CR(E)ST syndrome

CREST

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 M34.1
  • Cause of death: ICD-10 M34.1

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

479

4. Check minimum number of events

None

479

5. Include endpoints

None

479

6. Filter based on genotype QC (FinnGen only)

461

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF2
Parent code in ICD-10 M34
Name in latin Syndroma CREST

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 2272 1946 313
Only index persons 2112 1834 278
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.01
Only index persons 0.06 0.07 0.01
Median age at first event (years)
Whole population 58.34 58.28 59.14
Only index persons 57.94 57.80 58.89

-FinnGen-

Key figures

All Female Male
Number of individuals 461 405 56
Unadjusted period prevalence (%) 0.14 0.16 0.03
Median age at first event (years) 57.24 57.44 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 CREST and mortality.

Females

Parameter HR [95% CI] p-value
CREST 2.418 [2.09, 2.8] < 0.001
Birth year 0.992 [0.98, 1.0] 0.062

During the follow-up period (1.1.1998 — 31.12.2019), 370 out of 1714 females with CREST died.

Males

Parameter HR [95% CI] p-value
CREST 2.657 [1.86, 3.8] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 263 males with CREST died.

Mortality risk

Mortality risk for people of age

years, who have CREST.

N-year risk Females Males
1 0.263% 0.492%
5 1.279% 3.229%
10 3.077% 7.7%
15 6.036% 14.045%
20 10.835% 23.099%

Relationships between endpoints

Index endpoint: CREST – CR(E)ST syndrome

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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