Congenital deformities of hip

Q17_LVOTO_BROAD

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 Q24.4, Q25.1, Q25.20, Q25.3, Q25.40
  • Hospital discharge: ICD-9 7463A|7464A|7463D|7465A|7466A|7467A|7468X|7463X|7471A|7472B|7471B
  • Hospital discharge: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Hospital discharge: excluded ICD-9 758|7595|75683
  • Cause of death: ICD-10 Q24.4, Q25.1, Q25.20, Q25.3, Q25.40
  • Cause of death: ICD-9 7463A|7464A|7463D|7465A|7466A|7467A|7468X|7463X|7471A|7472B|7471B
  • Cause of death: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Cause of death: excluded ICD-9 758|7595|75683

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

470

4. Check minimum number of events

None

470

5. Include endpoints

3654

6. Filter based on genotype QC (FinnGen only)

3522

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF7

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 26025 8905 16988
Only index persons 22742 7864 14878
Unadjusted period prevalence (%)
Whole population 0.40 0.26 0.47
Only index persons 0.47 0.29 0.57
Median age at first event (years)
Whole population 48.76 48.28 48.99
Only index persons 49.44 49.25 49.53

-FinnGen-

Key figures

All Female Male
Number of individuals 3522 1278 2244
Unadjusted period prevalence (%) 0.90 0.50 1.13
Median age at first event (years) 51.70 50.94 52.14

-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 Q17_LVOTO_BROAD and mortality.

Females

Parameter HR [95% CI] p-value
Q17_LVOTO_BROAD 2.816 [2.48, 3.2] < 0.001
Birth year 0.993 [0.98, 1.0] 0.113

During the follow-up period (1.1.1998 — 31.12.2019), 723 out of 7117 females with Q17_LVOTO_BROAD died.

Males

Parameter HR [95% CI] p-value
Q17_LVOTO_BROAD 2.127 [1.95, 2.32] < 0.001
Birth year 0.988 [0.98, 1.0] 0.007

During the follow-up period (1.1.1998 — 31.12.2019), 2108 out of 13572 males with Q17_LVOTO_BROAD died.

Mortality risk

Mortality risk for people of age

years, who have Q17_LVOTO_BROAD.

N-year risk Females Males
1 0.296% 0.383%
5 1.631% 2.28%
10 3.766% 5.878%
15 6.847% 11.198%
20 12.257% 18.872%

Relationships between endpoints

Index endpoint: Q17_LVOTO_BROAD – Congenital deformities of hip

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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