Peripheral retinal degeneration

H7_PERIPHRETINADEGEN

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 H35.4
  • Hospital discharge: ICD-9 3626
  • Hospital discharge: ICD-8 37711
  • Cause of death: ICD-10 H35.4
  • Cause of death: ICD-9 3626
  • Cause of death: ICD-8 37711

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

1039

4. Check minimum number of events

None

1039

5. Include endpoints

None

1039

6. Filter based on genotype QC (FinnGen only)

999

Control definitions (FinnGen only)

Control exclude H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H35
Name in latin Degeneratio peripherica retinae

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 8552 5217 3289
Only index persons 7974 4943 3031
Unadjusted period prevalence (%)
Whole population 0.13 0.15 0.09
Only index persons 0.16 0.18 0.12
Median age at first event (years)
Whole population 54.77 54.91 54.52
Only index persons 53.95 54.19 53.57

-FinnGen-

Key figures

All Female Male
Number of individuals 999 620 379
Unadjusted period prevalence (%) 0.22 0.24 0.19
Median age at first event (years) 53.46 51.66 56.40

-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_PERIPHRETINADEGEN and mortality.

Females

Parameter HR [95% CI] p-value
H7_PERIPHRETINADEGEN 0.789 [0.7, 0.88] < 0.001
Birth year 0.995 [0.99, 1.0] 0.27

During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 4493 females with H7_PERIPHRETINADEGEN died.

Males

Parameter HR [95% CI] p-value
H7_PERIPHRETINADEGEN 0.794 [0.7, 0.9] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 436 out of 2702 males with H7_PERIPHRETINADEGEN died.

Mortality risk

Mortality risk for people of age

years, who have H7_PERIPHRETINADEGEN.

N-year risk Females Males
1 0.07% 0.126%
5 0.405% 0.914%
10 1.083% 2.273%
15 2.237% 4.398%
20 4.093% 7.697%

Relationships between endpoints

Index endpoint: H7_PERIPHRETINADEGEN – Peripheral retinal degeneration

GWS hits: -

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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