Cystic fibrosis

E4_CYSTFIBRO

obsolete_cystic fibrosis: ['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']

Suggest a new description

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 E84
  • Cause of death: ICD-10 E84

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

74

4. Check minimum number of events

None

74

5. Include endpoints

94

6. Filter based on genotype QC (FinnGen only)

87

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Fibrosis cystica

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 672 324 341
Only index persons 504 255 249
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 51.06 55.29 46.77
Only index persons 51.08 55.07 46.99

-FinnGen-

Key figures

All Female Male
Number of individuals 87 49 38
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 35.69 34.65 37.03

-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

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
91
Matched controls
910
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E84.0
ICD-10 Finland
Cystic fibrosis with pulmonary manifestations
+∞
57.5
49
*
E84.9
ICD-10 Finland
Cystic fibrosis, unspecified
+∞
52.2
45
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
23.4
44.4
38
27
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
121.8
40.1
41
6
A09AA02
ATC
multienzymes (lipase, protease etc.); oral
84.6
39.0
42
9
304
Kela drug reimbursment
Dornase alfa
+∞
38.2
34
*
R05CB13
ATC
dornase alfa (desoxyribonuclease); inhalant
+∞
38.2
34
*
E84.1
ICD-10 Finland
Cystic fibrosis with intestinal manifestations
+∞
35.8
32
*
J01GB01
ATC
tobramycin; inhalant, parenteral
+∞
34.6
31
*
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
109.9
28.8
30
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
13.3
27.3
31
34
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
12.7
25.7
30
34
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
29.0
25.7
35
19
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
25.2
23
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
9.6
24.6
39
66
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
151.7
22.7
23
*
TGC00
NOMESCO Finland
Bronchial lavation
67.9
22.5
25
5
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
7.7
21.4
45
102
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.3
20.7
51
135
J01XB01
ATC
colistin; inhalant, parenteral
+∞
20.6
19
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
21.7
20.3
30
20
J18.9
ICD-10 Finland
Pneumonia, unspecified
7.2
20.2
50
132
GD1AA
NOMESCO Finland
Thorax X-ray examination
8.7
20.0
71
264
UDH02
NOMESCO Finland
Rhinopharyngoscopy
10.0
19.8
27
37
L04AA06
ATC
mycophenolic acid; systemic
67.2
18.9
21
*
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
9.8
18.4
25
34
GD1AD
NOMESCO Finland
Thorax CT examination
19.6
18.4
28
20
E84
ICD-10 Finland
Cystic fibrosis
+∞
18.3
17
*
2770A
ICD-9 Finland
Other and unspecified disorders of metabolism, Cystic fibrosis
+∞
18.3
17
*
L04AD02
ATC
tacrolimus; systemic
221.3
18.2
18
*
J32.4
ICD-10 Finland
Chronic pansinusitis
221.3
18.2
18
*
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
33.6
18.0
23
9
R4190
NOMESCO Finland
Nutritional therapy
18.6
17.4
27
20
127
Kela drug reimbursment
Transplant complication
50.4
17.2
20
5
Z94.2
ICD-10 Finland
Lung transplant status
206.3
17.1
17
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
7.2
16.4
31
61
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
+∞
16.1
15
*
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
23.7
15.6
22
12
J01MA12
ATC
levofloxacin; systemic
6.1
15.4
37
92
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
17.6
15.3
24
18
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
5.6
15.3
52
175
WX408
NOMESCO Finland
General anesthesy, balanced
5.7
15.3
43
123
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
15.0
14
*
R4110
NOMESCO Finland
Physiotherapy
5.5
14.9
46
142
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
25.1
14.6
20
10
XG410
NOMESCO Finland
Flow-volume spirometry
22.8
14.1
20
11
J01MA02
ATC
ciprofloxacin; systemic
5.3
14.1
53
191
ZX120
NOMESCO Finland
Intravenous
8.0
14.0
22
35
SPAT1262
SPAT
Handing over of treatment supplies
6.4
14.0
29
62
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
13.9
13
*
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
163.4
13.9
14
*
TDM10
NOMESCO Finland
Puncture of maxillary antrum
16.6
13.8
22
17
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
13.7
13.8
24
23
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
13.6
13.2
23
22
WX404
NOMESCO Finland
Intravenous generell anesthesy
5.3
13.2
38
109
J01MA14
ATC
moxifloxacin; systemic
7.7
13.1
21
34
R03AK06
ATC
salmeterol and fluticasone; inhalant
