Corneal degeneration

H7_CORNEALDYSTROPHY

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 H18.4
  • Hospital discharge: ICD-9 3714
  • Hospital discharge: ICD-8 37101
  • Cause of death: ICD-10 H18.4
  • Cause of death: ICD-9 3714
  • Cause of death: ICD-8 37101

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

432

4. Check minimum number of events

None

432

5. Include endpoints

None

432

6. Filter based on genotype QC (FinnGen only)

421

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 Degeneratio corneae

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 3016 1902 1102
Only index persons 2762 1757 1005
Unadjusted period prevalence (%)
Whole population 0.05 0.05 0.03
Only index persons 0.06 0.06 0.04
Median age at first event (years)
Whole population 65.63 67.79 62.16
Only index persons 64.93 66.76 61.74

-FinnGen-

Key figures

All Female Male
Number of individuals 421 276 145
Unadjusted period prevalence (%) 0.10 0.11 0.07
Median age at first event (years) 63.77 62.20 66.78

-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

No data

Mortality – FinRegistry

Association

Association between endpoint H7_CORNEALDYSTROPHY and mortality.

Females

Parameter HR [95% CI] p-value
H7_CORNEALDYSTROPHY 1.201 [1.0, 1.44] 0.048
Birth year 0.994 [0.99, 1.0] 0.189

During the follow-up period (1.1.1998 — 31.12.2019), 286 out of 1316 females with H7_CORNEALDYSTROPHY died.

Males

Parameter HR [95% CI] p-value
H7_CORNEALDYSTROPHY 1.171 [0.91, 1.51] 0.228
Birth year 0.993 [0.98, 1.0] 0.137

During the follow-up period (1.1.1998 — 31.12.2019), 151 out of 781 males with H7_CORNEALDYSTROPHY died.

Mortality risk

Mortality risk for people of age

years, who have H7_CORNEALDYSTROPHY.

N-year risk Females Males
1 0.133% 0.305%
5 0.783% 1.513%
10 1.754% 3.959%
15 3.484% 7.537%
20 5.907% 13.452%

Relationships between endpoints

Index endpoint: H7_CORNEALDYSTROPHY – Corneal degeneration

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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