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Other specified/unspecified deforming dorsopathies

EFO MESH Endpoint Browser PheWeb

M13_DEFORMDORSONAS

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 — M43.8, M43.9
  • Hospital discharge: ICD-9 — 732[8-9]|737[8-9]
  • Hospital discharge: ICD-8 — 735
  • Cause of death: ICD-10 — M43.8, M43.9
  • Cause of death: ICD-9 — 732[8-9]|737[8-9]
  • Cause of death: ICD-8 — 735

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

658

4. Check minimum number of events

None

658

5. Include endpoints

None

658

6. Filter based on genotype QC (FinnGen only)

633

Control definitions (FinnGen only)

Control exclude M13_DORSOPATHY

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 6805 4430 2315
Only index persons 5608 3751 1857
Unadjusted period prevalence (%)
Whole population 0.11 0.13 0.06
Only index persons 0.12 0.14 0.07
Median age at first event (years)
Whole population 27.44 27.05 27.44
Only index persons 20.06 19.14 21.92

-FinnGen-

Key figures

All Female Male
Number of individuals 633 461 172
Unadjusted period prevalence (%) 0.16 0.18 0.09
Median age at first event (years) 20.74 17.16 30.34

-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

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Association

Association between endpoint M13_DEFORMDORSONAS and mortality.

Females

Parameter HR [95% CI] p-value
M13_DEFORMDORSONAS 1.568 [1.23, 2.0] < 0.001
Birth year 0.997 [0.99, 1.01] 0.519

During the follow-up period (1.1.1998 — 31.12.2019), 118 out of 546 females with M13_DEFORMDORSONAS died.

Males

Parameter HR [95% CI] p-value
M13_DEFORMDORSONAS 1.136 [0.78, 1.64] 0.5
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 373 males with M13_DEFORMDORSONAS died.

Mortality risk

Mortality risk for people of age

years, who have M13_DEFORMDORSONAS.

N-year risk Females Males
1 0.184% 0.208%
5 1.08% 1.234%
10 2.375% 3.06%
15 4.839% 5.699%
20 8.709% 9.628%

Relationships between endpoints

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Index endpoint: M13_DEFORMDORSONAS – Other specified/unspecified deforming dorsopathies

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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