Rhinophyma

L12_RHINOPHYMA

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 L71.1
  • Hospital discharge: ICD-9 6953D
  • Hospital discharge: ICD-8 69530
  • Cause of death: ICD-10 L71.1
  • Cause of death: ICD-9 6953D
  • Cause of death: ICD-8 69530

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

179

4. Check minimum number of events

None

179

5. Include endpoints

None

179

6. Filter based on genotype QC (FinnGen only)

175

Control definitions (FinnGen only)

Control exclude L12_DISORDSKINAPPENDIX

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 L71
Name in latin Rhinophyma

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 1418 326 1079
Only index persons 1182 258 924
Unadjusted period prevalence (%)
Whole population 0.03 0.01 0.03
Only index persons 0.03 0.01 0.04
Median age at first event (years)
Whole population 62.67 49.47 66.72
Only index persons 62.60 47.46 66.83

-FinnGen-

Key figures

All Female Male
Number of individuals 175 28 147
Unadjusted period prevalence (%) 0.06 0.01 0.07
Median age at first event (years) 64.04 45.88 67.50

-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

No data

Mortality – FinRegistry

Association

Association between endpoint L12_RHINOPHYMA and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
L12_RHINOPHYMA 1.076 [0.9, 1.29] 0.435
Birth year 0.991 [0.98, 1.0] 0.056

During the follow-up period (1.1.1998 — 31.12.2019), 223 out of 774 males with L12_RHINOPHYMA died.

Mortality risk

Mortality risk for people of age

years, who have L12_RHINOPHYMA.

N-year risk Females Males
1 No data 0.243%
5 No data 1.406%
10 No data 3.532%
15 No data 6.807%
20 No data 11.741%

Relationships between endpoints

Index endpoint: L12_RHINOPHYMA – Rhinophyma

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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