Dry age-related macular degeneration (includes geographic atrophy)

DRY_AMD

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

  • not DRY_AMD_EARLY
473541

3. Check pre-conditions, main-only, mode, registry filters

Pre-conditions: EVENT_AGE>=50

Registry filters:

  • Hospital discharge: ICD-10 H35.30
  • Hospital discharge: ICD-9 3625A
  • Cause of death: ICD-10 H35.30
  • Cause of death: ICD-9 3625A

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

7859

4. Check minimum number of events

None

7859

5. Include endpoints

None

7859

6. Filter based on genotype QC (FinnGen only)

7589

Control definitions (FinnGen only)

Control pre-conditions DEATH_AGE>=50
Control conditions not DRY_AMD_EARLY

Extra metadata

Level in the ICD hierarchy 5
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H35
Name in latin Degeneratio maculae senilis atrophica

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 76411 48970 27076
Only index persons 68221 44279 23942
Unadjusted period prevalence (%)
Whole population 1.17 1.40 0.76
Only index persons 1.38 1.63 0.91
Median age at first event (years)
Whole population 79.61 80.34 78.29
Only index persons 79.38 80.14 77.98

-FinnGen-

Key figures

All Female Male
Number of individuals 7589 4053 3536
Unadjusted period prevalence (%) 1.68 1.59 1.78
Median age at first event (years) 76.58 76.64 76.51

-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 DRY_AMD and mortality.

Females

Parameter HR [95% CI] p-value
DRY_AMD 0.971 [0.89, 1.06] 0.514
Birth year 0.994 [0.99, 1.0] 0.12

During the follow-up period (1.1.1998 — 31.12.2019), 18068 out of 41213 females with DRY_AMD died.

Males

Parameter HR [95% CI] p-value
DRY_AMD 1.016 [0.91, 1.13] 0.779
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 10705 out of 22693 males with DRY_AMD died.

Mortality risk

Mortality risk for people of age

years, who have DRY_AMD.

N-year risk Females Males
1 0.089% 0.153%
5 0.571% 1.022%
10 1.375% 2.718%
15 2.611% 5.53%
20 4.548% 9.433%

Relationships between endpoints

Index endpoint: DRY_AMD – Dry age-related macular degeneration (includes geographic atrophy)

GWS hits: 22

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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