Disorders of iron metabolism

E4_IRON_MET

hereditary hemochromatosis type 1: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease

Suggest a new description

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519870

1. Apply sex-specific rule

None

519870

2. Check conditions

None

519870

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

Registry filters:

  • Hospital discharge: ICD-10 E83.1
  • Hospital discharge: ICD-9 2750
  • Cause of death: ICD-10 E83.1
  • Cause of death: ICD-9 2750

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

646

4. Check minimum number of events

None

646

5. Include endpoints

None

646

6. Filter based on genotype QC (FinnGen only)

614

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
E83
Name in latin
Perturbationes metabolismi ferri

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 2585 1043 1510
Only index persons 2299 965 1334
Unadjusted period prevalence (%)
Whole population 0.04 0.03 0.04
Only index persons 0.04 0.04 0.05
Median age at first event (years)
Whole population 55.61 56.88 54.60
Only index persons 55.33 56.71 54.33

-FinnGen-

Key figures

All Female Male
Number of individuals 614 293 321
Unadjusted period prevalence (%) 0.13 0.10 0.15
Median age at first event (years) 56.33 55.41 57.17

-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

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
646
Matched controls
6460
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E83.1
ICD-10 Finland
Disorders of iron metabolism
4503599627370496.0
307.7
638
*
TPH00
NOMESCO Finland
Phlebotomy
203.5
142.0
143
9
SPAT1074
SPAT
Venesection
125.0
90.8
96
9
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
12.5
75.7
78
70
TPH00, ,
SPAT
214.9
74.9
76
*
B99
ICPC
Blood/lymph/spleen disease other
120.2
61.1
65
6
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
12.9
58.2
58
49
M14.5*E83.1
ICD-10 Finland
Arthropathy in haemochromatosis
+∞
48.6
46
*
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
11.2
33.4
36
34
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.9
33.0
109
318
K76.9
ICD-10 Finland
Liver disease, unspecified
9.5
24.9
30
33
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
10.4
24.9
28
28
B04
ICPC
Blood symptom/complaint
24.1
15.2
21
9
Z31.5
ICD-10 Finland
Genetic counselling
3.5
14.7
52
157
B28
ICPC
Limited function/disability (B)
37.0
14.5
18
5
R74.0
ICD-10 Finland
Elevation of levels of transaminase and lactic acid dehydrogenase [LDH]
5.8
14.2
26
46
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
16.2
14.0
22
14
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
4.1
13.9
39
100
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
3.1
12.5
54
185
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.0
12.4
155
865
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.3
11.1
96
464
R53
ICD-10 Finland
Malaise and fatigue
1.9
11.0
160
939
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.9
10.5
179
1105
JN1DG
NOMESCO Finland
Very extensive MRI examination of upper part of abdomen with high intensity magnet
4.7
10.3
24
53
I85.9
ICD-10 Finland
Oesophageal varices without bleeding
10.9
9.8
18
17
TPW99
NOMESCO Finland
Other minor surgical procedure on peripheral vessel or lymphatic system
9.8
9.8
19
20
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
2.1
9.6
98
504
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
4.3
9.4
24
57
XW000
NOMESCO Finland
Bone marrow biopsy
3.3
9.4
35
109
M14.5
ICD-10 Finland
Arthropathies in other endocrine, nutritional and metabolic disorders
+∞
9.4
9
*
2750A
ICD-9 Finland
Disorders of mineral metabolism, Disorders of iron metabolism[HAEMOCHROMATOSIS]
+∞
9.4
9
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.5
8.9
56
234
V03AC03
ATC
deferasirox; oral
+∞
8.3
8
*
R94.5
ICD-10 Finland
Abnormal results of liver function studies
6.8
7.6
18
27
C22.0
ICD-10 Finland
Malignant neoplasm: Liver cell carcinoma
10.2
7.6
14
14
D75.1
ICD-10 Finland
Secondary polycythaemia
10.2
7.6
14
14
F41
ICD-10 Finland
Other anxiety disorders
4.3
7.5
19
45
D64.9
ICD-10 Finland
Anaemia, unspecified
2.3
7.5
60
280
Z01.8
ICD-10 Finland
Other specified special examinations
1.8
7.5
142
895
SPAT1377
SPAT
Polysomnography
3.4
7.5
26
78
B74
ICPC
Malignant neoplasm blood other
81.0
7.4
8
*
C03DA01
ATC
spironolactone; oral
2.2
7.4
66
322
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.6
7.4
279
2096
D83.1
ICD-10 Finland
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
+∞
7.3
7
*
127
Kela drug reimbursment
Transplant complication
6.4
7.3
18
29
G47.3
ICD-10 Finland
Sleep apnoea
1.7
7.2
158
1035
ZXA10
NOMESCO Finland
Bilateral
1.9
7.2
101
581
SPAT1263
SPAT
Sampling
1.6
7.1
246
1808
JN3AD
NOMESCO Finland
Abdominal CT examination
2.0
7.0
82
443
R06.0
ICD-10 Finland
Dyspnoea
1.7
7.0
156
1026
M16.1
ICD-10 Finland
Other primary coxarthrosis
2.0
6.9
74
388
R03AC02
ATC
salbutamol; inhalant
1.5
6.8
337
2672
E86
ICD-10 Finland
Volume depletion
22.8
6.7
9
*
H02AB06
ATC
prednisolone; systemic
1.5
6.7
285
2186
R79.8
ICD-10 Finland
Other specified abnormal findings of blood chemistry
7.9
6.6
14
18
K73.80
ICD-10 Finland
Non-alcoholic fatty liver (NASH, Non Alcoholic Steatohepatitis)
12.4
6.6
11
9
A41.5
ICD-10 Finland
Sepsis due to other Gram-negative organisms
3.2
6.5
25
80
UJF30
NOMESCO Finland
Ileoscopy through colon
2.0
6.3
67
349
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
9.4
6.3
12
13
N02AJ06
ATC
codeine and paracetamol; systemic
1.5
6.3
270
2067
E83.0
ICD-10 Finland
Disorders of copper metabolism
+∞
6.3
6
*
L04AA06
ATC
mycophenolic acid; systemic
4.0
6.2
17
43
A02BC02
ATC
pantoprazole; systemic
1.5
6.0
410
3442

