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 |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditions
|
780 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
1 out of 7 registries used, show all original rules. |
270 |
4. Check minimum number of eventsNone |
270 |
5. Include endpointsNone |
270 |
6. Filter based on genotype QC (FinnGen only) |
262 |
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
- KELA_REIMBURSEMENT_202
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 | 262 | 228 | 34 |
| Unadjusted period prevalence (%) | 0.08 | 0.09 | 0.02 |
| Median age at first event (years) | 54.50 | 54.30 | 55.77 |
-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 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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