Palmar fascial fibromatosis [Dupuytren]

M13_DUPUTRYEN

Plantar Fibromatosis: A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.

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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 M72.0
  • Hospital discharge: ICD-9 7286
  • Hospital discharge: ICD-8 7339
  • Cause of death: ICD-10 M72.0
  • Cause of death: ICD-9 7286
  • Cause of death: ICD-8 7339

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

6292

4. Check minimum number of events

None

6292

5. Include endpoints

None

6292

6. Filter based on genotype QC (FinnGen only)

6078

Control definitions (FinnGen only)

Control exclude M13_SOFTTISSUE

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M72
Name in latin Fibromatosis aponeurosis palmaris

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 52845 13652 38527
Only index persons 42616 11682 30934
Unadjusted period prevalence (%)
Whole population 0.89 0.39 1.08
Only index persons 0.97 0.43 1.18
Median age at first event (years)
Whole population 58.18 56.12 58.86
Only index persons 57.32 55.27 58.10

-FinnGen-

Key figures

All Female Male
Number of individuals 6078 1572 4506
Unadjusted period prevalence (%) 1.84 0.62 2.26
Median age at first event (years) 58.11 54.58 59.34

-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_DUPUTRYEN and mortality.

Females

Parameter HR [95% CI] p-value
M13_DUPUTRYEN 0.83 [0.75, 0.92] < 0.001
Birth year 0.996 [0.99, 1.0] 0.333

During the follow-up period (1.1.1998 — 31.12.2019), 940 out of 5710 females with M13_DUPUTRYEN died.

Males

Parameter HR [95% CI] p-value
M13_DUPUTRYEN 0.838 [0.78, 0.9] < 0.001
Birth year 0.991 [0.98, 1.0] 0.041

During the follow-up period (1.1.1998 — 31.12.2019), 4250 out of 20227 males with M13_DUPUTRYEN died.

Mortality risk

Mortality risk for people of age

years, who have M13_DUPUTRYEN.

N-year risk Females Males
1 0.058% 0.21%
5 0.493% 1.169%
10 1.307% 2.864%
15 2.54% 5.561%
20 4.56% 9.225%

Relationships between endpoints

Index endpoint: M13_DUPUTRYEN – Palmar fascial fibromatosis [Dupuytren]

GWS hits: 46

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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