TimeCodeWAS

TODO / Current known limitations:

  • Only showing the top 500 codes, because showing all (sometimes 20k) makes the page too slow.
  • Legend / how to read the glyphs.
  • Proper column names.
  • Show details (e.g. Fisher or Chi-square test, N cases and N controls) when clicking on a row.
  • Explanation on the underlying data / how the TimeCodeWAS is done (e.g. matched cases / controls, eligibility).
  • Download CSV not working.
  • No filters and sorters.
  • Limited amount of endpoints with TimeCodeWAS data.
  • Cross-links to Risteys lab test pages for lab test codes.
OMOP Concept
ln(OR) -5y
ln(OR) -1y
ln(OR) -1m
ln(OR) d0
ln(OR) +1m
ln(OR) +1y
ln(OR) +5y
MCC -5y
MCC -1y
MCC -1m
MCC d0
MCC +1m
MCC +1y
MCC +5y
Disorders of iron metabolism
E83.1 (45552418)
Phlebotomy
TPH00 (2001309596)
Arthropathy in haemochromatosis
M14.5*E83.1 (2000503029)
SMOKING - SMOKE2: no - SMOKE3: never - SMOKE5: Unspecified
SMOKING-2-3-0 (2002330113)
Body height measure
50373000 (4177340)
Body mass index
60621009 (4245997)
HFE gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
21697-8 (3027955)
Extensive structural and functional ultrasound examination of heart
FM1EE (2001303307)
Thorax X-ray examination
GD1AA (2001303617)
Ultrasound elastography of liver
JJ1LE (2001305253)
Ultrasound examination of upper part of abdomen
JN1AE (2001305517)
Abdominal ultrasound examination
JN3AE (2001305555)
Venesection
SPAT1074 (2001700175)
Smooth muscle Ab [Titer] in Serum
8095-2 (3007566)
Calcium.ionized [Moles/volume] in Serum or Plasma
1995-0 (3021347)
Ceruloplasmin [Mass/volume] in Serum or Plasma
2064-4 (3022756)
Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma
1825-9 (3026285)
Mitochondria Ab [Titer] in Serum
20483-4 (3034770)
Clinical Cytogenetics and Genomics
OMOP4822000 (32411)
Supplier / Service Provider
OMOP5117446 (33004)
Hematology
82 (38004501)
Other and unspecified cirrhosis of liver
K74.6 (45538546)
Genetic counselling
Z31.5 (45590715)
Fatty (change of) liver, not elsewhere classified
K76.0 (45601189)
Iron/Transferrin [Ratio] in Serum or Plasma
60517-0 (40763571)
Transferrin [Mass/volume] in Serum or Plasma
3034-6 (3004789)
Iron [Moles/volume] in Serum or Plasma
14798-3 (3022948)
Ferritin [Mass/volume] in Serum or Plasma
2276-4 (3001122)
Gastroenterology
10 (38004455)
Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
30248-9 (3015399)
Internal Medicine
11 (38004456)
Reticulocytes/Erythrocytes in Blood
4679-7 (3027945)
Bilirubin.total [Moles/volume] in Serum or Plasma
14631-6 (3006140)
Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
14804-9 (3022250)
Outpatient Visit
OP (9202)
Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
6768-6 (3035995)
Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
1920-8 (3013721)
Prothrombin time (PT) actual/Normal
5894-1 (3033658)
Phosphatidylethanol [Mass/volume] in Blood
74661-0 (44816559)
Tissue transglutaminase IgA Ab [Units/volume] in Serum
31017-7 (3019050)
testosterone; oral, parenteral, rectal, sublingual, transdermal
G03BA03 (21602510)
IgG [Mass/volume] in Serum or Plasma
2465-3 (3005719)
Albumin [Mass/volume] in Serum or Plasma
1751-7 (3024561)
Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
19176-7 (3015916)
CBC W Ordered Manual Differential panel - Blood
57782-5 (40760892)
INR in Blood by Coagulation assay
34714-6 (3032080)
MCH [Entitic mass]
28539-5 (3035941)
Hematocrit [Volume Fraction] of Blood by calculation
20570-8 (3009542)
Leukocytes [#/volume] in Blood
26464-8 (3010813)
Platelets [#/volume] in Blood
26515-7 (3007461)
MCV [Entitic mean volume] in Red Blood Cells
30428-7 (3024731)
Erythrocytes [#/volume] in Blood
26453-1 (3026361)
Hemoglobin [Mass/volume] in Blood
718-7 (3000963)
Nuclear Ab [Titer] in Serum
29953-7 (3037522)
Erythrocyte [DistWidth] in Red Blood Cells
30385-9 (3002385)
