Background retinopathy and retinal vascular changes

H7_BCKRNDRETINOPAT

age-related macular degeneration: Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.

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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 H35.0
  • Hospital discharge: ICD-9 3621|3624A
  • Hospital discharge: ICD-8 36701|37705|37709|37712
  • Cause of death: ICD-10 H35.0
  • Cause of death: ICD-9 3621|3624A
  • Cause of death: ICD-8 36701|37705|37709|37712

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

688

4. Check minimum number of events

None

688

5. Include endpoints

None

688

6. Filter based on genotype QC (FinnGen only)

658

Control definitions (FinnGen only)

Control exclude H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF6
Parent code in ICD-10 H35
Name in latin Retinopathia recessualis et commutationes vasculares 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 6024 2953 3018
Only index persons 5178 2570 2608
Unadjusted period prevalence (%)
Whole population 0.08 0.08 0.08
Only index persons 0.10 0.09 0.10
Median age at first event (years)
Whole population 59.07 63.57 54.72
Only index persons 58.11 62.71 53.57

-FinnGen-

Key figures

All Female Male
Number of individuals 658 318 340
Unadjusted period prevalence (%) 0.15 0.12 0.17
Median age at first event (years) 57.34 57.35 57.32

-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_BCKRNDRETINOPAT and mortality.

Females

Parameter HR [95% CI] p-value
H7_BCKRNDRETINOPAT 1.398 [1.23, 1.59] < 0.001
Birth year 0.998 [0.99, 1.01] 0.678

During the follow-up period (1.1.1998 — 31.12.2019), 810 out of 2446 females with H7_BCKRNDRETINOPAT died.

Males

Parameter HR [95% CI] p-value
H7_BCKRNDRETINOPAT 1.353 [1.17, 1.56] < 0.001
Birth year 0.99 [0.98, 1.0] 0.037

During the follow-up period (1.1.1998 — 31.12.2019), 716 out of 2418 males with H7_BCKRNDRETINOPAT died.

Mortality risk

Mortality risk for people of age

years, who have H7_BCKRNDRETINOPAT.

N-year risk Females Males
1 0.149% 0.271%
5 0.836% 1.616%
10 2.152% 4.152%
15 4.438% 7.965%
20 7.889% 13.748%

Relationships between endpoints

Index endpoint: H7_BCKRNDRETINOPAT – Background retinopathy and retinal vascular changes

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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