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Hereditary corneal dystrophies

DOID EFO Endpoint Browser PheWeb

H7_KERATOCONUS

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 — H18.5
  • Hospital discharge: ICD-9 — 3715
  • Hospital discharge: ICD-8 — 37102
  • Cause of death: ICD-10 — H18.5
  • Cause of death: ICD-9 — 3715
  • Cause of death: ICD-8 — 37102

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

952

4. Check minimum number of events

None

952

5. Include endpoints

None

952

6. Filter based on genotype QC (FinnGen only)

920

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 Dystrophia corneae hereditaria

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 6239 4234 1985
Only index persons 5832 3982 1850
Unadjusted period prevalence (%)
Whole population 0.10 0.12 0.06
Only index persons 0.12 0.15 0.07
Median age at first event (years)
Whole population 66.92 68.44 63.65
Only index persons 66.40 67.91 63.14

-FinnGen-

Key figures

All Female Male
Number of individuals 920 619 301
Unadjusted period prevalence (%) 0.21 0.24 0.15
Median age at first event (years) 64.96 63.70 67.54

-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_KERATOCONUS and mortality.

Females

Parameter HR [95% CI] p-value
H7_KERATOCONUS 0.924 [0.81, 1.05] 0.231
Birth year 0.998 [0.99, 1.01] 0.592

During the follow-up period (1.1.1998 — 31.12.2019), 527 out of 3224 females with H7_KERATOCONUS died.

Males

Parameter HR [95% CI] p-value
H7_KERATOCONUS 0.883 [0.73, 1.07] 0.197
Birth year 0.988 [0.98, 1.0] 0.014

During the follow-up period (1.1.1998 — 31.12.2019), 245 out of 1522 males with H7_KERATOCONUS died.

Mortality risk

Mortality risk for people of age

years, who have H7_KERATOCONUS.

N-year risk Females Males
1 0.09% 0.166%
5 0.582% 1.079%
10 1.379% 2.724%
15 2.655% 5.079%
20 4.734% 8.566%

Relationships between endpoints

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Index endpoint: H7_KERATOCONUS – Hereditary corneal dystrophies

GWS hits: 9

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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