CBC panel - Blood by Automated count
58410-2 (40761511)
Folate [Moles/volume] in Serum or Plasma
14732-2 (3021960)
Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
1742-6 (3006923)
Microorganisms panel - Urine sediment
58435-9 (40761536)
IgA [Mass/volume] in Serum or Plasma
2458-8 (3007164)
Differential panel, method unspecified - Blood
69738-3 (42870588)
Testosterone [Moles/volume] in Serum or Plasma
14913-8 (3017446)
Bilirubin.conjugated [Moles/volume] in Serum or Plasma
29760-6 (3005772)
Prealbumin [Mass/volume] in Serum or Plasma
14338-8 (3013742)
C reactive protein [Mass/volume] in Serum or Plasma
1988-5 (3020460)
Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
33762-6 (3029187)
Folate [Moles/volume] in Red Blood Cells
14731-4 (3019309)
Monocytes/Leukocytes in Blood
26485-3 (3019069)
Basophils/Leukocytes in Blood
30180-4 (3022096)
Eosinophils/Leukocytes in Blood
26450-7 (3006504)
Monocytes [#/volume] in Blood
26484-6 (3001604)
Lymphocytes [#/volume] in Blood
26474-7 (3019198)
Basophils [#/volume] in Blood
26444-0 (3006315)
Lymphocytes/Leukocytes in Blood
26478-8 (3002030)
Normoblasts [#/volume] in Blood
715-3 (3021589)
Neutrophils/Leukocytes in Blood
26511-6 (3018010)
Eosinophils [#/volume] in Blood
26449-9 (3013115)
Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
2324-2 (3026910)
Holo-transcobalamin II [Moles/volume] in Serum
72160-5 (43054903)
Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)/1.73 sq M
62238-1 (40764999)
Office Visit
OMOP4822458 (581477)
Laboratory Visit
OMOP4822461 (32036)
Creatinine [Moles/volume] in Serum or Plasma
14682-9 (3020564)
Sodium [Moles/volume] in Serum or Plasma
2951-2 (3019550)
Case Management Agency
251B00000X (38004193)
Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method
4537-7 (3013707)
Potassium [Moles/volume] in Serum or Plasma
2823-3 (3023103)
Hepatitis B virus surface Ag [Presence] in Serum
5195-3 (3019284)
Amylase [Enzymatic activity/volume] in Serum or Plasma
1798-8 (3016771)
pH of Serum or Plasma
2753-2 (3018418)
Neutrophils [#/volume] in Blood by Automated count
751-8 (3013650)
25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
68438-1 (40771025)
IgM [Mass/volume] in Serum or Plasma
2472-9 (3028026)
MCHC [Entitic Mass/volume] in Red Blood Cells
28540-3 (3003338)
Cortisol [Moles/volume] in Serum or Plasma
14675-3 (3036481)
Reticulocytes [#/volume] in Blood
14196-0 (3023520)
Troponin T.cardiac [Mass/volume] in Serum or Plasma
6598-7 (3019800)
Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
19072-8 (3016431)
aPTT in Platelet poor plasma by Coagulation assay
14979-9 (3018677)
Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
21573-1 (3003031)
Malaise and fatigue
R53 (45553741)
Outpatient Hospital
22 (8756)
Pulmonary Disease
29 (38004472)
Magnesium [Moles/volume] in Serum or Plasma
2601-3 (3012095)
Thyroxine (T4) free [Moles/volume] in Serum or Plasma
14920-3 (3008486)
Thyrotropin [Units/volume] in Serum or Plasma
3016-3 (3009201)
12 lead EKG panel
34534-8 (3044889)
Cardiology
6 (38004451)
Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
14685-2 (3009035)
Esophagoscopy, gastroscopy and duodenoscopy
UJD10 (2001304788)
Fasting glucose [Moles/volume] in Serum or Plasma
14771-0 (3018251)
Essential (primary) hypertension
I10 (45591453)
Hepatitis C virus Ab [Presence] in Serum
16128-1 (3017143)
Hemoglobin A1c/Hemoglobin.total in Blood
4548-4 (3004410)
Medical doctor
Z2221 (2001311556)
One hour or less
ZXE00 (2001311394)
Cholesterol in HDL [Moles/volume] in Serum or Plasma
14646-4 (3023602)
Hepatitis B virus core Ab [Presence] in Serum
16933-4 (3021879)
Cholesterol [Moles/volume] in Serum or Plasma
14647-2 (3019900)
Triglyceride [Moles/volume] in Serum or Plasma --fasting
47210-0 (3048773)
Cholesterol in LDL [Moles/volume] in Serum or Plasma
22748-8 (3001308)

