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Keratoconus

DOID EFO Endpoint Browser PheWeb

H7_CORNEALDEFORM

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 — H18.6
  • Hospital discharge: ICD-9 — 3716
  • Hospital discharge: ICD-8 — 37103
  • Cause of death: ICD-10 — H18.6
  • Cause of death: ICD-9 — 3716
  • Cause of death: ICD-8 — 37103

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

838

4. Check minimum number of events

None

838

5. Include endpoints

None

838

6. Filter based on genotype QC (FinnGen only)

793

Control definitions (FinnGen only)

Control exclude H7_SCLERACORNEA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H18
Name in latin Keratoconus

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 7756 2530 5162
Only index persons 7472 2441 5031
Unadjusted period prevalence (%)
Whole population 0.12 0.07 0.14
Only index persons 0.16 0.09 0.19
Median age at first event (years)
Whole population 36.99 41.37 34.91
Only index persons 36.87 41.09 34.82

-FinnGen-

Key figures

All Female Male
Number of individuals 793 343 450
Unadjusted period prevalence (%) 0.19 0.13 0.23
Median age at first event (years) 40.72 42.96 39.01

-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_CORNEALDEFORM and mortality.

Females

Parameter HR [95% CI] p-value
H7_CORNEALDEFORM 1.128 [0.92, 1.38] 0.242
Birth year 0.996 [0.99, 1.0] 0.321

During the follow-up period (1.1.1998 — 31.12.2019), 140 out of 1933 females with H7_CORNEALDEFORM died.

Males

Parameter HR [95% CI] p-value
H7_CORNEALDEFORM 1.021 [0.86, 1.21] 0.808
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 189 out of 4002 males with H7_CORNEALDEFORM died.

Mortality risk

Mortality risk for people of age

years, who have H7_CORNEALDEFORM.

N-year risk Females Males
1 0.109% 0.207%
5 0.733% 1.187%
10 1.729% 2.947%
15 3.295% 5.608%
20 5.82% 9.48%

Relationships between endpoints

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Index endpoint: H7_CORNEALDEFORM – Keratoconus

GWS hits: 6

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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