26
81
Z94.4
ICD-10 Finland
Liver transplant status
+∞
6.3
6
*
R4110
NOMESCO Finland
Physiotherapy
3.4
6.2
35
139
Z3231
NOMESCO Finland
Registered nurse
3.2
6.1
38
163
Mortality – FinRegistry
↥Association
Association between endpoint E4_METABONAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABONAS | 3.691 [2.35, 5.8] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.251 |
During the follow-up period (1.1.1998 — 31.12.2019), 69 out of 330 females with E4_METABONAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABONAS | 4.79 [3.22, 7.12] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 316 males with E4_METABONAS died.
Mortality risk
Mortality risk for people of age
years, who have E4_METABONAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.407% | 0.844% |
| 5 | 2.113% | 5.355% |
| 10 | 5.119% | 12.316% |
| 15 | 10.336% | 21.695% |
| 20 | 17.406% | 33.78% |
Relationships between endpoints
↥Index endpoint: E4_METABONAS – Metabolic disorder, other/unspecified
GWS hits: 1
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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