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Thiamine deficiency

DOID EFO Endpoint Browser PheWeb

E4_THIA_DEF

Endpoint definition

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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 — E51
  • Hospital discharge: ICD-9 — 265[0-1]
  • Hospital discharge: ICD-8 — 261
  • Cause of death: ICD-10 — E51
  • Cause of death: ICD-9 — 265[0-1]
  • Cause of death: ICD-8 — 261

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

175

4. Check minimum number of events

None

175

5. Include endpoints

None

175

6. Filter based on genotype QC (FinnGen only)

166

Control definitions (FinnGen only)

Control exclude E4_NUTRIDEF

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E50-E64
Name in latin Deficientia thiamini

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2748 938 1792
Only index persons 2295 816 1479
Unadjusted period prevalence (%)
Whole population 0.04 0.03 0.05
Only index persons 0.05 0.03 0.06
Median age at first event (years)
Whole population 59.15 58.66 59.36
Only index persons 59.28 58.60 59.66

-FinnGen-

Key figures

All Female Male
Number of individuals 166 55 111
Unadjusted period prevalence (%) 0.04 0.02 0.06
Median age at first event (years) 59.72 56.42 61.35

-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

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Association

Association between endpoint E4_THIA_DEF and mortality.

Females

Parameter HR [95% CI] p-value
E4_THIA_DEF 4.252 [3.12, 5.8] < 0.001
Birth year 0.994 [0.99, 1.0] 0.177

During the follow-up period (1.1.1998 — 31.12.2019), 230 out of 671 females with E4_THIA_DEF died.

Males

Parameter HR [95% CI] p-value
E4_THIA_DEF 4.98 [4.14, 5.99] < 0.001
Birth year 0.982 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 604 out of 1344 males with E4_THIA_DEF died.

Mortality risk

Mortality risk for people of age

years, who have E4_THIA_DEF.

N-year risk Females Males
1 0.316% 0.751%
5 2.24% 4.701%
10 5.913% 11.842%
15 11.245% 21.364%
20 18.957% 33.304%

Relationships between endpoints

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Index endpoint: E4_THIA_DEF – Thiamine deficiency

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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