Other spirochaetal diseases

AB1_OTHER_SPIROCHAETAL

Pinta: An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact.

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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 A65-A69
  • Hospital discharge: ICD-9 104|08[7-7]
  • Hospital discharge: ICD-8 08[8-9]
  • Cause of death: ICD-10 A65-A69
  • Cause of death: ICD-9 104|08[7-7]
  • Cause of death: ICD-8 08[8-9]

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

-

4. Check minimum number of events

None

-

5. Include endpoints

2940

6. Filter based on genotype QC (FinnGen only)

2810

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 2
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 22507 12132 10305
Only index persons 20424 11128 9296
Unadjusted period prevalence (%)
Whole population 0.32 0.35 0.29
Only index persons 0.38 0.41 0.35
Median age at first event (years)
Whole population 50.68 51.77 49.40
Only index persons 52.33 53.27 51.20

-FinnGen-

Key figures

All Female Male
Number of individuals 2810 1684 1126
Unadjusted period prevalence (%) 0.62 0.66 0.57
Median age at first event (years) 58.51 56.53 61.48

-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 AB1_OTHER_SPIROCHAETAL and mortality.

Females

Parameter HR [95% CI] p-value
AB1_OTHER_SPIROCHAETAL 0.855 [0.75, 0.98] 0.025
Birth year 0.992 [0.98, 1.0] 0.08

During the follow-up period (1.1.1998 — 31.12.2019), 579 out of 9498 females with AB1_OTHER_SPIROCHAETAL died.

Males

Parameter HR [95% CI] p-value
AB1_OTHER_SPIROCHAETAL 0.869 [0.75, 1.0] 0.056
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 665 out of 8102 males with AB1_OTHER_SPIROCHAETAL died.

Mortality risk

Mortality risk for people of age

years, who have AB1_OTHER_SPIROCHAETAL.

N-year risk Females Males
1 0.079% 0.153%
5 0.478% 1.001%
10 1.159% 2.406%
15 2.151% 4.76%
20 3.815% 8.105%

Relationships between endpoints

Index endpoint: AB1_OTHER_SPIROCHAETAL – Other spirochaetal diseases

GWS hits: 2

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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