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
510
696
31.06
307.65
8.0
2.3
43.22
23.87
%
66.64
497
659
520
764
30.77
307.65
8.1
2.3
2.16
2.35
g/l
11.71
500
714
520
825
28.19
307.65
8.3
2.3
22.73
13.94
umol/l
69.73
506
778
592
2565
16.65
140.36
13.0
2.8
237.59
133.70
ug/l
8.67
576
2423
343
1275
4.60
81.67
3.8
2.1
2.38
3.00
mg/l
6.44
309
1114
187
503
4.82
65.95
3.0
2.5
0.24
0.22
g/l
2.72
178
472
396
1888
3.84
61.15
4.0
3.2
33.08
33.49
u/l
0.09
376
1793
428
2248
3.68
54.75
6.5
5.0
37.18
36.24
g/l
3.27
406
2123
476
2862
3.52
45.19
8.3
6.7
13.30
11.31
umol/l
1.62
468
2748
476
2882
3.48
44.24
6.9
6.7
1.93
1.96
e9/l
0.13
432
2586
469
2823
3.41
43.83
6.8
6.6
0.56
0.58
e9/l
1.27
417
2453
469
2831
3.40
43.45
6.8
6.6
0.04
0.04
e9/l
0.03
418
2458
474
2920
3.34
41.56
7.0
6.9
0.19
0.19
e9/l
0.11
430
2590
446
2658
3.19
41.32
6.9
6.7
30.97
28.03
%
8.20
426
2529
438
2591
3.14
40.98
7.0
6.8
0.75
0.70
%
1.29
417
2429
437
2599
3.11
40.15
7.1
6.8
9.02
8.90
%
0.46
415
2445
436
2597
3.09
39.81
7.0
6.7
3.06
2.91
%
0.74
415
2441
436
2607
3.07
39.33
6.7
6.6
53.99
56.97
%
7.30
423
2496
85
183
5.20
38.06
1.3
1.2
96.00
107.06
titre
10
17
340
1813
2.85
37.40
6.5
6.6
0
0
579
4187
4.69
36.52
11.9
8.1
78.90
78.15
u/l
0.16
566
3985
400
2343
2.86
36.37
13.5
11.6
1.18
1.19
inr
0.33
349
1948
100
278
4.07
32.33
2.0
1.7
0.34
0.36
mg/l
0.10
49
126
268
1344
2.70
32.02
4.9
4.9
0
0
190
800
2.95
31.70
1.5
1.4
595.12
467.64
titre
0.35
41
178
473
3157
2.86
31.22
9.1
10.1
3.56
4.02
e9/l
5.49
424
2767
137
501
3.20
29.04
2.2
2.1
357.05
362.03
nmol/l
0.12
130
477
144
543
3.13
28.96
3.5
3.0
2.00
1.75
%
1.44
131
499
251
1308
2.50
26.68
5.7
3.8
89.80
91.28
%
0.41
243
1282
117
417
3.21
25.70
3.8
3.2
84.76
69.87
e9/l
2.44
87
322
528
3941
2.86
24.40
5.4
3.2
58.95
46.27
u/l
2.47
513
3745
128
497
2.96
24.14
2.4
2.8
10.96
10.49
g/l
0.71
117
466
110
393
3.17
23.98
1.5
1.7
0.95
1.31
g/l
2.53
100
363
256
1409
2.35
23.46
2.5
3.0
621.75
877.85
ng/l
1.21
203
1179
380
2470
2.31
23.43
16.8
10.3
0.00
0.00
e9/l
0.51
318
2045
379
2526
2.21
21.11
10.0
7.0
1.22
1.21
mmol/l
1.01
320
2174
340
2245
2.09
18.50
8.6
6.5
1.22
1.21
mmol/l
0.96
314
2066
114
478
2.68
18.30
4.1
5.7
0.09
0.18
%
0.48
23
127
113
474
2.68
18.11
4.1
5.2
0.00
0.14
%
3.49
25
136
352
2384
2.05
17.54
3.0
2.4
73.20
76.75
nmol/l
1.57
320
2158
116
502
2.60
17.43
4.1
5.1
0.41
0.99
%
2.65
27
162
107
447
2.67
17.25
3.3
3.3
0
0
111
476
2.61
16.96
3.7
5.0
1.70
0.59
%
0.39
27
150
524
4165
2.37
16.61
5.1
3.9
14.71
14.67
pmol/l
0.15
486
3847
205
1163
2.12
16.30
1.6
1.5
2.54
2.49
g/l
0.13
158
757
236
1432
2.02
15.49
3.0
2.5
358.40
341.87
umol/l
1.78
214
1275
216
1281
2.03
15.03
1.4
1.3
1.24
1.47
u/ml
0.15
63
372
61
203
3.21
14.78
1.6
2.3
1.21
1.50
g/l
1.56
49
180
332
2293
1.92
14.69
2.3
2.0
97.04
98.18
pmol/l
0.17
181
1229
128
626
2.30
14.55
4.4
2.7
8.71
7.96
umol/l
0.14
121
557
39
97
4.21
