Organ-limited amyloidosis

E4_AMYL_ORGAN

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

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Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — E85.4 Cause of death: ICD-10 — E85.4 2 out of 7 registries used, show all original rules.	136
4. Check minimum number of events None	136
5. Include endpoints None	136
6. Filter based on genotype QC (FinnGen only)	136

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: E85
Name in latin: Amyloidosis in uno organo

NAME	E4_AMYL_ORGAN
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E854
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E854
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Organ-limited amyloidosis based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	1581	719	850
Only index persons	1221	545	676
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.03
Median age at first event (years)
Whole population	83.24	84.01	82.64
Only index persons	83.19	84.14	82.43

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	136	46	90
Unadjusted period prevalence (%)	0.03	0.02	0.04
Median age at first event (years)	76.01	69.60	79.28

-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

CodeWAS (R11)

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CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
106: Matched controls
1059

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E85.4

ICD-10 Finland

Organ-limited amyloidosis

+∞

152.9

106

E85.9

ICD-10 Finland

Amyloidosis, unspecified

+∞

36.6

I43.1*E85.9

ICD-10 Finland

Cardiac amyloidosis

+∞

12.8

E85.89

ICD-10 Finland

Other amyloidosis

+∞

11.7

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

5.0

10.7

110

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.5

8.5

315

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

6.2

8.1

I50.0

ICD-10 Finland

Congestive heart failure

4.7

7.5

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

5.0

7.4

E78.00

ICD-10 Finland

Familial hypercholesterolaemia

42.9

6.9

I43.1

ICD-10 Finland

Cardiomyopathy in metabolic diseases

+∞

6.3

N08.4*E85.9

ICD-10 Finland

Glomerular disorders in amyloidosis

+∞

6.3

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

3.5

6.3

111

Mortality – FinRegistry

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Association

Association between endpoint E4_AMYL_ORGAN and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMYL_ORGAN.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

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Index endpoint: E4_AMYL_ORGAN – Organ-limited amyloidosis

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

Loading data

Organ-limited amyloidosis

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints