Ptosis of eyelid

H7_PTOSIS

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 H02.4
  • Hospital discharge: ICD-9 3743A
  • Cause of death: ICD-10 H02.4
  • Cause of death: ICD-9 3743A

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

3588

4. Check minimum number of events

None

3588

5. Include endpoints

None

3588

6. Filter based on genotype QC (FinnGen only)

3479

Control definitions (FinnGen only)

Control exclude H7_LIDLACRIMALORBIT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H02
Name in latin Ptosis palpebrae

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 22188 13177 8939
Only index persons 20874 12492 8382
Unadjusted period prevalence (%)
Whole population 0.33 0.38 0.25
Only index persons 0.40 0.46 0.32
Median age at first event (years)
Whole population 66.32 66.36 66.26
Only index persons 66.07 66.04 66.12

-FinnGen-

Key figures

All Female Male
Number of individuals 3479 2028 1451
Unadjusted period prevalence (%) 0.77 0.80 0.73
Median age at first event (years) 65.15 63.78 67.06

-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 H7_PTOSIS and mortality.

Females

Parameter HR [95% CI] p-value
H7_PTOSIS 0.9 [0.81, 1.0] 0.044
Birth year 1.0 [0.99, 1.01] 0.9

During the follow-up period (1.1.1998 — 31.12.2019), 1753 out of 10835 females with H7_PTOSIS died.

Males

Parameter HR [95% CI] p-value
H7_PTOSIS 0.938 [0.83, 1.06] 0.314
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 1344 out of 7364 males with H7_PTOSIS died.

Mortality risk

Mortality risk for people of age

years, who have H7_PTOSIS.

N-year risk Females Males
1 0.09% 0.187%
5 0.484% 1.068%
10 1.328% 2.775%
15 2.607% 5.238%
20 4.892% 8.645%

Relationships between endpoints

Index endpoint: H7_PTOSIS – Ptosis of eyelid

GWS hits: 3

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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