6.1
12.9
28
62
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
6.0
12.7
28
63
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
13.4
12.6
22
21
R03BA05
ATC
fluticasone; inhalant
5.1
12.4
36
103
UJF32
NOMESCO Finland
Coloscopy
5.1
12.4
36
103
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
14.0
12.3
21
19
J33.0
ICD-10 Finland
Polyp of nasal cavity
27.3
12.1
16
7
Z3229
NOMESCO Finland
Other healthcare associate professional
6.9
11.8
21
38
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
29.5
11.6
15
6
ZXA10
NOMESCO Finland
Bilateral
4.9
11.2
33
95
TPX10
NOMESCO Finland
Implantation of vascular injection port
25.2
11.1
15
7
602
Kela drug reimbursment
Children's severe malnutrition
32.6
11.1
14
5
TPH04
NOMESCO Finland
Cathetrisation of vein
4.8
11.1
34
101
UDC00
NOMESCO Finland
Ear microscopy
6.6
11.0
20
37
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.5
10.7
20
38
R07AX02
ATC
ivacaftor; oral
+∞
10.6
10
*
B05XA03
ATC
sodium chloride; parenteral
+∞
10.6
10
*
3045, ,
Kela drug reimbursment
+∞
10.6
10
*
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
10.6
10
*
103
Kela drug reimbursment
Diabetes, insulin-treated
4.5
10.5
36
116
A10AB05
ATC
insulin aspart; parenteral
9.3
10.5
22
30
R03BA02
ATC
budesonide; inhalant
4.7
10.4
32
95
ZXE10
NOMESCO Finland
More than one and less than three hours
4.1
10.3
47
187
J01CF05
ATC
flucloxacillin; systemic
6.4
10.1
19
36
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
4.5
10.0
33
103
Z3226
NOMESCO Finland
Physiotherapist
4.5
9.9
32
98
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
111.1
9.6
10
*
215
Kela drug reimbursment
Diabetes, non-insulin-treated
4.3
9.6
33
106
Z31.5
ICD-10 Finland
Genetic counselling
8.5
9.5
21
31
DPA30
NOMESCO Finland
Sphenotomy
+∞
9.5
9
*
XX4BW, ,
NOMESCO Finland
+∞
9.5
9
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
9.5
9
*
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
14.7
9.3
15
12
UDM02
NOMESCO Finland
Sinoscopy
27.3
9.2
12
5
H02AB06
ATC
prednisolone; systemic
3.8
9.0
55
260
K90.3
ICD-10 Finland
Pancreatic steatorrhoea
55.5
8.9
10
*
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
18.7
8.9
13
8
R04.2
ICD-10 Finland
Haemoptysis
22.7
8.7
12
6
RS123, ,
NOMESCO Finland
98.8
8.6
9
*
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
16.6
8.5
13
9
DHB20
NOMESCO Finland
Polypectomy of internal nose
+∞
8.5
8
*
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
37.0
8.3
10
*
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
37.0
8.3
10
*
Z94.0
ICD-10 Finland
Kidney transplant status
37.0
8.3
10
*
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
11.6
7.9
14
14
J47
ICD-10 Finland
Bronchiectasis
20.6
7.8
11
6
Z2446
NOMESCO Finland
Social worker
7.0
7.8
19
33
A02BA03
ATC
famotidine; systemic
15.1
7.6
12
9
WX302
NOMESCO Finland
Thoracal epidural anesthesy
12.4
7.6
13
12
R05CB02
ATC
bromhexine; systemic
86.9
7.5
8
*
A06AD11
ATC
lactulose; oral
4.8
7.5
19
47
OAB50, ,
SPAT
6.6
7.4
19
35
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.6
7.3
20
53
A05AA02
ATC
ursodeoxycholic acid; oral
15.4
7.1
11
8
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
8.3
7.0
15
21
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.1
7.0
23
70
R03AK07
ATC
formoterol and budesonide; inhalant
3.7
7.0
28
98
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
24.7
6.8
9
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
11.3
6.8
12
12
ZXD05
NOMESCO Finland
Urgent procedure
3.2
6.7
39
172
A10AE05
ATC
insulin detemir; parenteral
8.5
6.7
14
19
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.7
6.7
17
42
JN3AD
NOMESCO Finland
Abdominal CT examination
4.5
6.6
18
47
R01AD08
ATC
fluticasone; nasal
3.2
6.6
39
174
C03CA01
ATC
furosemide; systemic
3.4
6.5
31
121
R03AC02
ATC
salbutamol; inhalant
3.4
6.5
66
400
ZXE40
NOMESCO Finland
More than seven and less than nine hours
19.7
6.4
9
5
TPH30
NOMESCO Finland
Insertion of central venous catheter through periferal vein
19.7
6.4
9
5
ZXD10
NOMESCO Finland
Scheduled procedure
3.1
6.4
44
213
DM1BG
NOMESCO Finland
Paranasal sinuses and face area standard MRI examination with high intensity magnet
+∞
6.3
6
*
J02AC04
ATC
posaconazole; systemic
+∞
6.3
6
*
A31.0
ICD-10 Finland
Pulmonary mycobacterial infection
+∞
6.3
6
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.3
6
*
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
4.0
6.1
20
60
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
7.3
6.1
14
22
WX872
NOMESCO Finland
Intensive care
7.3
6.1
14
22
SPAT1255
SPAT
Intravenous administration of medicine
9.0
6.1
12
15
ZXE00
NOMESCO Finland
One hour or less
2.9
6.0
48
250
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.6
6.0
24
83

