Macular cyst

MACULAR_CYST

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 H35.36#
  • Hospital discharge: ICD-9 3625C
  • Cause of death: ICD-10 H35.36#
  • Cause of death: ICD-9 3625C

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

716

4. Check minimum number of events

None

716

5. Include endpoints

None

716

6. Filter based on genotype QC (FinnGen only)

688

Control definitions (FinnGen only)

Control exclude H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy 5
First used in FinnGen datafreeze DF4
Parent code in ICD-10 H35

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 3939 2208 1725
Only index persons 3877 2177 1700
Unadjusted period prevalence (%)
Whole population 0.06 0.06 0.05
Only index persons 0.07 0.08 0.06
Median age at first event (years)
Whole population 72.17 72.28 72.05
Only index persons 72.18 72.31 72.02

-FinnGen-

Key figures

All Female Male
Number of individuals 688 376 312
Unadjusted period prevalence (%) 0.15 0.15 0.16
Median age at first event (years) 72.30 71.75 72.96

-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 MACULAR_CYST and mortality.

Females

Parameter HR [95% CI] p-value
MACULAR_CYST 0.698 [0.53, 0.92] 0.01
Birth year 1.001 [0.99, 1.01] 0.778

During the follow-up period (1.1.1998 — 31.12.2019), 119 out of 1473 females with MACULAR_CYST died.

Males

Parameter HR [95% CI] p-value
MACULAR_CYST 0.688 [0.5, 0.94] 0.018
Birth year 0.988 [0.98, 1.0] 0.014

During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 1084 males with MACULAR_CYST died.

Mortality risk

Mortality risk for people of age

years, who have MACULAR_CYST.

N-year risk Females Males
1 0.079% 0.103%
5 0.537% 0.804%
10 1.258% 1.964%
15 2.398% 4.017%
20 4.339% 6.824%

Relationships between endpoints

Index endpoint: MACULAR_CYST – Macular cyst

GWS hits: 1

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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