Rheumatoid lung disease

RHEUMAT_LUNG

adult-onset Still's disease: adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.

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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 — J99.0, J99.0M05.1, M05.1+J99.0 Cause of death: ICD-10 — J99.0, J99.0M05.1, M05.1+J99.0 2 out of 7 registries used, show all original rules.	135
4. Check minimum number of events None	135
5. Include endpoints None	135
6. Filter based on genotype QC (FinnGen only)	135

Control definitions (FinnGen only)

Control exclude: ILD_SYST_AUTO_DISEASES

Extra metadata

First used in FinnGen datafreeze: DF2

NAME	RHEUMAT_LUNG
CONTROL_EXCLUDE	ILD_SYST_AUTO_DISEASES
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M051\|J990
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	M051\|J990
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 Rheumatoid lung disease 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	998	519	473
Only index persons	705	370	335
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	70.83	71.81	69.83
Only index persons	70.05	70.59	69.45

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	135	59	76
Unadjusted period prevalence (%)	0.03	0.02	0.03
Median age at first event (years)	71.11	70.62	71.49

-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
114: Matched controls
1139

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M05.8

ICD-10 Finland

Other seropositive rheumatoid arthritis

206.8

98.1

J99.0*M05.1

ICD-10 Finland

Rheumatoid lung disease

+∞

88.4

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

105.1

83.4

100

A07EC01

ATC

sulfasalazine; oral, rectal

57.3

60.9

P01BA02

ATC

hydroxychloroquine; oral

41.6

58.1

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

37.9

51.7

J99.0

ICD-10 Finland

Rheumatoid lung disease

+∞

44.8

M05.9

ICD-10 Finland

Seropositive rheumatoid arthritis, unspecified

75.2

39.1

M06.9

ICD-10 Finland

Rheumatoid arthritis, unspecified

58.5

38.2

L01BA01

ATC

methotrexate; systemic (folic acid analog.)

43.3

38.1

H02AB06

ATC

prednisolone; systemic

33.2

37.3

108

400

L04AA13

ATC

leflunomide; oral

56.3

37.1

M05.1

ICD-10 Finland

Rheumatoid lung disease

+∞

35.2

J84.1

ICD-10 Finland

Other interstitial pulmonary diseases with fibrosis

129.7

35.1

J84.9

ICD-10 Finland

Interstitial pulmonary disease, unspecified

59.8

27.2

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

17.6

26.8

L04AX01

ATC

azathioprine; systemic

38.0

26.3

GD1DD

NOMESCO Finland

High resolution CT examination of lungs

21.3

24.7

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

17.0

24.2

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

7.4

21.8

283

313

Kela drug reimbursment

Abatacept, adalimumab, anakinra, certolizumab pegol, etanercept, golimumab, infliximab, ixekizumab, sarilumab, secukinumab, tocilizumab and ustekinumab (rheumatoid diseases)

53.9

19.0

281

Kela drug reimbursment

Abatacept, adalimumab, anakinra, certolizumab pegol, etanercept, golimumab, infliximab, ixekizumab, sarilumab, secukinumab and tocilizumab

50.8

18.0

L88

ICPC

Rheumatoid/seropositive arthritis

20.6

17.6

J18.9

ICD-10 Finland

Pneumonia, unspecified

5.5

16.1

236

7140A

ICD-9 Finland

Rheumatoid arthritis and other inflammatory polyarthropathies, Rheumatoid arthritis[ARTHRITIS RHEUMATOIDES SEROPOSITIVA]