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
39
48
13.47
32.13
5.9
2.9
79.97
65.33
ng/l
0.63
34
41
33
8
63.36
29.25
25.6
1.5
—
—
—
0
0
45
80
10.15
27.52
14.1
1.4
—
—
—
0
0
38
78
7.65
19.68
4.2
1.3
—
—
—
0
0
42
99
7.02
18.90
5.2
2.2
—
—
—
0
0
22
9
31.63
16.98
4.6
1.1
—
—
—
0
0
22
9
31.63
16.98
4.6
1.1
—
—
—
0
0
22
9
31.63
16.98
4.6
1.1
—
—
—
0
0
22
9
31.63
16.98
4.6
1.1
—
—
—
0
0
25
16
21.00
16.94
1.4
1.3
250.66
363.16
ug/g
—
8
8
56
197
5.79
15.70
12.6
3.1
7.39
7.39
ph
0.17
49
134
63
251
5.91
15.07
28.1
5.8
—
—
—
0
0
36
91
5.89
14.60
10.6
8.8
103.44
105.00
mmol/l
0.80
36
91
32
74
6.13
14.25
4.8
1.5
—
—
—
0
0
71
332
6.18
13.50
24.3
5.9
1.21
1.21
mmol/l
0.13
62
280
29
65
6.08
13.27
10.2
5.4
0.82
0.47
%
0.43
11
17
67
302
5.62
13.23
17.3
5.8
1.21
1.21
mmol/l
0.01
67
271
48
174
4.72
12.31
4.9
1.8
1.18
1.14
mg/l
0.03
34
127
29
70
5.61
12.16
10.7
5.1
0.92
0.73
%
0.20
12
22
28
67
5.59
11.83
11.0
5.3
0.00
0.17
%
0.73
11
18
28
68
5.50
11.62
11.0
5.8
0.00
0.37
%
—
10
16
48
183
4.43
11.33
10.2
4.7
—
—
—
0
0
73
391
5.38
10.63
31.0
6.4
0.66
0.56
e9/l
1.32
65
357
10
0
+∞
10.62
3.6
0.0
—
—
—
0
0
73
393
5.34
10.51
30.9
6.4
0.04
0.04
e9/l
0.07
65
358
67
342
4.64
10.26
36.8
10.8
0.00
0.00
e9/l
-0.00
55
282
74
408
5.36
10.19
31.3
6.3
1.89
1.88
e9/l
0.03
68
381
74
411
5.28
10.01
32.3
6.5
0.20
0.18
e9/l
0.69
67
378
14
9
18.07
9.38
19.5
2.0
—
—
—
0
0
23
56
5.16
9.38
6.6
3.3
1.23
1.23
mmol/l
0.03
23
47
8
0
+∞
8.46
2.5
0.0
—
—
—
0
0
12
9
15.11
7.63
1.2
1.4
—
—
—
0
0
23
66
4.33
7.58
8.3
9.7
7.39
7.42
ph
—
10
34
40
169
3.44
7.53
13.1
2.4
399.46
342.75
umol/l
1.80
35
149
49
235
3.35
7.50
16.0
5.1
—
—
—
0
0
33
124
3.61
7.45
5.8
3.0
1.91
1.41
e6/l
0.24
22
58
7
0
+∞
7.38
4.7
0.0
2.11
—
mg/l
—
7
0
14
16
10.11
7.36
8.1
4.1
5.51
3.67
e9/l
1.10
14
16
30
109
3.61
7.08
1.5
1.4
182.86
534.74
titre
—
7
19
42
190
3.25
6.98
3.4
1.5
2.57
2.57
g/l
0.00
33
107
22
65
4.14
6.95
8.7
9.8
0.96
0.14
mmol/l
0.43
17
56
72
450
3.87
6.92
33.6
9.6
4.16
3.97
e9/l
0.36
66
405
12
12
11.31
6.77
4.3
1.9
10.78
4.99
