Localized scleroderma [morphea]

L12_LOCALSCLERODERMA

localised scleroderma: Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.

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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 L94.0
  • Hospital discharge: ICD-9 7010A
  • Hospital discharge: ICD-8 70100
  • Cause of death: ICD-10 L94.0
  • Cause of death: ICD-9 7010A
  • Cause of death: ICD-8 70100

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

473

4. Check minimum number of events

None

473

5. Include endpoints

None

473

6. Filter based on genotype QC (FinnGen only)

450

Control definitions (FinnGen only)

Control exclude L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 L94
Name in latin Scleroderma circumscriptum

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 3160 2461 682
Only index persons 2953 2322 631
Unadjusted period prevalence (%)
Whole population 0.06 0.07 0.02
Only index persons 0.07 0.09 0.02
Median age at first event (years)
Whole population 52.33 54.73 43.53
Only index persons 51.81 54.19 43.06

-FinnGen-

Key figures

All Female Male
Number of individuals 450 372 78
Unadjusted period prevalence (%) 0.13 0.15 0.04
Median age at first event (years) 54.85 55.41 52.17

-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 L12_LOCALSCLERODERMA and mortality.

Females

Parameter HR [95% CI] p-value
L12_LOCALSCLERODERMA 1.057 [0.89, 1.26] 0.536
Birth year 0.991 [0.98, 1.0] 0.034

During the follow-up period (1.1.1998 — 31.12.2019), 207 out of 2016 females with L12_LOCALSCLERODERMA died.

Males

Parameter HR [95% CI] p-value
L12_LOCALSCLERODERMA 1.088 [0.8, 1.49] 0.599
Birth year 0.989 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 62 out of 560 males with L12_LOCALSCLERODERMA died.

Mortality risk

Mortality risk for people of age

years, who have L12_LOCALSCLERODERMA.

N-year risk Females Males
1 0.082% 0.212%
5 0.556% 1.342%
10 1.324% 3.33%
15 2.594% 6.147%
20 4.421% 10.464%

Relationships between endpoints

Index endpoint: L12_LOCALSCLERODERMA – Localized scleroderma [morphea]

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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