14.46
1.2
1.2
14.70
37.80
u/l
1.04
34
83
147
765
2.19
14.37
2.0
1.6
1249.64
1219.26
nmol/l
0.14
117
595
234
1477
1.92
13.27
6.4
3.8
7.40
7.40
ph
0.10
173
1072
232
1469
1.90
12.97
2.0
1.6
19.52
19.83
nmol/l
0.09
184
1245
24
44
5.63
12.67
1.3
1.3
0
0
580
5032
2.49
11.65
6.5
4.7
1.94
1.88
mu/l
0.41
544
4658
129
691
2.08
11.49
1.8
1.6
0
0
145
813
2.01
11.40
4.6
3.6
0.81
0.83
mmol/l
1.11
136
779
122
643
2.11
11.34
2.8
2.4
14.89
14.03
nmol/l
0.59
108
604
28
68
4.26
10.71
2.4
2.6
34.79
32.60
pg
2.08
28
68
254
1737
1.76
10.57
3.3
2.4
59.32
63.33
u/l
0.35
236
1621
243
1642
1.77
10.53
3.5
2.7
0.03
0.06
estimate
0.25
106
483
66
282
2.49
10.02
3.0
3.3
4.58
4.52
pmol/l
0.22
55
254
115
621
2.04
9.94
10.3
5.5
1.03
1.01
mmol/l
0.48
106
584
160
977
1.85
9.58
2.8
2.5
531.95
556.76
mosm/kgh2o
0.62
148
851
150
900
1.87
9.48
1.9
1.7
0
0
277
1995
1.68
9.22
4.2
3.1
24.83
78.96
ng/l
0.89
189
1339
457
3756
1.74
9.17
4.8
4.0
2.60
0
6
27
72
3.87
9.14
2.4
2.3
0.85
0.95
%
0.41
13
54
161
1002
1.81
9.00
2.0
1.7
430.04
36830257.43
pmol/l
1.07
131
858
251
1775
1.68
8.87
3.4
3.5
2.35
2.35
mmol/l
0.16
228
1621
392
3115
1.66
8.70
6.5
4.8
6.68
6.56
mmol/l
0.55
377
2951
20
44
4.66
8.64
1.3
1.0
0
0
18
37
4.98
8.40
1.0
1.1
0
0
233
1647
1.65
8.08
4.1
3.5
0.00
0.00
estimate
0.80
117
564
584
5245
2.18
8.07
7.3
5.6
37.06
38.50
mmol/mol
4.40
562
4953
220
1544
1.64
7.79
2.1
2.1
152.89
238.57
u/l
0.86
209
1471
34
119
2.96
7.59
1.5
1.5
0
0
600
5487
2.31
7.25
20.1
13.6
18.73
23.79
mg/l
4.08
516
4433
296
2273
1.56
6.99
3.7
3.2
0.00
0.01
estimate
0.78
107
504
30
103
3.01
6.94
2.7
3.4
3.83
4.19
e9/l
0.35
30
103
363
2926
1.55
6.83
3.9
3.4
0.01
0.00
estimate
0.50
120
604
76
404
2.00
6.79
4.0
3.2
1.23
1.23
mmol/l
0.23
61
349
120
743
1.76
6.67
1.3
1.2
0
0
116
713
1.76
6.61
2.9
3.4
3.47
4.75
e9/l
2.58
94
639
358
2891
1.53
6.58
4.0
3.4
0.00
0.00
estimate
0.50
119
595
161
1087
1.64
6.47
1.3
1.3
33.87
34.95
iu/ml
0.03
31
322
172
1181
1.62
6.46
2.7
2.3
4.29
5.59
e6/l
0.72
159
1079
586
5359
2.01
6.30
6.2
4.7
5.87
5.87
mmol/l
0.02
553
4953
30
111
2.79
6.10
1.6
1.5
166.67
164.50
au/ml
6
31
63
326
2.03
6.07
5.8
3.7
85.30
84.65
ng/l
0.02
53
288
357
2937
1.48
5.63
4.0
3.4
0.00
0.53
estimate
0.50
115
571
82
477
1.82
5.59
3.5
3.7
7.37
7.34
ph
0.35
59
340
170
1200
1.57
5.59
1.8
1.7
1.23
1.17
mg/l
0.11
137
936
32
129
2.56
5.53
2.7
3.4
55.94
56.91
%
0.17
32
129
17
47
3.69
5.51
1.0
1.0
0
0
27
103
2.69
5.21
1.4
1.9
0.49
0.77
g/l
0.86
21
81
145
1005
1.57
5.12
1.3
1.3
12.34
12.77
u/ml
0.02
62
414
45
222
2.10
4.94
1.2
1.3
0
0
250
1962
1.45
4.80
4.2
3.5
55.23
89.91
e6/l
0.64
195
1403
62
348
1.86
4.74
1.4
2.5
0
0
43
213
2.09
4.68
1.5
1.5
18.93
0
7
47
243
2.01
4.57
1.9
2.1
10.70
8.20
iu/ml
8
60
601
5639
1.94
4.56
22.9
15.2
139.72
139.80
mmol/l
0.37
594
5532
602
5652
1.96
4.55
23.2
15.4
3.97
3.97
mmol/l
0.21
595
5531
196
1482
1.46
4.52
3.3
2.9
0.46
0.42
e6/l
