Systemic connective tissue disorders

M13_SYSTCONNECT

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

14789

6. Filter based on genotype QC (FinnGen only)

14309

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 2
First used in FinnGen datafreeze DF2

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 114324 81358 32067
Only index persons 95641 69607 26034
Unadjusted period prevalence (%)
Whole population 1.92 2.33 0.90
Only index persons 2.13 2.56 0.99
Median age at first event (years)
Whole population 62.72 61.60 65.43
Only index persons 60.45 59.02 64.27

-FinnGen-

Key figures

All Female Male
Number of individuals 14309 10221 4088
Unadjusted period prevalence (%) 3.45 4.01 2.05
Median age at first event (years) 57.75 54.56 65.73

-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_SYSTCONNECT and mortality.

Females

Parameter HR [95% CI] p-value
M13_SYSTCONNECT 1.493 [1.38, 1.62] < 0.001
Birth year 0.993 [0.98, 1.0] 0.072

During the follow-up period (1.1.1998 — 31.12.2019), 15660 out of 61396 females with M13_SYSTCONNECT died.

Males

Parameter HR [95% CI] p-value
M13_SYSTCONNECT 1.513 [1.38, 1.66] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 7595 out of 23150 males with M13_SYSTCONNECT died.

Mortality risk

Mortality risk for people of age

years, who have M13_SYSTCONNECT.

N-year risk Females Males
1 0.101% 0.242%
5 0.823% 1.426%
10 2.123% 3.792%
15 3.918% 7.198%
20 6.719% 12.455%

Relationships between endpoints

Index endpoint: M13_SYSTCONNECT – Systemic connective tissue disorders

GWS hits: 11

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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