pmol/l
0.88
12
12
41
186
3.19
6.74
5.5
3.3
75.70
61.42
mg/l
0.09
31
115
10
7
15.82
6.56
1.1
1.4
—
—
—
0
0
6
0
+∞
6.31
1.0
0.0
—
—
—
0
0
41
192
3.07
6.30
7.0
3.9
11.36
9.76
mg/mmol
0.06
31
115
53
288
3.01
6.21
9.9
4.0
64.24
81.70
e6/l
0.11
48
205
13
18
8.22
6.18
7.2
1.8
7.40
7.42
ph
0.68
13
18
17
45
4.42
6.14
12.3
10.9
26.02
24.39
mmol/l
0.83
17
45
20
61
3.92
6.00
3.2
3.4
63.92
67.83
e9/l
0.24
12
49
14
23
6.99
5.97
8.2
3.5
61.43
55.45
%
0.88
14
23
11
13
9.44
5.74
3.0
2.7
92.97
88.14
%
0.80
11
13
19
60
3.74
5.41
14.6
10.6
—
—
—
0
0
18
55
3.83
5.36
1.9
1.5
—
—
—
0
0
43
227
2.70
5.06
5.4
3.3
7.50
8.08
mmol/l
0.31
38
191
42
220
2.69
5.01
1.8
1.4
0.46
1.02
u/ml
—
9
40
14
31
5.14
4.80
1.8
3.3
—
—
—
0
0
10
14
7.87
4.79
6.3
2.0
—
—
—
0
0
20
71
3.33
4.76
7.9
3.4
7.38
7.37
ph
0.08
11
35
48
281
2.50
4.42
3.1
1.8
1.29
1.37
mmol/l
0.25
42
237
48
281
2.50
4.42
3.3
1.9
—
—
—
0
0
9
13
7.54
4.27
3.0
2.3
16.03
15.17
%
—
9
13
20
76
3.09
4.24
1.2
1.4
—
—
—
0
0
26
116
2.74
4.14
1.8
1.6
1344.75
1294.84
nmol/l
0.07
16
81
7
7
10.69
4.08
1.1
1.4
105.57
122.43
pmol/l
—
7
7
11
23
5.29
4.02
1.5
1.2
—
—
—
0
0
11
23
5.29
4.02
1.5
1.2
118.00
169.80
au/ml
—
5
10
8
11
7.84
3.95
1.3
1.5
—
—
—
0
0
21
86
2.87
3.90
1.2
1.2
—
—
—
0
0
15
50
3.39
3.90
1.3
1.3
—
—
—
0
0
13
35
4.16
3.78
1.4
1.2
—
—
—
0
0
59
402
2.33
3.60
6.3
3.4
0.00
0.00
estimate
-0.00
26
90
8
13
6.63
3.58
2.3
2.5
—
—
—
0
0
6
6
10.58
3.55
2.8
3.7
11.38
15.25
mu/l
—
6
6
59
404
2.31
3.53
6.3
3.4
0.00
0.00
estimate
-0.00
25
93
42
255
2.20
3.32
5.5
3.3
27.64
40.93
ng/l
0.52
31
169
59
412
2.23
3.26
6.3
3.4
0.00
0.00
estimate
-0.00
23
88
9
21
4.63
3.08
1.0
1.1
—
—
—
0
0
7
12
6.21
3.08
1.0
1.6
—
—
—
0
0
47
305
2.12
3.07
2.4
1.9
78.95
101.54
pmol/l
2.83
26
145
5
5
10.47
3.01
1.2
1.4
28.80
29.20
s
—
5
5
5
5
10.47
3.01
1.0
1.2
301.00
199.00
pmol/l
—
5
5
12
38
3.48
2.99
1.3
2.5
—
—
—
0
0
34
197
2.16
2.96
22.4
6.0
—
—
—
0
0
17
72
2.67
2.94
6.4
3.4
—
—
—
0
0
67
505
2.24
2.89
11.4
4.0
—
—
—
0
0
66
495
2.21
2.88
10.7
3.8
—
—
—
0
0
30
168
2.17
2.82
4.4
