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Dystonia

DOID EFO Endpoint Browser PheWeb

G6_DYSTON

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 — G24
  • Hospital discharge: ICD-9 — 3336
  • Hospital discharge: ICD-8 — 33100
  • Cause of death: ICD-10 — G24
  • Cause of death: ICD-9 — 3336
  • Cause of death: ICD-8 — 33100

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

1883

4. Check minimum number of events

None

1883

5. Include endpoints

None

1883

6. Filter based on genotype QC (FinnGen only)

1830

Control definitions (FinnGen only)

Control exclude G6_XTRAPYR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G20-G26
Name in latin Dystonia muscularis

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 15846 9900 5874
Only index persons 14517 9295 5222
Unadjusted period prevalence (%)
Whole population 0.24 0.28 0.16
Only index persons 0.29 0.34 0.20
Median age at first event (years)
Whole population 50.85 52.83 47.52
Only index persons 51.18 52.81 48.27

-FinnGen-

Key figures

All Female Male
Number of individuals 1830 1303 527
Unadjusted period prevalence (%) 0.44 0.51 0.26
Median age at first event (years) 53.32 52.43 55.53

-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 G6_DYSTON and mortality.

Females

Parameter HR [95% CI] p-value
G6_DYSTON 1.359 [1.22, 1.51] < 0.001
Birth year 0.994 [0.99, 1.0] 0.159

During the follow-up period (1.1.1998 — 31.12.2019), 1215 out of 8826 females with G6_DYSTON died.

Males

Parameter HR [95% CI] p-value
G6_DYSTON 1.516 [1.35, 1.7] < 0.001
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 866 out of 5233 males with G6_DYSTON died.

Mortality risk

Mortality risk for people of age

years, who have G6_DYSTON.

N-year risk Females Males
1 0.147% 0.251%
5 0.803% 1.471%
10 1.908% 3.745%
15 3.678% 7.496%
20 6.392% 12.402%

Relationships between endpoints

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Index endpoint: G6_DYSTON – Dystonia

GWS hits: 1

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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