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Ankylosing spondylitis

DOID EFO Endpoint Browser PheWeb

M13_ANKYLOSPON

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

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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
  • Hospital discharge: ICD-9 — 7200
  • Hospital discharge: ICD-8 — 7124
  • Cause of death: ICD-10 — M45
  • Cause of death: ICD-9 — 7200
  • Cause of death: ICD-8 — 7124

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

3620

4. Check minimum number of events

None

3620

5. Include endpoints

None

3620

6. Filter based on genotype QC (FinnGen only)

3484

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 M45-M49
Name in latin Spondylarthritis/spondylitis ancylopoetica

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 24961 9911 14880
Only index persons 22689 9437 13252
Unadjusted period prevalence (%)
Whole population 0.36 0.28 0.42
Only index persons 0.44 0.35 0.51
Median age at first event (years)
Whole population 40.40 41.06 39.86
Only index persons 39.44 40.56 38.65

-FinnGen-

Key figures

All Female Male
Number of individuals 3484 1629 1855
Unadjusted period prevalence (%) 0.80 0.64 0.93
Median age at first event (years) 40.71 40.26 41.10

-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

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Association

Association between endpoint M13_ANKYLOSPON and mortality.

Females

Parameter HR [95% CI] p-value
M13_ANKYLOSPON 1.283 [1.13, 1.45] < 0.001
Birth year 0.993 [0.98, 1.0] 0.108

During the follow-up period (1.1.1998 — 31.12.2019), 527 out of 7425 females with M13_ANKYLOSPON died.

Males

Parameter HR [95% CI] p-value
M13_ANKYLOSPON 1.2 [1.09, 1.33] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 973 out of 9405 males with M13_ANKYLOSPON died.

Mortality risk

Mortality risk for people of age

years, who have M13_ANKYLOSPON.

N-year risk Females Males
1 0.102% 0.218%
5 0.717% 1.321%
10 1.856% 3.321%
15 3.453% 6.208%
20 5.925% 10.433%

Relationships between endpoints

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Index endpoint: M13_ANKYLOSPON – Ankylosing spondylitis

GWS hits: 17

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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