systemic scleroderma: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
793 |
4. Check minimum number of eventsNone |
793 |
5. Include endpointsNone |
793 |
6. Filter based on genotype QC (FinnGen only) |
768 |
Control definitions (FinnGen only)
Control exclude
M13_SYSTCONNECT
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M30-M36
Name in latin
Sclerosis systemica
Similar endpoints
↥List of similar endpoints to
Systemic sclerosis
based on the number of shared cases.
Similar with more cases:
- Systemic sclerosis (FG)
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
- Autoimmune diseases
- Used for control exclusion in common control thyroid runs
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4561 | 3620 | 887 |
| Only index persons | 3885 | 3150 | 735 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.09 | 0.10 | 0.02 |
| Only index persons | 0.10 | 0.12 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 56.25 | 56.54 | 55.13 |
| Only index persons | 55.13 | 55.34 | 54.21 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 768 | 635 | 133 |
| Unadjusted period prevalence (%) | 0.22 | 0.25 | 0.07 |
| Median age at first event (years) | 55.16 | 55.14 | 55.27 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint M13_SYSTSLCE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_SYSTSLCE | 2.306 [2.03, 2.62] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.224 |
During the follow-up period (1.1.1998 — 31.12.2019), 615 out of 2768 females with M13_SYSTSLCE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_SYSTSLCE | 2.516 [2.0, 3.17] | < 0.001 |
| Birth year | 0.991 [0.98, 1.0] | 0.068 |
During the follow-up period (1.1.1998 — 31.12.2019), 197 out of 642 males with M13_SYSTSLCE died.
Mortality risk
Mortality risk for people of age
years, who have M13_SYSTSLCE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.252% | 0.559% |
| 5 | 1.311% | 3.123% |
| 10 | 3.181% | 8.172% |
| 15 | 6.414% | 15.352% |
| 20 | 11.51% | 24.944% |
Relationships between endpoints
↥Index endpoint: M13_SYSTSLCE – Systemic sclerosis
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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