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ILD related to systemic autoimmune disease

ILD_SYST_AUTO

interstitial lung disease: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

  • ILD_ELSEWHERE
170

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

155

6. Filter based on genotype QC (FinnGen only)

155

Control definitions (FinnGen only)

Control exclude
ILD_ENDPOINTS
Control conditions
not ILD_ELSEWHERE

Extra metadata

First used in FinnGen datafreeze
DF2

Case counts by codes

FinnGen case counts by registry codes:

No data for upset plot.

No data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 702 418 283
Only index persons 570 342 228
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 65.09 64.63 65.84
Only index persons 64.33 63.09 66.19

-FinnGen-

Key figures

All Female Male
Number of individuals 155 88 67
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 61.33 59.16 64.19

-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

Not a core endpoint, no data to show.

CodeWAS (R11)

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
136
Matched controls
1358
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
J84.9
ICD-10 Finland
Interstitial pulmonary disease, unspecified
1572.0
85.2
74
*
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
+∞
81.7
70
*
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
55.2
80.8
105
78
P01BA02
ATC
hydroxychloroquine; oral
36.4
62.7
86
61
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
40.1
57.3
74
39
L04AX01
ATC
azathioprine; systemic
44.0
54.5
68
30
J84.8
ICD-10 Finland
Other specified interstitial pulmonary diseases
+∞
46.6
42
*
J99.0*M05.1
ICD-10 Finland
Rheumatoid lung disease
+∞
44.2
40
*
H02AB06
ATC
prednisolone; systemic
30.3
44.1
128
469
M05.8
ICD-10 Finland
Other seropositive rheumatoid arthritis
28.8
41.7
58
34
UGC12
NOMESCO Finland
Flexible bronchoscopy
21.6
40.4
63
52
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
37.8
36.3
46
18
TGC00
NOMESCO Finland
Bronchial lavation
57.8
35.6
41
10
L04AA06
ATC
mycophenolic acid; systemic
65.1
33.7
38
8
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
10.4
33.3
105
333
J99.1
ICD-10 Finland
Respiratory disorders in other diffuse connective tissue disorders
+∞
32.6
30
*
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
17.7
32.2
53
47
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
13.3
32.0
62
80
J18.9
ICD-10 Finland
Pneumonia, unspecified
9.3
31.0
87
218
M35.0
ICD-10 Finland
Sicca syndrome [Sjögren]
35.7
27.5
35
13
GD1AA
NOMESCO Finland
Thorax X-ray examination
8.1
26.3
106
414
J99.1*M35.0
ICD-10 Finland
Respiratory disorders in sicca syndrome [Sjögren]
+∞
25.8
24
*
J99.0
ICD-10 Finland
Rheumatoid lung disease
+∞
25.8
24
*
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
10.8
24.0
50
69
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
13.1
23.4
43
46
L01BA01
ATC
methotrexate; systemic (folic acid analog.)
25.7
23.0
32
16
XG410
NOMESCO Finland
Flow-volume spirometry
20.2
22.5
34
22
M35.9
ICD-10 Finland
Systemic involvement of connective tissue, unspecified
259.9
22.3
22
*
R06.0
ICD-10 Finland
Dyspnoea
6.4
21.2
71
197
A07EC01
ATC
sulfasalazine; oral, rectal
10.5
21.2
44
59
TNX10
NOMESCO Finland
Arthrocentesis, unspecified region, unspecified region
10.2
19.6
41
55
M06.9
ICD-10 Finland
Rheumatoid arthritis, unspecified
21.6
19.2
28
16
J99.1*M33.2
ICD-10 Finland
Respiratory disorders in polymyositis
+∞
19.2
18
*
J99.1*M31.3
ICD-10 Finland
Respiratory disorders in Wegener's granulomatosis
+∞
19.2
18
*
M33.2
ICD-10 Finland
Polymyositis
205.5
18.0
18
*
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
10.2
17.9
37
48
R50.9
ICD-10 Finland
Fever, unspecified
7.4
17.0
44
82
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
5.4
16.8
62
182
J01MA14
ATC
moxifloxacin; systemic
8.2
16.5
39
63
M05.9
ICD-10 Finland
Seropositive rheumatoid arthritis, unspecified
21.5
15.3
22
12
M31.3
ICD-10 Finland
Wegener granulomatosis
+∞
14.8
14
*
M05BA04
ATC
alendronic acid; oral
7.1
14.6
38
70
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
5.3
13.9
48
126
L04AA13
ATC
leflunomide; oral
14.3
13.7
23
19
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
9.9
13.3
27
33
J01MA12
ATC
levofloxacin; systemic
4.6
13.2
54
169
J96.1
ICD-10 Finland
Chronic respiratory failure
29.9
12.4
16
6
M32.9
ICD-10 Finland
Systemic lupus erythematosus, unspecified
130.5
11.6
12
*
M33.1
ICD-10 Finland
Other dermatomyositis
130.5
11.6
12
*
M33.9
ICD-10 Finland
Dermatopolymyositis, unspecified
130.5
11.6
12
*
ZX120
NOMESCO Finland
Intravenous
5.9
11.3
33
70
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
6.3
11.0
30
58
ND2BA
NOMESCO Finland
Hand and fingers extensive X-ray examination
23.8
10.9
15
7
L88
ICPC
Rheumatoid/seropositive arthritis
11.5
10.9
20
20
M05.1
ICD-10 Finland
Rheumatoid lung disease
+∞
10.5
10
*
J99.1*M32.1
ICD-10 Finland
