Ankylosing spondylitis, strict definition

M13_ANKYLOSPON_STRICT

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

  • M13_ANKYLOSPON_ICD10
3390

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 M45

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

1586

4. Check minimum number of events

None

1586

5. Include endpoints

None

1586

6. Filter based on genotype QC (FinnGen only)

1521

Control definitions (FinnGen only)

Control conditions not M13_ANKYLOSPON_ICD10

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF3

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 8672 3328 5319
Only index persons 8532 3302 5230
Unadjusted period prevalence (%)
Whole population 0.13 0.10 0.15
Only index persons 0.17 0.12 0.20
Median age at first event (years)
Whole population 37.75 38.28 37.43
Only index persons 37.70 38.29 37.33

-FinnGen-

Key figures

All Female Male
Number of individuals 1521 706 815
Unadjusted period prevalence (%) 0.35 0.28 0.41
Median age at first event (years) 39.28 38.35 40.08

-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_ANKYLOSPON_STRICT and mortality.

Females

Parameter HR [95% CI] p-value
M13_ANKYLOSPON_STRICT 0.709 [0.53, 0.95] 0.019
Birth year 0.993 [0.98, 1.0] 0.138

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 2980 females with M13_ANKYLOSPON_STRICT died.

Males

Parameter HR [95% CI] p-value
M13_ANKYLOSPON_STRICT 0.829 [0.71, 0.96] 0.015
Birth year 0.988 [0.98, 1.0] 0.014

During the follow-up period (1.1.1998 — 31.12.2019), 218 out of 4769 males with M13_ANKYLOSPON_STRICT died.

Mortality risk

Mortality risk for people of age

years, who have M13_ANKYLOSPON_STRICT.

N-year risk Females Males
1 0.071% 0.139%
5 0.43% 1.001%
10 1.008% 2.594%
15 1.862% 4.725%
20 3.295% 8.268%

Relationships between endpoints

Index endpoint: M13_ANKYLOSPON_STRICT – Ankylosing spondylitis, strict definition

GWS hits: 8

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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