Spondylopathies

M13_SPONDYLOPATHY

ankylosing spondylitis: An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.

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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 M45-M49
  • Cause of death: ICD-10 M45-M49

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

45836

4. Check minimum number of events

None

45836

5. Include endpoints

48247

6. Filter based on genotype QC (FinnGen only)

46755

Control definitions (FinnGen only)

Control exclude M13_DORSOPATHY

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2

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 367998 193655 171564
Only index persons 317161 172034 145127
Unadjusted period prevalence (%)
Whole population 5.18 5.55 4.79
Only index persons 5.97 6.32 5.54
Median age at first event (years)
Whole population 59.70 61.03 58.17
Only index persons 58.75 60.04 57.22

-FinnGen-

Key figures

All Female Male
Number of individuals 46755 25149 21606
Unadjusted period prevalence (%) 10.33 9.88 10.85
Median age at first event (years) 58.58 57.91 59.37

-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_SPONDYLOPATHY and mortality.

Females

Parameter HR [95% CI] p-value
M13_SPONDYLOPATHY 1.088 [1.01, 1.18] 0.033
Birth year 0.995 [0.99, 1.0] 0.211

During the follow-up period (1.1.1998 — 31.12.2019), 26563 out of 141151 females with M13_SPONDYLOPATHY died.

Males

Parameter HR [95% CI] p-value
M13_SPONDYLOPATHY 1.173 [1.08, 1.28] < 0.001
Birth year 0.99 [0.98, 1.0] 0.019

During the follow-up period (1.1.1998 — 31.12.2019), 26315 out of 119872 males with M13_SPONDYLOPATHY died.

Mortality risk

Mortality risk for people of age

years, who have M13_SPONDYLOPATHY.

N-year risk Females Males
1 0.088% 0.208%
5 0.528% 1.417%
10 1.408% 3.544%
15 2.861% 6.609%
20 5.11% 11.056%

Relationships between endpoints

Index endpoint: M13_SPONDYLOPATHY – Spondylopathies

GWS hits: 30

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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