0.06
154
1087
45
234
1.99
4.32
1.2
1.2
2.11
0
14
50
270
1.92
4.31
2.2
1.9
35.84
39.98
nmol/l
1.03
50
263
10
16
6.33
4.30
1.4
1.7
0
0
221
1726
1.43
4.24
3.5
3.0
18.60
86.29
e6/l
1.10
182
1338
63
369
1.78
4.22
1.2
1.2
201.67
148.92
u/ml
0.30
26
158
182
1376
1.45
4.15
3.0
2.7
0
0
33
157
2.16
4.01
1.3
1.4
318.21
270.64
ug/g
0.56
19
98
9
14
6.50
3.99
4.9
3.5
3.33
5.85
ug/l
9
14
217
1710
1.41
3.90
4.5
3.9
8.16
5.98
mg/mmol
0.47
134
1037
25
108
2.37
3.80
2.2
4.8
3435.63
456.71
u/ml
0.42
25
102
290
2411
1.37
3.73
2.0
1.9
1.46
1.35
mmol/l
1.21
227
2054
39
204
1.97
3.71
1.4
1.3
0
0
212
1676
1.39
3.71
3.7
3.3
43.55
35.90
mg/l
0.30
134
1059
15
50
3.05
3.71
2.1
2.6
1.28
0.81
g/24h
10
28
40
212
1.95
3.67
1.3
1.3
0
0
72
457
1.65
3.63
1.5
1.5
0
0
15
51
2.99
3.59
1.0
1.4
0
0
24
106
2.31
3.49
4.2
3.2
0
0
32
160
2.05
3.45
1.6
4.0
37.64
31.16
mg/l
0.56
27
140
32
160
2.05
3.45
1.6
4.0
43.29
72.27
mg/l
0.36
27
137
289
2422
1.35
3.45
3.4
2.9
0
0
394
3461
1.35
3.44
4.6
4.1
1124.00
607.89
e6/l
7
47
82
546
1.57
3.41
9.9
9.8
0.80
0.94
mmol/l
0.12
72
450
225
1820
1.36
3.36
3.8
3.2
8.10
8.38
mmol/l
0.36
186
1523
55
332
1.72
3.35
3.9
3.6
7.41
7.42
ph
0.22
48
283
21
89
2.41
3.35
4.1
2.4
8.84
6.54
pmol/l
0.85
21
89
216
1738
1.36
3.33
3.3
2.3
0
0
588
5556
1.65
3.32
5.6
4.8
4.54
4.69
mmol/l
3.62
563
5224
586
5537
1.63
3.25
5.5
4.7
1.39
1.45
mmol/l
3.57
559
5166
82
553
1.55
3.23
10.0
9.8
7.41
7.42
ph
0.28
51
322
92
637
1.52
3.22
1.7
1.6
0
0
616
5904
1.93
3.20
18.2
11.2
31.30
27.61
u/l
5.16
610
5752
8
15
5.39
3.20
1.1
1.2
0
0
11
29
3.84
3.19
2.1
3.6
56.27
117.86
nmol/l
0.61
11
29
53
323
1.70
3.13
3.2
3.0
165.67
162.02
ng/l
0.03
45
293
35
189
1.90
3.07
1.8
1.3
3.65
7.08
u/l
4.94
28
157
562
5274
1.50
3.07
4.7
4.0
1.34
1.28
mmol/l
1.37
530
4895
27
133
2.08
3.05
1.3
1.2
221.83
269.35
u/ml
0.30
12
80
140
1064
1.40
3.02
2.0
1.9
0
0
602
5743
1.71
3.00
23.2
12.1
0
0
102
734
1.46
2.96
1.3
1.3
0
0
19
82
2.36
2.94
1.1
1.1
7.98
4.28
u/ml
7
34
70
467
1.56
2.91
1.4
1.4
0
0
7
13
5.43
2.87
3.7
5.2
47.36
48.92
%
7
13
16
65
2.50
2.81
1.3
1.4
0
0
16
65
2.50
2.81
1.5
1.3
0
0
16
65
2.50
2.81
1.5
1.2
0
0
132
1007
1.39
2.78
2.5
2.9
2.44
2.44
mmol/l
0.27
115
911
43
258
1.71
2.72
6.9
4.6
24.60
24.38
mmol/l
0.14
43
258
271
2312
1.30
2.66
3.1
3.1
6.05
6.16
ph
1.08
164
1379
590
5627
1.56
2.62
6.3
5.3
2.68
2.79
mmol/l
2.28
566
5258
101
743
1.43
2.61
2.4
2.5
104.14
107.21
ug/g
0.03
71
602
93
674
1.44
2.61
1.4
1.3
0
0
31
171
1.85
2.59
1.4
1.2
2.17
0
15
45
278
1.67
2.57
2.1
2.1
0.00
2.82
estimate
0.51
17
90
6
11
5.49
2.55
4.0
2.5
0.55
0.62
mmol/l
6
11
24
122
2.00
2.53
1.5
1.7
4.16
4.30
iu/l
8
46
19
88
2.19
2.53
1.1
1.0
1.41
2.26
u/ml
9
39
19
89
2.17
2.47
4.2
3.8
2.04
2.61
mmol/l
0.43
14
59
10
32
3.16
2.44
1.6
2.9
732.80
1370.34
u/ml
10
32
172
1394
1.32
2.43
5.8
4.3
0
0
9
27
3.37
2.40
3.6
1.3
17.73
31.95
umol/l
9
22
292
2539
1.27
2.40
3.8
2.7
