Optic atrophy

H7_OPTATROPHY

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 H47.2, H48.0*, H48.0*A52.1
  • Hospital discharge: ICD-9 3771
  • Hospital discharge: ICD-8 37790
  • Cause of death: ICD-10 H47.2, H48.0*, H48.0*A52.1
  • Cause of death: ICD-9 3771
  • Cause of death: ICD-8 37790

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

567

4. Check minimum number of events

None

567

5. Include endpoints

None

567

6. Filter based on genotype QC (FinnGen only)

538

Control definitions (FinnGen only)

Control exclude H7_OPTNERVE

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 5582 2664 2879
Only index persons 4719 2320 2399
Unadjusted period prevalence (%)
Whole population 0.08 0.08 0.08
Only index persons 0.09 0.09 0.09
Median age at first event (years)
Whole population 46.61 48.27 44.98
Only index persons 45.82 47.26 44.44

-FinnGen-

Key figures

All Female Male
Number of individuals 538 292 246
Unadjusted period prevalence (%) 0.12 0.11 0.12
Median age at first event (years) 53.42 52.30 54.74

-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_OPTATROPHY and mortality.

Females

Parameter HR [95% CI] p-value
H7_OPTATROPHY 1.873 [1.59, 2.2] < 0.001
Birth year 0.99 [0.98, 1.0] 0.028

During the follow-up period (1.1.1998 — 31.12.2019), 468 out of 2068 females with H7_OPTATROPHY died.

Males

Parameter HR [95% CI] p-value
H7_OPTATROPHY 2.259 [1.92, 2.65] < 0.001
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 615 out of 2171 males with H7_OPTATROPHY died.

Mortality risk

Mortality risk for people of age

years, who have H7_OPTATROPHY.

N-year risk Females Males
1 0.093% 0.426%
5 0.802% 2.635%
10 2.178% 6.444%
15 4.039% 11.908%
20 7.47% 19.895%

Relationships between endpoints

Index endpoint: H7_OPTATROPHY – Optic atrophy

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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