Anomalies of pupillary function

H7_ANOMAPUPFUNC

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 H57.0, H58.0*, H58.0*A52.1
  • Hospital discharge: ICD-9 3794
  • Hospital discharge: ICD-8 3783
  • Cause of death: ICD-10 H57.0, H58.0*, H58.0*A52.1
  • Cause of death: ICD-9 3794
  • Cause of death: ICD-8 3783

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

675

4. Check minimum number of events

None

675

5. Include endpoints

None

675

6. Filter based on genotype QC (FinnGen only)

653

Control definitions (FinnGen only)

Control exclude H7_EYEOTH

Extra metadata

Level in the ICD hierarchy 3
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 5859 3670 2172
Only index persons 5135 3304 1831
Unadjusted period prevalence (%)
Whole population 0.09 0.11 0.06
Only index persons 0.10 0.12 0.07
Median age at first event (years)
Whole population 38.54 40.94 34.48
Only index persons 41.34 42.94 38.47

-FinnGen-

Key figures

All Female Male
Number of individuals 653 468 185
Unadjusted period prevalence (%) 0.16 0.18 0.09
Median age at first event (years) 45.68 45.55 46.01

-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_ANOMAPUPFUNC and mortality.

Females

Parameter HR [95% CI] p-value
H7_ANOMAPUPFUNC 1.182 [0.96, 1.46] 0.124
Birth year 0.993 [0.98, 1.0] 0.099

During the follow-up period (1.1.1998 — 31.12.2019), 169 out of 2968 females with H7_ANOMAPUPFUNC died.

Males

Parameter HR [95% CI] p-value
H7_ANOMAPUPFUNC 1.53 [1.15, 2.03] 0.003
Birth year 0.99 [0.98, 1.0] 0.032

During the follow-up period (1.1.1998 — 31.12.2019), 134 out of 1746 males with H7_ANOMAPUPFUNC died.

Mortality risk

Mortality risk for people of age

years, who have H7_ANOMAPUPFUNC.

N-year risk Females Males
1 0.131% 0.289%
5 0.718% 1.814%
10 1.711% 4.479%
15 3.221% 8.656%
20 5.523% 14.409%

Relationships between endpoints

Index endpoint: H7_ANOMAPUPFUNC – Anomalies of pupillary function

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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