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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

71

4. Check minimum number of events

None

71

5. Include endpoints

91

6. Filter based on genotype QC (FinnGen only)

88

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 88 50 38
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 35.49 34.32 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
27.7
47.1
37
22
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
146.1
41.0
41
5
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
13.7
27.9
31
33
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
14.2
27.1
29
29
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
10.5
26.2
38
58
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
36.1
25.9
33
14
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
25.2
23
*
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
151.7
22.7
23
*
TGC00
NOMESCO Finland
Bronchial lavation
80.2
22.1
24
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.8
22.0
51
128
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
7.9
21.9
45
100
GD1AA
NOMESCO Finland
Thorax X-ray examination
9.0
21.7
69
236
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
47
117
UDH02
NOMESCO Finland
Rhinopharyngoscopy
10.0
19.8
27
37
L04AA06
ATC
mycophenolic acid; systemic
67.2
18.9
21
*
R4190
NOMESCO Finland
Nutritional therapy
25.4
18.7
26
14
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
37.7
18.5
23
8
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
*
E84
ICD-10 Finland
Cystic fibrosis
+∞
17.2
16
*
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
*
GD1AD
NOMESCO Finland
Thorax CT examination
21.0
16.9
25
16
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
+∞
16.1
15
*
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
18.7
15.6
24
17
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
31.5
15.5
20
8
R4110
NOMESCO Finland
Physiotherapy
5.7
15.3
46
139
WX408
NOMESCO Finland
General anesthesy, balanced
5.7
15.3
43
123
J01MA02
ATC
ciprofloxacin; systemic
5.5
15.1
53
183
J01MA12
ATC
levofloxacin; systemic
6.0
15.0
36
89
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
15.0
14
*
SPAT1262
SPAT
Handing over of treatment supplies
6.7
14.8
29
59
J33.0
ICD-10 Finland
Polyp of nasal cavity
63.8
14.3
16
*
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
20.5
14.3
21
13
XG410
NOMESCO Finland
Flow-volume spirometry
22.8
14.1
20
11
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
14.4
14.1
24
22
ZX120
NOMESCO Finland
Intravenous
8.0
14.0
22
35
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
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
6.4
13.7
28
59
WX404
NOMESCO Finland
Intravenous generell anesthesy
5.4
13.5
38
107
TDM10
NOMESCO Finland
Puncture of maxillary antrum
15.7
13.5
22
18
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
5.0
13.3
48
166
R03AK06
ATC
salmeterol and fluticasone; inhalant
6.2
13.2
28
61
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
13.4
12.6
22
21
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
13.4
12.6
22
21
R03BA05
ATC
fluticasone; inhalant
5.2
12.6
36
102
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
14.0
12.3
21
19
Z3229
NOMESCO Finland
Other healthcare associate professional
7.1
12.1
21
37
UJF32
NOMESCO Finland
Coloscopy
5.1
12.1
35
100
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
10.5
12.1
24
30
103
Kela drug reimbursment
Diabetes, insulin-treated
4.9
11.8
36
107
UDC00
NOMESCO Finland
Ear microscopy
7.0
11.6
20
35
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