3.5
—
—
—
0
0
37
225
2.09
2.82
4.1
2.6
—
—
—
0
0
7
14
5.32
2.78
7.9
1.6
8.21
8.84
kpa
—
7
14
7
14
5.32
2.78
8.0
1.6
4.97
4.79
kpa
—
7
14
5
6
8.72
2.78
1.2
1.2
65.42
35.35
mu/l
—
5
6
5
6
8.72
2.78
1.4
1.8
—
—
—
0
0
82
699
2.75
2.66
7.2
4.4
1.44
1.45
mmol/l
0.08
76
643
6
11
5.75
2.58
1.2
1.9
—
—
—
0
0
5
7
7.47
2.58
3.4
1.3
13.44
7.54
ug/l
—
5
7
8
21
4.07
2.53
1.3
1.2
—
—
—
0
0
46
315
1.93
2.43
4.5
3.2
6.43
6.25
ph
0.48
28
165
5
8
6.53
2.40
2.6
1.1
16.64
19.38
ng/l
—
5
8
82
706
2.63
2.35
7.4
4.5
4.01
4.60
mmol/l
5.46
76
654
10
35
3.08
2.29
10.3
3.2
—
—
—
0
0
79
663
2.45
2.26
5.8
3.8
1.36
1.22
mmol/l
1.00
72
603
16
75
2.38
2.24
1.8
1.7
—
—
—
0
0
36
233
1.90
2.21
5.6
3.6
0.00
0.00
estimate
-0.00
23
88
7
19
3.90
2.20
2.0
1.3
—
—
—
0
0
6
14
4.51
2.19
1.2
1.4
16.40
10.96
mg/l
—
6
14
82
717
2.45
2.05
7.6
5.0
2.09
2.73
mmol/l
8.89
77
659
22
123
2.04
2.03
2.5
3.3
1233.00
152.95
ng/l
1.14
15
77
36
241
1.82
1.95
5.9
2.7
0.00
0.00
estimate
-0.00
24
76
8
28
3.03
1.91
2.0
1.8
0.25
0.23
g/l
—
8
28
6
17
3.70
1.87
1.8
1.9
46.17
61.56
%
—
6
17
72
600
1.96
1.83
6.7
4.2
14.75
14.70
pmol/l
0.05
66
547
6
142
0.38
1.71
1.0
1.6
—
—
—
0
0
46
341
1.71
1.70
4.7
2.9
—
—
estimate
—
0
0
43
313
1.71
1.70
5.8
3.2
0.00
0.00
estimate
-0.00
24
75
8
32
2.64
1.64
2.4
1.7
—
—
—
0
0
12
57
2.27
1.63
5.3
2.5
0.32
0.26
e6/l
0.09
12
52
10
44
2.43
1.62
15.7
11.9
0.68
0.68
%
—
10
44
23
143
1.81
1.54
1.3
1.4
39.75
17.77
iu/ml
—
8
36
10
46
2.32
1.46
15.7
11.7
93.72
93.16
%
—
10
46
5
16
3.24
1.46
1.0
1.1
—
—
—
0
0
9
41
2.32
1.41
1.8
3.3
0.94
0.58
%
—
9
41
15
84
1.94
1.37
1.4
1.3
—
—
—
0
0
86
795
2.49
1.37
37.8
11.3
—
—
—
0
0
10
48
2.22
1.33
15.7
11.3
1.42
1.51
%
—
10
48
79
704
1.93
1.29
8.7
5.0
2.20
1.85
mu/l
1.53
74
646
0
34
0.00
1.18
0.0
1.8
—
—
—
0
0
7
30
2.44
1.15
1.1
1.2
—
—
—
0
0
7
31
2.36
1.13
2.1
2.4
—
4.38
—
0
6
5
21
2.46
1.10
1.4
1.2
—
—
—
0
0
30
223
1.52
1.00
3.0
2.7
—
—
—
0
0
0
29
0.00
0.99
0.0
1.5
—
1.22
—
0
20
0
29
0.00
0.99
0.0
1.5
—
—
—
0
0
0
31
0.00
0.98
0.0
1.6
—
—
—
0
0
6
27
2.31
0.95
3.5
2.3
—