estimate
0
0
20
97
2.10
2.39
1.1
1.1
0.14
0.81
u/ml
7
39
23
118
1.98
2.38
1.1
1.1
0.60
2.73
u/ml
9
61
25
133
1.92
2.34
2.4
2.8
1.50
2.47
index
0.32
12
77
25
133
1.92
2.34
3.6
4.2
8.19
8.16
kpa
0.03
25
133
254
2176
1.28
2.34
2.0
2.1
0
0
67
468
1.48
2.28
7.2
3.8
7.38
7.39
ph
0.38
41
258
8
24
3.36
2.18
1.0
1.1
0
0
20
102
1.99
2.12
1.1
1.1
0
0
20
102
1.99
2.12
1.1
1.0
0.79
5.14
u/ml
8
50
45
294
1.57
2.09
4.6
6.5
0
0
20
103
1.97
2.07
1.1
1.0
0
0
6
15
4.03
2.04
1.0
2.7
41.52
41.42
g/l
6
15
8
26
3.10
2.02
1.0
1.0
0
0
8
26
3.10
2.02
1.0
1.2
162.65
137.86
iu/ml
8
26
26
148
1.79
2.01
1.7
3.6
1.46
2.26
ratio
0.90
13
89
16
78
2.08
1.92
1.3
1.3
30.66
26.01
u/l
0.18
16
69
13
58
2.27
1.92
1.1
1.3
256.18
317.35
mu/l
0.70
13
49
21
114
1.87
1.89
3.7
4.9
62.44
64.18
%
0.10
21
114
12
52
2.33
1.88
2.5
3.3
1.52
3.06
nmol/l
3.02
12
52
16
79
2.05
1.86
1.1
1.2
0
0
37
238
1.59
1.86
3.9
4.0
0
0
48
328
1.50
1.85
1.1
1.1
0
0
58
413
1.44
1.83
13.6
9.9
0
0
21
116
1.84
1.80
3.4
2.1
139.31
129.61
g/l
0.72
16
96
69
509
1.40
1.80
2.8
5.2
2.96
29.48
ug/l
1.02
56
416
13
60
2.19
1.78
1.5
1.4
0
0
60
433
1.43
1.77
1.2
1.2
0
0
7
24
2.94
1.72
1.3
1.2
0.00
0.00
estimate
7
24
6
19
3.18
1.66
1.2
1.1
0
0
6
19
3.18
1.66
1.0
1.0
0
0
62
456
1.40
1.65
8.2
3.7
2.28
1.93
mmol/l
0.26
55
393
7
25
2.82
1.65
1.0
1.2
0
0
114
922
1.29
1.62
4.0
3.4
834.87
515.94
ng/l
0.19
76
671
29
183
1.61
1.60
1.3
1.4
251.12
208.58
miu/ml
10
89
92
725
1.31
1.59
1.9
1.5
0
0
6
20
3.02
1.58
2.0
1.3
1.72
2.21
umol/l
6
15
7
26
2.71
1.58
1.1
4.7
15.44
15.99
%
7
26
30
192
1.59
1.57
1.8
2.8
0
0
33
219
1.53
1.49
2.3
1.9
2.02
3.31
ug/l
0.37
33
196
19
111
1.73
1.40
1.6
4.6
0
0
17
96
1.79
1.40
1.1
1.1
5.80
1.77
u/ml
7
42
27
174
1.58
1.39
3.9
2.0
230.58
7098.87
u/l
1.64
12
67
71
551
1.32
1.38
1.6
1.8
3.31
3.52
mmol/l
0.89
45
388
40
282
1.45
1.37
1.7
1.7
0
0
22
135
1.65
1.37
1.3
1.2
0
0
101
823
1.27
1.37
3.2
2.9
3.56
1.88
e6/l
0.67
48
407
64
490
1.34
1.36
5.5
2.5
32.42
128.63
u/l
0.50
48
425
18
105
1.73
1.34
2.6
3.6
0
0
10
47
2.15
1.34
2.2
1.2
129.20
112.57
pmol/l
10
47
6
24
2.51
1.30
1.8
1.7
0.67
1.95
u/field
6
19
85
683
1.28
1.29
8.0
7.7
103.65
104.71
mmol/l
1.10
85
683
8
34
2.37
1.29
1.1
1.3
0
0
5
18
2.79
1.28
7.6
4.8
0
0
11
55
2.02
1.28
1.1
1.1
0
0
8
35
2.30
1.27
1.6
2.4
938.25
1364.74
mg
8
35
97
797
1.26
1.24
2.2
2.1
0
0
10
50
2.02
1.17
1.3
1.1
0
0
5
20
2.51
1.15
1.0
1.7
49.58
0
12
10
51
1.98
1.11
1.3
1.2
0
0
9
165
0.54
1.09
7.1
9.8
0
0
11
59
1.88
1.08
5.0
2.4
1103.91
1127.10
e6/l
0.03
11
52
182
1617
1.17
1.05
7.8
5.8
0
0
9
46
1.97
1.04
1.3
1.0
0
0
5
22
2.28
1.03
3.8
1.7
36.60
32.36
%
5
22
18
114
1.60
1.03
1.6
1.6
0
0
9
47
1.93
1.02
5.3
2.7
329.00
226.32
e6/l
9
41
39
291
1.36
1.02
1.3
1.2
0
0
26
181
1.45
1.00
1.9
4.0
615.09
205.05
mg/l
0.51
11
83
27
190
1.44
0.98
1.4
2.1
21.95
20.65
s
0.77
21
171
63
507
1.27
0.98
2.2
2.0
0.00
0.03
estimate
0.50
18
111
49
383
1.30
