Amyloidosis, other/unspecified

E4_AMYLNAS

amyloidosis: A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.

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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 E85[8-9]
  • Hospital discharge: ICD-9 2773
  • Hospital discharge: ICD-8 27699
  • Cause of death: ICD-10 E85[8-9]
  • Cause of death: ICD-9 2773
  • Cause of death: ICD-8 27699

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

503

4. Check minimum number of events

None

503

5. Include endpoints

None

503

6. Filter based on genotype QC (FinnGen only)

492

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
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 5263 2849 2321
Only index persons 3048 1579 1469
Unadjusted period prevalence (%)
Whole population 0.07 0.08 0.06
Only index persons 0.06 0.06 0.06
Median age at first event (years)
Whole population 67.37 66.72 68.27
Only index persons 68.90 67.88 69.99

-FinnGen-

Key figures

All Female Male
Number of individuals 492 243 249
Unadjusted period prevalence (%) 0.11 0.10 0.13
Median age at first event (years) 66.57 62.32 70.71

-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 E4_AMYLNAS and mortality.

Females

Parameter HR [95% CI] p-value
E4_AMYLNAS 5.481 [4.42, 6.8] < 0.001
Birth year 0.998 [0.99, 1.01] 0.681

During the follow-up period (1.1.1998 — 31.12.2019), 696 out of 1370 females with E4_AMYLNAS died.

Males

Parameter HR [95% CI] p-value
E4_AMYLNAS 4.06 [3.17, 5.2] < 0.001
Birth year 0.985 [0.97, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 668 out of 1241 males with E4_AMYLNAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_AMYLNAS.

N-year risk Females Males
1 0.4% 0.707%
5 3.508% 4.19%
10 8.544% 10.612%
15 15.418% 19.136%
20 27.346% 30.589%

Relationships between endpoints

Index endpoint: E4_AMYLNAS – Amyloidosis, other/unspecified

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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