Disorders of phosphorus metabolism and phosphatases

E4_PHOS_MET

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 E83.3
  • Hospital discharge: ICD-9 2753
  • Cause of death: ICD-10 E83.3
  • Cause of death: ICD-9 2753
  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 E83.3

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

149

4. Check minimum number of events

None

149

5. Include endpoints

None

149

6. Filter based on genotype QC (FinnGen only)

142

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E83
Name in latin Perturbationes metabolismi phosphori

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 908 443 459
Only index persons 819 399 420
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 54.06 52.80 55.17
Only index persons 54.59 53.52 55.61

-FinnGen-

Key figures

All Female Male
Number of individuals 142 79 63
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 50.23 47.40 53.77

-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 E4_PHOS_MET and mortality.

Females

Parameter HR [95% CI] p-value
E4_PHOS_MET 4.82 [3.0, 7.74] < 0.001
Birth year 0.995 [0.99, 1.0] 0.274

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 333 females with E4_PHOS_MET died.

Males

Parameter HR [95% CI] p-value
E4_PHOS_MET 3.918 [2.62, 5.86] < 0.001
Birth year 0.991 [0.98, 1.0] 0.048

During the follow-up period (1.1.1998 — 31.12.2019), 99 out of 326 males with E4_PHOS_MET died.

Mortality risk

Mortality risk for people of age

years, who have E4_PHOS_MET.

N-year risk Females Males
1 0.415% 0.867%
5 2.335% 4.788%
10 6.908% 11.571%
15 13.29% 21.978%
20 22.891% 36.068%

Relationships between endpoints

Index endpoint: E4_PHOS_MET – Disorders of phosphorus metabolism and phosphatases

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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