Respiratory disorders in systemic: lupus erythematosus
+∞
10.5
10
*
TND11
NOMESCO Finland
Injection of diagnostic or therapeutic substance in joint, wrist or hand
35.6
10.5
13
*
GD1AD
NOMESCO Finland
Thorax CT examination
9.7
10.5
21
25
C03CA01
ATC
furosemide; systemic
3.6
10.3
59
237
TPH04
NOMESCO Finland
Cathetrisation of vein
3.8
10.3
53
197
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
6.7
10.2
26
46
XQ858
NOMESCO Finland
Oxygen partial pressure measurement
43.5
10.1
12
*
WZC30
NOMESCO Finland
Teaching
4.9
9.7
33
83
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
5.4
9.6
30
68
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
9.7
9.1
18
21
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
3.1
9.1
82
447
NH3EA
NOMESCO Finland
Feet X-ray examination with load
13.9
9.1
15
12
J01AA02
ATC
doxycycline; systemic
4.5
8.8
122
899
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
11.9
8.5
15
14
ZX108
NOMESCO Finland
Inhalation
95.7
8.5
9
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
8.4
36
112
M34.9
ICD-10 Finland
Systemic sclerosis, unspecified
+∞
8.4
8
*
L01AA01
ATC
cyclophosphamide; systemic
+∞
8.4
8
*
H02AB07
ATC
prednisone; oral
4.0
8.4
35
107
H04.10
ICD-10 Finland
Dry eye syndrome
4.4
8.3
31
85
L04AD01
ATC
ciclosporin; systemic
11.1
8.3
15
15
313
Kela drug reimbursment
Abatacept, adalimumab, anakinra, certolizumab pegol, etanercept, golimumab, infliximab, ixekizumab, sarilumab, secukinumab, tocilizumab and ustekinumab (rheumatoid diseases)
11.1
8.3
15
15
M80.4
ICD-10 Finland
Drug-induced osteoporosis with pathological fracture
35.7
8.2
10
*
281
Kela drug reimbursment
Abatacept, adalimumab, anakinra, certolizumab pegol, etanercept, golimumab, infliximab, ixekizumab, sarilumab, secukinumab and tocilizumab
11.8
8.0
14
13
SPAT1083
SPAT
Initiation and monitoring of IV fluid therapy
9.8
7.8
15
17
M01CB01
ATC
sodium aurothiomalate; parenteral
19.7
7.7
11
6
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.9
7.6
33
104
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
7.6
7.6
17
25
GX1K5
NOMESCO Finland
Diffusion capacity
84.4
7.5
8
*
GCA98
NOMESCO Finland
Other bronchoscopic procedure on bronchus
84.4
7.5
8
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.4
7.4
27
72
M05BX04
ATC
denosumab; parenteral
6.3
7.4
19
34
J99.1*M33.9
ICD-10 Finland
Respiratory disorders in dermatopolymyositis
+∞
7.3
7
*
J17.3*B59
ICD-10 Finland
Pneumonia due to Pneumocystis carinii
+∞
7.3
7
*
M31.1
ICD-10 Finland
Thrombotic microangiopathy
+∞
7.3
7
*
L04AA01
ATC
[U] ciclosporin; systemic
11.8
6.9
12
11
J05AB11
ATC
valaciclovir; oral
3.8
6.9
30
95
GDA11
NOMESCO Finland
Thoracoscopic biopsy of lung
42.2
6.8
8
*
Z01.8
ICD-10 Finland
Other specified special examinations
3.0
6.8
44
186
XG466
NOMESCO Finland
Sleep oxymetry
8.5
6.8
14
18
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
23.9
6.8
9
*
K21.9
ICD-10 Finland
Gastro-oesophageal reflux disease without oesophagitis
4.4
6.7
24
63
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
5.8
6.6
18
35
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.1
6.5
39
155
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.3
6.5
24
65
M31.8
ICD-10 Finland
Other specified necrotizing vasculopathies
73.1
6.5
7
*
M34.1
ICD-10 Finland
CR(E)ST syndrome
73.1
6.5
7
*
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
73.1
6.5
7
*
R05
ICD-10 Finland
Cough
3.1
6.5
41
168
M13.9
ICD-10 Finland
Arthritis, unspecified
4.7
6.4
21
51
L99
ICPC
Musculoskeletal disease other
19.1
6.3
9
5
GX1D5
NOMESCO Finland
Flow volume spirometry
+∞
6.3
6
*
I27.2
ICD-10 Finland
Other secondary pulmonary hypertension
+∞
6.3
6
*
M32.1
ICD-10 Finland
Systemic lupus erythematosus with organ or system involvement
+∞
6.3
6
*
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.0
6.3
25
73
J01FA06
ATC
roxithromycin; oral
2.5
6.2
70
405
J22
ICD-10 Finland
Unspecified acute lower respiratory infection
6.6
6.2
15
25
R03AC02
ATC
salbutamol; inhalant
2.4
6.0
83
530
R03BA08
ATC
ciclesonide; inhalant
4.6
6.0
20
49

Mortality – FinRegistry

Association

Association between endpoint ILD_SYST_AUTO and mortality.

Females

Parameter HR [95% CI] p-value
ILD_SYST_AUTO 3.699 [2.83, 4.84] < 0.001
Birth year 0.993 [0.98, 1.0] 0.096

During the follow-up period (1.1.1998 — 31.12.2019), 137 out of 320 females with ILD_SYST_AUTO died.

Males

Parameter HR [95% CI] p-value
ILD_SYST_AUTO 3.464 [2.4, 5.01] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 205 males with ILD_SYST_AUTO died.

Mortality risk

Mortality risk for people of age

years, who have ILD_SYST_AUTO.

N-year risk Females Males
1 0.408% 0.714%
5 1.999% 4.234%
10 4.769% 9.531%
15 9.366% 17.667%
20 16.266% 28.289%

Relationships between endpoints

Index endpoint: ILD_SYST_AUTO – ILD related to systemic autoimmune 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
FinnGen
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