—
—
0
0
32
247
1.46
0.88
1.5
1.5
—
—
—
0
0
14
90
1.66
0.84
2.3
1.6
—
—
—
0
0
8
48
1.73
0.81
3.4
3.2
—
—
—
0
0
24
181
1.44
0.73
2.2
1.8
—
—
—
0
0
19
137
1.49
0.72
2.2
1.6
—
—
—
0
0
5
27
1.90
0.69
2.6
1.2
—
—
—
0
0
6
38
1.62
0.55
5.5
2.2
1.02
1.02
ratio
—
6
38
29
237
1.33
0.55
6.1
3.1
—
—
—
0
0
27
220
1.32
0.52
2.2
2.4
—
—
—
0
0
12
85
1.47
0.50
1.8
1.1
—
—
—
0
0
8
56
1.47
0.44
11.5
4.5
7.39
7.37
ph
—
8
39
6
43
1.42
0.36
1.2
1.2
—
—
—
0
0
25
288
0.82
0.32
4.9
2.8
—
—
—
0
0
16
135
1.22
0.23
1.2
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
8
67
1.21
0.17
1.0
2.3
—
—
—
0
0
8
68
1.19
0.17
1.0
2.2
—
—
—
0
0
8
69
1.17
0.17
1.0
2.2
—
—
—
0
0
8
69
1.17
0.17
1.0
2.2
—
—
—
0
0
6
54
1.12
0.09
1.0
2.4
—
—
—
0
0
7
65
1.08
0.08
1.0
2.3
—
—
—
0
0
13
129
1.01
0.00
1.5
1.3
17.97
5.11
u/ml
—
7
52
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
0.56
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
193.29
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
197.48
—
0
8
0
8
0.00
-0.00
0.0
5.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
95.95
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
18.6
—
773.00
—
0
7

Mortality – FinRegistry

Association

Association between endpoint E4_CYSTFIBRO and mortality.

Females

Parameter HR [95% CI] p-value
E4_CYSTFIBRO 1.906 [1.37, 2.65] < 0.001
Birth year 0.991 [0.98, 1.0] 0.052

During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 217 females with E4_CYSTFIBRO died.

Males

Parameter HR [95% CI] p-value
E4_CYSTFIBRO 3.247 [2.14, 4.92] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 225 males with E4_CYSTFIBRO died.

Mortality risk

Mortality risk for people of age

years, who have E4_CYSTFIBRO.

N-year risk Females Males
1 0.193% 0.647%
5 1.046% 3.558%
10 2.484% 9.085%
15 4.779% 17.249%
20 8.026% 28.099%

Relationships between endpoints

Index endpoint: E4_CYSTFIBRO – Cystic fibrosis

GWS hits: 9

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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