29.5
11.6
15
6
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
5.4
11.4
28
69
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
ZXA10
NOMESCO Finland
Bilateral
4.8
10.9
33
97
TPH04
NOMESCO Finland
Cathetrisation of vein
4.8
10.9
33
97
215
Kela drug reimbursment
Diabetes, non-insulin-treated
4.8
10.9
33
97
A10AB05
ATC
insulin aspart; parenteral
9.6
10.7
22
29
B05XA03
ATC
sodium chloride; parenteral
+∞
10.6
10
*
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
10.6
10
*
R07AX02
ATC
ivacaftor; oral
+∞
10.6
10
*
3045, ,
Kela drug reimbursment
+∞
10.6
10
*
ZXE10
NOMESCO Finland
More than one and less than three hours
4.2
10.3
47
186
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
19.6
10.3
15
9
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
29.9
10.1
13
5
Z3226
NOMESCO Finland
Physiotherapist
4.5
10.1
32
97
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
4.5
9.9
32
98
Z31.5
ICD-10 Finland
Genetic counselling
8.8
9.7
21
30
UDM02
NOMESCO Finland
Sinoscopy
34.1
9.7
12
*
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
111.1
9.6
10
*
J01MA14
ATC
moxifloxacin; systemic
8.5
9.5
21
31
XX4BW, ,
NOMESCO Finland
+∞
9.5
9
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
9.5
9
*
H02AB06
ATC
prednisolone; systemic
3.9
9.4
54
247
R03BA02
ATC
budesonide; inhalant
4.3
9.1
30
93
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
J01CF05
ATC
flucloxacillin; systemic
8.3
8.6
19
28
DPA30
NOMESCO Finland
Sphenotomy
98.8
8.6
9
*
RS123, ,
NOMESCO Finland
98.8
8.6
9
*
DHB20
NOMESCO Finland
Polypectomy of internal nose
+∞
8.5
8
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
7.2
8.3
20
34
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
37.0
8.3
10
*
Z94.0
ICD-10 Finland
Kidney transplant status
37.0
8.3
10
*
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
37.0
8.3
10
*
R03AK07
ATC
formoterol and budesonide; inhalant
4.2
8.2
28
88
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
12.5
8.1
14
13
Z2446
NOMESCO Finland
Social worker
7.2
7.9
19
32
WX302
NOMESCO Finland
Thoracal epidural anesthesy
13.5
7.9
13
11
J47
ICD-10 Finland
Bronchiectasis
20.6
7.8
11
6
A02BA03
ATC
famotidine; systemic
15.1
7.6
12
9
R05CB02
ATC
bromhexine; systemic
86.9
7.5
8
*
A05AA02
ATC
ursodeoxycholic acid; oral
17.6
7.4
11
7
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
32.9
7.3
9
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.2
7.3
23
68
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
8.7
7.2
15
20
A06AD11
ATC
lactulose; oral
4.9
7.2
18
44
A10AE05
ATC
insulin detemir; parenteral
9.5
7.1
14
17
R03AC02
ATC
salbutamol; inhalant
3.6
7.1
66
387
OAB50, ,
SPAT
9.0
6.9
14
18
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
11.3
6.8
12
12
C03CA01
ATC
furosemide; systemic
3.5
6.7
30
113
ZXD05
NOMESCO Finland
Urgent procedure
3.2
6.6
39
174
WX872
NOMESCO Finland
Intensive care
8.1
6.5
14
20
R01AD08
ATC
fluticasone; nasal
3.1
6.5
39
175
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.4
6.5
18
48
I25.1
ICD-10 Finland
Atherosclerotic heart disease
4.1
6.4
20
58
TPH30
NOMESCO Finland
Insertion of central venous catheter through periferal vein
28.9
6.3
8
*
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
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.3
6
*
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.6
6.2
16
40
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
7.3
6.1
14
22
ZXD10
NOMESCO Finland
Scheduled procedure
3.0
6.1
44
217
WX402
NOMESCO Finland
General anaesthesia
3.5
6.1
25
88
ZXE40
NOMESCO Finland
More than seven and less than nine hours
16.4
6.0
9
6

