Paget disease

M13_PAGET

osteitis deformans: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.

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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 M88
  • Hospital discharge: ICD-9 7310
  • Hospital discharge: ICD-8 72199
  • Cause of death: ICD-10 M88
  • Cause of death: ICD-9 7310
  • Cause of death: ICD-8 72199

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

155

4. Check minimum number of events

None

155

5. Include endpoints

None

155

6. Filter based on genotype QC (FinnGen only)

149

Control definitions (FinnGen only)

Control exclude M13_OSTEOCHONDRO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M86-M90
Name in latin Osteitis deformans Paget

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 1125 513 598
Only index persons 891 427 464
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 66.25 66.30 66.15
Only index persons 64.97 63.99 65.87

-FinnGen-

Key figures

All Female Male
Number of individuals 149 60 89
Unadjusted period prevalence (%) 0.04 0.02 0.04
Median age at first event (years) 65.96 65.73 66.12

-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_PAGET and mortality.

Females

Parameter HR [95% CI] p-value
M13_PAGET 1.012 [0.76, 1.35] 0.938
Birth year 0.999 [0.99, 1.01] 0.783

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 317 females with M13_PAGET died.

Males

Parameter HR [95% CI] p-value
M13_PAGET 1.119 [0.88, 1.43] 0.362
Birth year 0.99 [0.98, 1.0] 0.027

During the follow-up period (1.1.1998 — 31.12.2019), 132 out of 382 males with M13_PAGET died.

Mortality risk

Mortality risk for people of age

years, who have M13_PAGET.

N-year risk Females Males
1 0.097% 0.261%
5 0.632% 1.405%
10 1.7% 3.576%
15 3.327% 6.476%
20 6.058% 11.352%

Relationships between endpoints

Index endpoint: M13_PAGET – Paget disease

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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