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Entropion and trichiasis of eyelid

DOID EFO Endpoint Browser PheWeb

H7_ENTROPION

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 — H02.0
  • Hospital discharge: ICD-9 — 3740
  • Hospital discharge: ICD-8 — 37812
  • Cause of death: ICD-10 — H02.0
  • Cause of death: ICD-9 — 3740
  • Cause of death: ICD-8 — 37812

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

2910

4. Check minimum number of events

None

2910

5. Include endpoints

None

2910

6. Filter based on genotype QC (FinnGen only)

2819

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 Entropium et trichiasis (palpebrae)

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 26534 13958 12388
Only index persons 22231 11883 10348
Unadjusted period prevalence (%)
Whole population 0.37 0.40 0.35
Only index persons 0.42 0.44 0.40
Median age at first event (years)
Whole population 73.83 75.11 72.37
Only index persons 73.56 74.75 72.19

-FinnGen-

Key figures

All Female Male
Number of individuals 2819 1202 1617
Unadjusted period prevalence (%) 0.67 0.47 0.81
Median age at first event (years) 71.98 70.69 72.94

-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 H7_ENTROPION and mortality.

Females

Parameter HR [95% CI] p-value
H7_ENTROPION 1.068 [0.99, 1.16] 0.109
Birth year 0.996 [0.99, 1.0] 0.329

During the follow-up period (1.1.1998 — 31.12.2019), 4394 out of 11267 females with H7_ENTROPION died.

Males

Parameter HR [95% CI] p-value
H7_ENTROPION 1.164 [1.05, 1.28] 0.003
Birth year 0.988 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 3918 out of 9794 males with H7_ENTROPION died.

Mortality risk

Mortality risk for people of age

years, who have H7_ENTROPION.

N-year risk Females Males
1 0.093% 0.227%
5 0.615% 1.352%
10 1.589% 3.398%
15 3.022% 6.613%
20 5.307% 11.052%

Relationships between endpoints

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Index endpoint: H7_ENTROPION – Entropion and trichiasis of eyelid

GWS hits: 5

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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