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
38
42
14.82
33.80
5.1
2.7
77.94
64.97
ng/l
0.49
33
36
44
68
11.59
30.49
12.3
1.3
—
—
—
0
0
25
5
67.86
22.48
3.4
1.0
13.03
28.16
umol/l
—
25
5
30
49
8.64
19.05
3.5
1.2
—
—
—
0
0
33
66
7.28
17.31
3.7
1.3
—
—
—
0
0
38
90
6.53
16.78
5.1
2.1
—
—
—
0
0
37
88
6.40
16.20
4.7
2.1
19.35
22.36
%
0.61
31
77
32
67
6.82
15.93
10.3
5.4
103.56
104.79
mmol/l
0.49
32
67
52
171
5.76
15.80
10.6
3.0
7.39
7.40
ph
0.70
21
35
22
12
23.66
15.64
1.3
1.2
228.47
339.66
ug/g
—
6
5
31
69
6.30
14.38
4.5
1.5
—
—
—
0
0
66
288
5.70
13.74
21.4
4.4
1.21
1.22
mmol/l
0.28
54
240
27
55
6.56
13.65
9.0
4.6
0.78
0.33
%
—
9
15
47
158
5.08
13.50
4.3
1.6
1.26
1.01
mg/l
0.17
32
112
26
55
6.22
12.58
9.5
4.6
0.00
0.07
%
—
8
14
27
61
5.87
12.17
9.4
4.3
0.70
0.81
%
—
10
21
26
58
5.88
11.85
9.8
4.5
0.00
0.18
%
—
9
17
70
355
5.21
11.18
27.3
5.3
27.13
29.10
%
0.96
65
339
66
321
4.84
11.12
27.3
8.6
0.00
0.00
e9/l
-0.00
55
263
43
153
4.43
11.10
10.0
4.5
—
—
—
0
0
68
339
4.98
11.06
27.5
5.3
2.83
2.85
%
0.03
63
317
68
340
4.96
10.99
27.6
5.5
9.12
8.39
%
0.60
63
322
69
349
5.04
10.98
25.7
5.1
57.93
56.05
%
0.71
64
332
66
324
4.77
10.90
28.1
5.4
0.60
0.66
%
0.46
61
306
70
361
5.07
10.78
26.6
5.6
0.66
0.56
e9/l
1.22
63
331
70
362
5.05
10.71
26.6
5.6
0.04
0.04
e9/l
0.13
63
330
10
0
+∞
10.62
3.6
0.0
—
—
—
0
0
71
379
4.97
10.21
26.9
5.5
1.90
1.89
e9/l
0.05
66
354
70
372
4.82
10.07
28.2
5.8
0.20
0.18
e9/l
0.54
65
343
45
180
3.97
9.62
16.2
5.6
—
—
—
0
0
13
7
21.34
9.24
19.1
1.7
—
—
—
0
0
55
263
3.76
8.82
17.1
10.1
1.20
1.19
inr
0.03
28
90
64
340
3.97
8.70
32.9
6.5
—
—
—
0
0
39
150
3.80
8.68
4.4
2.9
127.62
73.66
mg/l
0.29
29
89
21
51
5.05
8.54
6.1
3.3
1.23
1.23
mmol/l
0.02
21
45
45
194
3.61
8.37
6.5
2.7
—
—
—
0
0
72
421
4.40
8.35
28.3
8.9
4.22
3.97
e9/l
0.50
65
381
40
161
3.65
8.25
5.5
3.5
18.66
11.68
mg/mmol
0.25
30
93
40
163
3.59
8.06
2.2
1.4
1.31
1.35
mmol/l
0.09
34
140
41
172
3.52
7.87
3.0
1.5
2.69
2.61
g/l
0.06
31
92
20
51
4.74
7.64
8.7
4.9
0.85
0.38
mmol/l
0.18
15
41
44
198
3.37
7.47
7.0
2.8
0.04
0.29
e6/l
2.33
39
146
7
0
+∞
7.38
4.4
0.0
2.11
—
mg/l
—
7
0
7
0
+∞
7.38
2.4
0.0
—
—
—
0
0
14
16
10.11
7.36
8.1
4.1
5.51
3.67
e9/l
1.10
14
16
14
17
9.51
7.13
8.2
4.4
61.43
53.06
%
1.40
14
17
27
92
3.75
7.00
1.5
1.3
160.00
517.65
titre
—
6
17
41
186
3.19
6.74
4.3
3.0
7.23
7.89
mmol/l
0.35
35
