Renal agenesis and other reduction defects of kidney

Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY

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 Q60
  • Cause of death: ICD-10 Q60

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

158

4. Check minimum number of events

None

158

5. Include endpoints

None

158

6. Filter based on genotype QC (FinnGen only)

148

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q6[0-4]
Name in latin Agenesis/aplasia/hypoplasia/atrophia renis/renum

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 1672 714 949
Only index persons 1260 565 695
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.02 0.02 0.03
Median age at first event (years)
Whole population 14.59 17.97 11.61
Only index persons 24.56 26.79 22.74

-FinnGen-

Key figures

All Female Male
Number of individuals 148 60 88
Unadjusted period prevalence (%) 0.04 0.02 0.04
Median age at first event (years) 43.35 36.87 47.77

-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 Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY and mortality.

Females

Parameter HR [95% CI] p-value
Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY 3.495 [2.57, 4.75] < 0.001
Birth year 0.997 [0.99, 1.01] 0.485

During the follow-up period (1.1.1998 — 31.12.2019), 84 out of 613 females with Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY died.

Males

Parameter HR [95% CI] p-value
Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY 2.759 [2.09, 3.65] < 0.001
Birth year 0.986 [0.98, 1.0] 0.007

During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 799 males with Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY died.

Mortality risk

Mortality risk for people of age

years, who have Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY.

N-year risk Females Males
1 0.299% 0.571%
5 2.066% 2.868%
10 5.114% 7.129%
15 10.314% 13.517%
20 17.723% 22.645%

Relationships between endpoints

Index endpoint: Q17_RENAL_AGENE_OTHER_REDUCT_DEFECTS_KIDNEY – Renal agenesis and other reduction defects of kidney

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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