scleroderma: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditions
|
867 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
1 out of 7 registries used, show all original rules. |
323 |
4. Check minimum number of eventsNone |
323 |
5. Include endpointsNone |
323 |
6. Filter based on genotype QC (FinnGen only) |
323 |
Control definitions (FinnGen only)
- Control conditions
- not SYSTSCLE_ICD10
Extra metadata
- First used in FinnGen datafreeze
- DF3
Similar endpoints
↥List of similar endpoints to
Systemic sclerosis,strict definition
based on the number of shared cases.
Similar with more cases:
- Systemic sclerosis, icd10
- Systemic sclerosis (FG)
- Systemic sclerosis
- Systemic connective tissue disorders
- Reimbursement for rheumatic diseases
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1154 | 971 | 174 |
| Only index persons | 1108 | 946 | 162 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.03 | 0.00 |
| Only index persons | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 56.01 | 56.13 | 55.70 |
| Only index persons | 55.73 | 55.79 | 55.39 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 323 | 280 | 43 |
| Unadjusted period prevalence (%) | 0.09 | 0.10 | 0.02 |
| Median age at first event (years) | 54.65 | 54.38 | 56.42 |
-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
- 270
- Matched controls
- 2700
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
+∞
264.0
270
173
M34.1
ICD-10 Finland
CR(E)ST syndrome
+∞
247.7
198
*
P01BA02
ATC
hydroxychloroquine; oral
45.5
139.6
183
119
M34.9
ICD-10 Finland
Systemic sclerosis, unspecified
2201.8
138.1
122
*
C08CA05
ATC
nifedipine; systemic
55.3
129.1
155
64
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
27.2
110.1
169
156
I73.0
ICD-10 Finland
Raynaud syndrome
73.1
79.7
89
18
XX9XE
NOMESCO Finland
Other ultrasound examination
121.8
68.9
72
8
M34.0
ICD-10 Finland
Progressive systemic sclerosis
+∞
55.1
51
*
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
12.1
48.9
97
119
XPX04
NOMESCO Finland
Angioscopy
106.9
48.8
52
6
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
10.8
44.6
94
127
M35.9
ICD-10 Finland
Systemic involvement of connective tissue, unspecified
49.1
43.5
52
13
GD1AA
NOMESCO Finland
Thorax X-ray examination
6.3
43.3
190
736
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
6.2
41.7
157
495
L04AA06
ATC
mycophenolic acid; systemic
29.7
40.8
55
23
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
17.1
39.9
65
49
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
15.3
39.1
67
57
QC6S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in hand
206.7
35.7
36
*
M34.8
ICD-10 Finland
Other forms of systemic sclerosis
+∞
35.2
33
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
5.6
31.8
112
301
L04AX01
ATC
azathioprine; systemic
12.1
27.8
52
52
L88
ICPC
Rheumatoid/seropositive arthritis
12.2
26.4
49
48
XQ841
NOMESCO Finland
Examination of dermatosis with microscope
143.2
25.1
26
*
XG410
NOMESCO Finland
Flow-volume spirometry
12.6
23.7
43
40
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
17.3
22.2
35
23
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
12.5
21.5
39
36
G04BE03
ATC
sildenafil; oral
39.1
20.2
25
7
NF1AE
NOMESCO Finland
Hip joint ultrasound examination
10.5
20.2
40
44
C08CA02
ATC
felodipine; oral
6.1
19.9
58
116
H02AB06
ATC
prednisolone; systemic
3.3
19.8
172
929
L94.0
ICD-10 Finland
Localized scleroderma [morphea]
32.7
18.7
24
8
C08CA01
ATC
amlodipine; oral
3.3
17.6
121
537
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.1
17.4
137
667
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
4.9
17.0
60
149
TNX10
NOMESCO Finland
Arthrocentesis, unspecified region, unspecified region
5.8
16.6
49
99
NH3EA
NOMESCO Finland
Feet X-ray examination with load
14.1
16.6
28
22
L04AD01
ATC
ciclosporin; systemic
16.8
16.6
26
17
ND2DA
NOMESCO Finland
Bilateral hand X-ray examination
13.4
16.3
28
23
J99.1*M34.8
ICD-10 Finland
Respiratory disorders in systemic: sclerosis
+∞
14.7
14
*
M34
ICD-10 Finland
Systemic sclerosis
+∞
14.7
14
*
R4120
NOMESCO Finland
Occupational therapy
5.4
14.0
43
91
K44.9
ICD-10 Finland
Diaphragmatic hernia without obstruction or gangrene
5.0
13.6
45
103
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
27.4
13.5
18
7
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.6
13.5
49
124
L01BA01
ATC
methotrexate; systemic (folic acid analog.)