157
37
158
3.26
6.73
11.6
2.2
405.53
3381.67
umol/l
0.48
32
135
49
251
3.06
6.46
8.4
3.7
69.29
57.04
e6/l
0.08
44
178
6
0
+∞
6.31
1.0
0.0
—
—
—
0
0
29
114
3.27
5.95
5.4
2.8
1.91
1.40
e6/l
0.25
22
59
39
192
2.80
5.30
1.7
1.4
0.41
1.15
u/ml
—
7
31
8
6
14.43
5.18
1.1
1.5
—
—
—
0
0
8
6
14.43
5.18
2.3
3.2
—
—
—
0
0
9
9
10.93
5.15
2.6
3.2
—
—
—
0
0
18
57
3.69
5.09
8.3
3.4
—
—
—
0
0
10
13
8.48
5.00
5.9
2.0
—
—
—
0
0
21
76
3.29
4.85
1.1
1.2
—
—
—
0
0
14
31
5.14
4.80
1.6
3.3
—
—
—
0
0
19
68
3.27
4.45
1.1
1.4
—
—
—
0
0
26
114
2.79
4.29
1.7
1.6
1344.75
1285.75
nmol/l
0.09
16
79
14
42
3.76
4.24
1.2
1.3
—
—
—
0
0
13
31
4.71
4.21
1.4
1.3
—
—
—
0
0
43
244
2.45
4.18
2.3
1.8
79.90
100.88
pmol/l
2.20
24
117
45
264
2.39
4.03
3.2
1.9
—
—
—
0
0
16
55
3.32
3.97
1.6
1.4
—
—
—
0
0
41
232
2.40
3.97
4.5
3.1
34.96
42.52
ng/l
0.15
30
146
8
11
7.84
3.95
4.3
1.9
—
—
—
0
0
8
12
7.18
3.76
3.3
2.3
16.41
14.34
%
—
8
5
12
30
4.44
3.76
15.3
3.6
25.07
24.86
mmol/l
0.05
12
30
19
75
2.94
3.76
4.4
2.8
1.55
1.57
%
0.03
14
70
52
332
2.32
3.75
5.2
3.2
0.00
0.00
estimate
-0.00
20
77
35
191
2.35
3.61
3.8
2.2
—
—
—
0
0
52
336
2.28
3.60
7.4
4.1
0.00
0.00
estimate
-0.00
20
73
14
47
3.34
3.59
18.1
5.2
—
—
—
0
0
52
341
2.22
3.42
5.2
3.2
0.00
0.00
estimate
-0.00
19
73
7
11
6.79
3.25
1.1
1.5
—
—
—
0
0
9
20
4.87
3.21
1.4
1.2
—
—
—
0
0
9
21
4.63
3.08
13.9
6.0
—
—
—
0
0
17
71
2.71
3.02
5.9
3.3
—
—
—
0
0
5
5
10.47
3.01
1.0
1.6
—
—
—
0
0
8
17
5.05
2.99
1.6
2.9
—
—
—
0
0
34
197
2.16
2.96
5.2
2.8
—
—
—
0
0
63
465
2.15
2.85
10.8
3.7
—
—
—
0
0
79
643
2.73
2.79
5.3
3.4
1.35
1.22
mmol/l
0.85
72
580
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
3.0
3.3
12.86
15.32
mu/l
—
5
6
6
10
6.33
2.74
1.0
1.6
—
—
—
0
0
81
670
2.90
2.72
6.1
3.7
1.42
1.46
mmol/l
0.32
75
608
61
451
2.07
2.67
9.2
3.4
—
—
—
0
0
7
15
4.96
2.65
1.9
1.3
—
—
—
0
0
16
70
2.56
2.59
1.8
1.7
—
—
—
0
0
81
675
2.82
2.58
6.2
3.8
4.03
4.63
mmol/l
5.29
75
619
26
142
2.16
2.58
3.4
3.3
—
—
—
0
0
5
7
7.47
2.58
2.4
1.1
—
—
—
0
0
70
549
2.19
2.56
5.7
3.6
14.54
14.64
pmol/l
0.12
63
493
79
659
2.51
2.36
7.3
4.2
2.17
1.89
mu/l
1.03
72
592
6
13
4.86
2.31
1.2
1.5
16.40
11.46
mg/l
—
6
13
81
686
2.64
2.29
6.4
4.1
2.16
2.77
mmol/l
8.43
75
622
21
111
2.16
2.24
2.5
3.0
1320.00
224.49
ng/l
1.05
14
72
32
199
1.94
2.21
2.6
2.5
—
—
—
0
0
8
25
3.41
2.15
2.0
1.6
0.25
0.23
g/l
—
8
25
9
31
3.11
2.14
