Systemic disorders of connective tissue in diseases classified elsewhere

M13_SYSTCONINOTH

connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 M36*
  • Cause of death: ICD-10 M36*

2 out of 7 registries used, show all original rules.

128

4. Check minimum number of events

None

128

5. Include endpoints

None

128

6. Filter based on genotype QC (FinnGen only)

127

Control definitions (FinnGen only)

Control exclude M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Similar endpoints

List of similar endpoints to Systemic disorders of connective tissue in diseases classified elsewhere based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1422 617 803
Only index persons 1167 513 654
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 25.39 30.73 21.29
Only index persons 30.58 35.25 26.92

-FinnGen-

Key figures

All Female Male
Number of individuals 127 64 63
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 49.87 52.56 47.13

-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_SYSTCONINOTH and mortality.

Females

Parameter HR [95% CI] p-value
M13_SYSTCONINOTH 5.224 [3.7, 7.37] < 0.001
Birth year 0.991 [0.98, 1.0] 0.051

During the follow-up period (1.1.1998 — 31.12.2019), 126 out of 560 females with M13_SYSTCONINOTH died.

Males

Parameter HR [95% CI] p-value
M13_SYSTCONINOTH 3.748 [2.61, 5.38] < 0.001
Birth year 0.987 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 135 out of 723 males with M13_SYSTCONINOTH died.

Mortality risk

Mortality risk for people of age

years, who have M13_SYSTCONINOTH.

N-year risk Females Males
1 0.508% 0.623%
5 2.696% 4.136%
10 6.368% 10.073%
15 12.205% 18.83%
20 21.608% 30.435%

Relationships between endpoints

Index endpoint: M13_SYSTCONINOTH – Systemic disorders of connective tissue in diseases classified elsewhere

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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