8.8
13.2
28
35
WZA10
NOMESCO Finland
Long statement of health and health related matters
15.1
13.0
21
15
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
15.1
13.0
21
15
RT172
NOMESCO Finland
NA
73.4
12.7
14
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.2
12.7
50
137
RT160
NOMESCO Finland
NA
136.1
12.5
13
*
I27.2
ICD-10 Finland
Other secondary pulmonary hypertension
136.1
12.5
13
*
NH3DA
NOMESCO Finland
Bilateral foot X-ray examination
9.9
11.8
23
25
M35.1
ICD-10 Finland
Other overlap syndromes
68.0
11.7
13
*
E0000UV
ATC
NA
2.5
11.7
142
833
RT274
NOMESCO Finland
NA
62.5
10.7
12
*
C02KX01
ATC
bosentan; oral
114.3
10.5
11
*
ND2BA
NOMESCO Finland
Hand and fingers extensive X-ray examination
8.0
10.4
23
31
C02KX04
ATC
macitentan; oral
41.7
10.0
12
*
K22.4
ICD-10 Finland
Dyskinesia of oesophagus
27.2
9.9
13
5
NG1AE
NOMESCO Finland
Knee joint ultrasound exmination
12.0
9.7
17
15
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.0
9.6
60
234
RT272
NOMESCO Finland
NA
103.5
9.5
10
*
NB1AE
NOMESCO Finland
Shoulder ultrasound examination
14.4
9.3
15
11
L04AA01
ATC
[U] ciclosporin; systemic
13.2
9.0
15
12
A02BC02
ATC
pantoprazole; systemic
2.3
8.7
193
1421
J84.9
ICD-10 Finland
Interstitial pulmonary disease, unspecified
10.5
8.6
16
16
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
2.2
8.6
135
850
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
3.9
8.6
35
99
GD1AD
NOMESCO Finland
Thorax CT examination
5.9
8.5
23
42
RT271
NOMESCO Finland
NA
92.8
8.5
9
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
3.8
8.4
36
106
G73.7*M34.8
ICD-10 Finland
Myopathy in scleroderma
+∞
8.4
8
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.9
8.4
34
96
R06.0
ICD-10 Finland
Dyspnoea
2.4
8.2
80
403
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
3.9
8.1
33
93
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
4.7
7.9
26
60
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
7.6
58
253
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
4.2
7.4
27
69
M35.0
ICD-10 Finland
Sicca syndrome [Sjögren]
8.8
7.4
15
18
SPAT1263
SPAT
Sampling
2.1
7.4
125
798
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.0
7.4
131
852
RT231
NOMESCO Finland
NA
+∞
7.3
7
*
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
11.3
6.9
12
11
I27.0
ICD-10 Finland
Primary pulmonary hypertension
41.1
6.8
8
*
A02BC05
ATC
esomeprazole; systemic
2.0
6.6
131
879
L03.0
ICD-10 Finland
Cellulitis of finger and toe
3.2
6.5
33
112
Z01.8
ICD-10 Finland
Other specified special examinations
2.2
6.5
77
417
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
6.8
6.4
15
23
UJF32
NOMESCO Finland
Coloscopy
2.1
6.3
81
455
M35.8
ICD-10 Finland
Other specified systemic involvement of connective tissue
+∞
6.3
6
*
XQ860
NOMESCO Finland
Laser Doppler measurement/scan of capillary perfusion
+∞
6.3
6
*
L94.3
ICD-10 Finland
Sclerodactyly
+∞
6.3
6
*
K62.3
ICD-10 Finland
Rectal prolapse
8.9
6.1
12
14
Mortality – FinRegistry
↥Association
Association between endpoint SYSTSCLE_STRICT and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| SYSTSCLE_STRICT | 2.104 [1.69, 2.63] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.582 |
During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 823 females with SYSTSCLE_STRICT died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have SYSTSCLE_STRICT.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.201% | No data |
| 5 | 1.155% | No data |
| 10 | 3.086% | No data |
| 15 | 6.121% | No data |
| 20 | 10.651% | No data |
Relationships between endpoints
↥Index endpoint: SYSTSCLE_STRICT – Systemic sclerosis,strict definition
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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