29.9

15.3

UGC12

NOMESCO Finland

Flexible bronchoscopy

7.6

15.0

L04AA06

ATC

mycophenolic acid; systemic

92.3

15.0

M01CB01

ATC

sodium aurothiomalate; parenteral

26.6

14.8

TGC00

NOMESCO Finland

Bronchial lavation

17.8

14.3

M06.0

ICD-10 Finland

Seronegative rheumatoid arthritis

18.4

13.2

J84.8

ICD-10 Finland

Other specified interstitial pulmonary diseases

52.7

12.2

M05

ICD-10 Finland

Seropositive rheumatoid arthritis

39.5

11.6

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

9.6

11.3

71238

ICD-8 Finland

Rheumatoid arthritis and allied conditions, Arthritis rheumatoides alia definita

48.5

11.2

TND11

NOMESCO Finland

Injection of diagnostic or therapeutic substance in joint, wrist or hand

24.4

11.0

M01CB03

ATC

auranofin; oral

66.4

10.8

L04AA01

ATC

[U] ciclosporin; systemic

66.4

10.8

GD1ED

NOMESCO Finland

Extensive high resolution CT examination of lungs

12.4

10.8

TNB11

NOMESCO Finland

Injection of diagnostic or therapeutic substance in shoulder joint

44.2

10.2

M05BA04

ATC

alendronic acid; oral

6.2

10.0

TNX00

NOMESCO Finland

Puncture and needle biopsy of soft tissue, unspecified region

24.2

9.6

ND2DA

NOMESCO Finland

Bilateral hand X-ray examination

20.7

9.2

H02AB07

ATC

prednisone; oral

4.7

9.0

L04AB01

ATC

etanercept; parenteral

54.3

8.8

ND2AA

NOMESCO Finland

Hand and fingers X-ray examination

6.4

8.7

ZX120

NOMESCO Finland

Intravenous

6.1

8.7

L04AB04

ATC

adalimumab; parenteral

96.9

8.5

NDL52

NOMESCO Finland

Tenosynovectomy of hand

96.9

8.5

R91

ICD-10 Finland

Abnormal findings on diagnostic imaging of lung

4.3

8.5

102

R06.0

ICD-10 Finland

Dyspnoea

3.5

8.4

200

J20.9

ICD-10 Finland

Acute bronchitis, unspecified

4.0

8.3

123

NF1AE

NOMESCO Finland

Hip joint ultrasound examination

36.2

8.2

ND2BA

NOMESCO Finland

Hand and fingers extensive X-ray examination

24.1

8.2

R50.9

ICD-10 Finland

Fever, unspecified

4.5

8.0

M80.4

ICD-10 Finland

Drug-induced osteoporosis with pathological fracture

85.4

7.5

L04AD01

ATC

ciclosporin; systemic

85.4

7.5

NDG30

NOMESCO Finland

Fusion of wrist, total

85.4

7.5

NH3DA

NOMESCO Finland

Bilateral foot X-ray examination

17.2

7.4

GX1K5

NOMESCO Finland

Diffusion capacity

+∞

7.4

M01AC06

ATC

meloxicam; systemic, rectal

3.1

7.2

266

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.0

7.2

418

XG410

NOMESCO Finland

Flow-volume spirometry

6.7

6.9

GD1BD

NOMESCO Finland

Thorax extensive CT-examination

7.3

6.9

NH3AA

NOMESCO Finland

Foot and toes X-ray examination

5.4

6.8

XG412

NOMESCO Finland

Flow-volume spirometry with bronchospasmolysis

5.5

6.6

NHM20

NOMESCO Finland

Excision of synovial ganglion of ankle or foot

19.3

6.4

NHG76

NOMESCO Finland

Arthroplasty of other tarsometatarsal joint

19.3

6.4

SPAT1292

SPAT

Other function in accordance with SHToL (Finnish classification of nursing interventions)

4.9

6.3

J990, M058

ICD-10 Finland

+∞

6.3

L40.5

ICD-10 Finland

Arthropathic psoriasis

+∞

6.3

WZC30

NOMESCO Finland

Teaching

3.9

6.3

GD1AD

NOMESCO Finland

Thorax CT examination

7.4

6.3

J01CR02

ATC

amoxicillin and beta-lactamase inhibitor; systemic

2.7

6.1

366

J90

ICD-10 Finland

Pleural effusion, not elsewhere classified

7.1

6.1

Mortality – FinRegistry

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Association

Association between endpoint RHEUMAT_LUNG and mortality.

Females

Parameter	HR [95% CI]	p-value
RHEUMAT_LUNG	4.335 [3.39, 5.55]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.19

During the follow-up period (1.1.1998 — 31.12.2019), 221 out of 379 females with RHEUMAT_LUNG died.

Males

Parameter	HR [95% CI]	p-value
RHEUMAT_LUNG	3.125 [2.41, 4.05]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.015

During the follow-up period (1.1.1998 — 31.12.2019), 209 out of 351 males with RHEUMAT_LUNG died.

Mortality risk

Mortality risk for people of age

years, who have RHEUMAT_LUNG.

N-year risk	Females	Males
1	0.334%	0.578%
5	2.191%	3.843%
10	5.284%	9.686%
15	10.592%	17.551%
20	19.317%	28.326%

Relationships between endpoints

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Index endpoint: RHEUMAT_LUNG – Rheumatoid lung disease

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

Rheumatoid lung disease

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