Ankylosing hyperostosis [Forestier]

M13_FORESTIER

diffuse idiopathic skeletal hyperostosis: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.

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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 M48.1
  • Hospital discharge: ICD-9 7216
  • Cause of death: ICD-10 M48.1
  • Cause of death: ICD-9 7216

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

430

4. Check minimum number of events

None

430

5. Include endpoints

None

430

6. Filter based on genotype QC (FinnGen only)

412

Control definitions (FinnGen only)

Control exclude M13_DORSOPATHY

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M48
Name in latin Hyperostosis ancylopoetica

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 3079 1249 1805
Only index persons 2836 1179 1657
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.05
Only index persons 0.05 0.04 0.06
Median age at first event (years)
Whole population 58.00 58.94 57.26
Only index persons 57.53 58.39 56.92

-FinnGen-

Key figures

All Female Male
Number of individuals 412 167 245
Unadjusted period prevalence (%) 0.10 0.07 0.12
Median age at first event (years) 57.71 56.78 58.35

-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_FORESTIER and mortality.

Females

Parameter HR [95% CI] p-value
M13_FORESTIER 1.208 [1.03, 1.42] 0.021
Birth year 0.99 [0.98, 1.0] 0.023

During the follow-up period (1.1.1998 — 31.12.2019), 210 out of 1048 females with M13_FORESTIER died.

Males

Parameter HR [95% CI] p-value
M13_FORESTIER 1.194 [1.04, 1.37] 0.012
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 338 out of 1527 males with M13_FORESTIER died.

Mortality risk

Mortality risk for people of age

years, who have M13_FORESTIER.

N-year risk Females Males
1 0.069% 0.213%
5 0.511% 1.204%
10 1.405% 3.308%
15 2.672% 6.12%
20 4.768% 10.485%

Relationships between endpoints

Index endpoint: M13_FORESTIER – Ankylosing hyperostosis [Forestier]

GWS hits: 1

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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