Vitamin B12 deficiency anaemia

D3_ANAEMIA_B12_DEF

vitamin B12 deficiency: A disease characterized by low serum levels of vitamin B12, either inherited or acquired.

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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 D51
  • Hospital discharge: ICD-9 281[0-1]
  • Hospital discharge: ICD-8 281[0-1]
  • Cause of death: ICD-10 D51
  • Cause of death: ICD-9 281[0-1]
  • Cause of death: ICD-8 281[0-1]
  • KELA reimbursements: KELA codes 107

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

4137

4. Check minimum number of events

None

4137

5. Include endpoints

None

4137

6. Filter based on genotype QC (FinnGen only)

3982

Control definitions (FinnGen only)

Control exclude D3_NUTRIANAEMIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D50-D53
Name in latin Anaemia ex deficientia vitamini B12

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 52228 29010 22438
Only index persons 35116 20477 14639
Unadjusted period prevalence (%)
Whole population 0.74 0.83 0.63
Only index persons 0.67 0.75 0.56
Median age at first event (years)
Whole population 69.57 69.67 69.40
Only index persons 67.32 66.96 67.81

-FinnGen-

Key figures

All Female Male
Number of individuals 3982 2018 1964
Unadjusted period prevalence (%) 0.89 0.79 0.99
Median age at first event (years) 62.08 57.76 66.52

-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 D3_ANAEMIA_B12_DEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_ANAEMIA_B12_DEF 1.482 [1.37, 1.6] < 0.001
Birth year 0.992 [0.98, 1.0] 0.055

During the follow-up period (1.1.1998 — 31.12.2019), 7706 out of 16915 females with D3_ANAEMIA_B12_DEF died.

Males

Parameter HR [95% CI] p-value
D3_ANAEMIA_B12_DEF 1.604 [1.46, 1.76] < 0.001
Birth year 0.989 [0.98, 1.0] 0.015

During the follow-up period (1.1.1998 — 31.12.2019), 6887 out of 13361 males with D3_ANAEMIA_B12_DEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_ANAEMIA_B12_DEF.

N-year risk Females Males
1 0.147% 0.38%
5 0.848% 2.113%
10 2.174% 5.004%
15 4.043% 9.139%
20 6.83% 15.193%

Relationships between endpoints

Index endpoint: D3_ANAEMIA_B12_DEF – Vitamin B12 deficiency anaemia

GWS hits: 10

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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