11.2
2.8
—
—
—
0
0
5
10
5.22
2.10
1.8
1.2
—
—
—
0
0
7
21
3.52
2.01
1.0
1.1
—
—
—
0
0
39
266
1.82
2.00
4.1
3.1
—
5.78
—
0
16
30
189
1.88
1.97
5.1
3.7
0.00
0.00
estimate
-0.00
17
71
5
11
4.74
1.96
1.2
1.9
—
—
—
0
0
86
775
2.99
1.96
33.6
10.0
—
—
—
0
0
5
12
4.34
1.85
1.6
1.8
—
—
—
0
0
8
32
2.64
1.64
1.3
2.4
—
—
—
0
0
82
731
2.23
1.63
51.6
11.0
16.69
21.74
mg/l
1.62
75
536
20
117
1.91
1.62
1.3
1.4
30.57
18.37
iu/ml
—
7
32
14
74
2.05
1.49
1.4
1.3
—
—
—
0
0
6
24
2.60
1.32
1.3
4.6
—
—
—
0
0
6
24
2.60
1.32
1.8
1.4
—
—
—
0
0
76
670
1.81
1.28
5.9
3.8
6.16
5.72
mmol/l
2.11
70
600
5
19
2.72
1.23
2.4
1.2
—
—
—
0
0
7
31
2.36
1.13
20.1
5.1
95.60
93.16
%
—
7
31
15
90
1.80
1.12
1.2
2.3
182.60
91.54
ug/g
—
10
65
7
33
2.21
1.08
20.1
4.7
0.86
0.77
%
—
7
33
7
34
2.14
1.05
20.1
4.7
1.29
1.86
%
—
7
34
26
186
1.56
1.03
5.7
3.0
—
—
—
0
0
0
28
0.00
0.99
0.0
1.5
—
—
—
0
0
0
28
0.00
0.99
0.0
1.5
—
—
—
0
0
0
30
0.00
0.99
0.0
1.5
—
—
—
0
0
0
32
0.00
0.97
0.0
1.8
—
—
—
0
0
6
27
2.31
0.95
3.5
2.2
—
—
—
0
0
6
112
0.50
0.90
1.0
1.5
—
—
—
0
0
6
31
2.00
0.86
1.8
3.1
0.92
0.60
%
—
6
31
6
32
1.94
0.83
5.5
2.3
—
—
—
0
0
8
48
1.73
0.81
3.4
3.2
—
—
—
0
0
12
76
1.67
0.76
1.7
1.1
—
—
—
0
0
12
77
1.64
0.73
2.2
1.6
—
—
—
0
0
5
29
1.76
0.65
1.2
1.2
—
—
—
0
0
8
52
1.59
0.61
11.5
3.6
—
—
—
0
0
17
124
1.46
0.61
2.3
1.5
—
—
—
0
0
8
53
1.56
0.60
1.0
2.2
—
—
—
0
0
8
54
1.53
0.59
1.0
2.2
—
—
—
0
0
8
54
1.53
0.59
1.0
2.2
—
—
—
0
0
8
54
1.53
0.59
1.0
2.2
—
—
—
0
0
27
217
1.35
0.57
1.4
1.5
—
—
—
0
0
6
39
1.58
0.54
1.0
2.4
—
—
—
0
0
21
165
1.35
0.51
2.1
1.7
—
—
—
0
0
7
46
1.56
0.49
2.7
2.2
—
—
—
0
0
86
827
1.73
0.48
62.4
16.2
38.09
40.41
%
2.10
79
780
7
50
1.43
0.46
1.0
2.3
—
—
—
0
0
24
198
1.29
0.42
2.1
2.2
—
—
—
0
0
5
36
1.41
0.39
1.2
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
14
120
1.20
0.17
1.1
1.8
—
—
—
0
0
12
111
1.09
0.04
1.5
1.3
0.97
5.60
u/ml
—
6
47
25
242
1.05
0.02
3.8
2.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
16.7
—
1265.00
—
0
7
0
8
0.00
-0.00
0.0
5.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
15.0
—
779.29
—
0
7
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
95.95
—
0
8
0
6
0.00
-0.00
0.0
1.0
—
185.83
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
197.47
—
0
8

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: 8

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