Deforming dorsopathies

M13_DEFORMDORSO

scoliosis: A congenital or acquired spinal deformity characterized by lateral curvature of 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 M40-M43
  • Cause of death: ICD-10 M40-M43

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

11407

4. Check minimum number of events

None

11407

5. Include endpoints

12377

6. Filter based on genotype QC (FinnGen only)

12009

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 109109 65971 42793
Only index persons 102194 62488 39706
Unadjusted period prevalence (%)
Whole population 1.61 1.89 1.20
Only index persons 1.99 2.30 1.52
Median age at first event (years)
Whole population 42.90 46.02 38.00
Only index persons 42.54 45.62 37.70

-FinnGen-

Key figures

All Female Male
Number of individuals 12009 8083 3926
Unadjusted period prevalence (%) 2.78 3.17 1.97
Median age at first event (years) 52.97 52.86 53.20

-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_DEFORMDORSO and mortality.

Females

Parameter HR [95% CI] p-value
M13_DEFORMDORSO 1.14 [1.03, 1.26] 0.013
Birth year 0.992 [0.98, 1.0] 0.059

During the follow-up period (1.1.1998 — 31.12.2019), 4730 out of 50792 females with M13_DEFORMDORSO died.

Males

Parameter HR [95% CI] p-value
M13_DEFORMDORSO 1.232 [1.11, 1.36] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 3505 out of 32754 males with M13_DEFORMDORSO died.

Mortality risk

Mortality risk for people of age

years, who have M13_DEFORMDORSO.

N-year risk Females Males
1 0.083% 0.192%
5 0.514% 1.413%
10 1.375% 3.577%
15 2.801% 6.546%
20 5.078% 11.361%

Relationships between endpoints

Index endpoint: M13_DEFORMDORSO – Deforming dorsopathies

GWS hits: 2

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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