No definition available.
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. |
1819 |
4. Check minimum number of eventsNone |
1819 |
5. Include endpoints |
2271 |
6. Filter based on genotype QC (FinnGen only) |
2190 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF7
Similar endpoints
↥List of similar endpoints to
Mixed connective tissue disease
based on the number of shared cases.
Similar with more cases:
- Other systemic involvement of connective tissue (FG)
- Other systemic involvement of connective tissue
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
- Autoimmune diseases
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 14204 | 11040 | 3044 |
| Only index persons | 12490 | 9991 | 2499 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.27 | 0.32 | 0.09 |
| Only index persons | 0.31 | 0.37 | 0.10 |
| Median age at first event (years) | |||
| Whole population | 54.56 | 53.37 | 58.70 |
| Only index persons | 52.81 | 51.86 | 56.64 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 2190 | 1755 | 435 |
| Unadjusted period prevalence (%) | 0.60 | 0.69 | 0.22 |
| Median age at first event (years) | 51.86 | 50.14 | 58.79 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint M13_MCTD and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_MCTD | 1.667 [1.52, 1.83] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.294 |
During the follow-up period (1.1.1998 — 31.12.2019), 1763 out of 9083 females with M13_MCTD died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| M13_MCTD | 1.845 [1.6, 2.12] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 789 out of 2361 males with M13_MCTD died.
Mortality risk
Mortality risk for people of age
years, who have M13_MCTD.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.185% | 0.328% |
| 5 | 0.883% | 2.007% |
| 10 | 2.493% | 5.008% |
| 15 | 4.925% | 9.315% |
| 20 | 8.356% | 15.147% |
Relationships between endpoints
↥Index endpoint: M13_MCTD – Mixed connective tissue disease
GWS hits: 3
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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