0.95
1.2
1.2
0
0
11
62
1.79
0.94
1.1
1.3
0
0
620
6102
1.40
0.90
38.7
20.8
235.99
248.65
e9/l
5.46
608
6001
55
679
0.79
0.89
1.4
1.5
0
0
6
29
2.08
0.89
1.3
3.8
8.12
8.17
mmol/l
6
29
620
6103
1.39
0.89
38.6
20.7
93.46
90.93
fl
30.79
615
6045
620
6104
1.39
0.88
39.5
21.3
41.69
41.06
%
2.17
615
6041
620
6104
1.39
0.88
38.6
20.7
31.57
30.36
pg
42.39
615
6046
620
6104
1.39
0.88
38.7
20.8
4.52
4.57
e12/l
1.48
606
5981
238
2185
1.14
0.87
4.5
5.1
1.89
2.28
ug/l
0.73
216
1993
620
6105
1.39
0.87
38.8
20.8
6.33
6.60
e9/l
3.13
606
5981
8
45
1.79
0.84
5.4
2.5
416.25
438.62
e6/l
8
37
8
45
1.79
0.84
3.0
7.5
11.80
11.00
%
8
45
620
6107
1.38
0.84
38.9
20.9
141.41
137.95
g/l
5.70
615
6049
18
121
1.50
0.83
1.2
1.7
0
0
8
47
1.71
0.81
2.0
1.3
83.88
78.23
umol/l
8
47
8
47
1.71
0.81
3.3
2.3
32.24
37.40
%
8
47
18
122
1.49
0.81
1.1
1.3
2.22
34.55
e6/l
9
91
6
33
1.83
0.79
1.2
1.1
0
0
0
25
0.00
0.79
0.0
1.1
7.37
0
14
73
615
1.21
0.78
1.7
1.5
0
0
6
34
1.77
0.76
1.2
1.1
1554.83
1503.18
miu/ml
6
34
36
280
1.30
0.76
3.6
3.0
1.25
1.34
%
0.17
36
280
18
124
1.46
0.75
1.1
1.4
78.00
1073.56
e6/l
0.56
11
97
9
54
1.68
0.74
1.2
1.5
269.38
343.33
pmol/l
9
54
5
24
2.09
0.74
1.0
1.1
24.18
0
5
25
186
1.36
0.71
1.6
1.6
45.72
10.53
u/ml
6
52
7
41
1.71
0.70
1.1
1.0
0
0
148
1341
1.13
0.66
3.0
3.1
0.75
0.71
ug/l
0.20
84
830
12
78
1.55
0.66
1.3
1.1
0
0
11
70
1.58
0.65
2.4
2.5
0
0
5
29
1.73
0.64
2.2
1.4
65.80
100.32
ng/l
5
29
14
96
1.47
0.62
1.4
1.2
6.67
3.89
u/ml
6
44
25
192
1.31
0.60
4.2
4.1
24.64
24.74
mmol/l
0.10
25
185
8
54
1.49
0.57
1.8
2.1
0
0
180
1668
1.11
0.55
1.6
1.4
0
0
51
436
1.18
0.51
2.6
2.1
0.76
0.34
e6/l
0.41
51
418
6
41
1.47
0.50
1.5
1.4
0
0
34
280
1.23
0.50
3.5
3.0
0.57
0.63
%
0.69
34
280
29
235
1.25
0.49
2.7
2.2
0
0
7
47
1.49
0.47
1.1
1.2
0
0
7
48
1.46
0.47
1.4
2.1
0
0
8
118
0.67
0.46
1.6
1.6
0
0
19
148
1.29
0.44
1.1
1.2
0
0
11
78
1.42
0.43
1.3
1.2
0
0
20
158
1.27
0.42
1.5
1.6
0
0
5
33
1.52
0.41
9.2
3.3
34.90
15.05
mu/l
5
33
0
15
0.00
0.41
0.0
2.0
17.26
0
15
7
103
0.68
0.39
2.4
1.6
0
0
20
160
1.26
0.39
1.1
1.1
0
0
9
67
1.35
0.38
1.1
1.1
0
0
13
98
1.33
0.37
1.1
1.2
0
0
8
114
0.70
0.37
1.5
1.5
0
0
9
70
1.29
0.36
1.8
1.5
0
0
51
452
1.14
0.35
2.3
2.2
5.81
6.10
ph
1.31
24
294
36
415
0.86
0.35
3.7
3.0
0
0
11
82
1.35
0.34
2.9
2.5
0
0
7
52
1.35
0.31
1.3
1.3
6.74
6.51
mmol/l
7
46
28
240
1.17
0.30
1.4
1.5
0
0
123
1308
0.93
0.30
3.6
3.4
1.02
1.02
kg/l
0.09
84
853
21
250
0.83
0.30
1.1
1.1
1.46
1.53
g/l
0.62
21
250
7
54
1.30
0.30
1.0
1.0
0
0
15
120
1.26
0.30
1.1
1.4
0
0
28
241
1.17
0.29
1.4
1.5
0
0
28
242
1.16
0.28
1.4
1.5
0
0
10
77
1.30
0.26
4.3
2.3
0
0
27
238
1.14
0.22
1.4
1.5
0
0
19
220
0.86
0.21
1.8
1.7
0
0
5
42
1.19
0.21
3.6
2.2
0
0
0
10
0.00
0.21
0.0
1.1
44.68
0
10
0
10
0.00
0.21
0.0
1.1
0.21
0
5
0
10
0.00
0.21
0.0
1.2
0.43
0
10
0
10
0.00
0.21
0.0
1.5
68.90
0
10
0
10
0.00
0.21
0.0
1.0
22.40
0
5
0
12
0.00
0.21
0.0
7.7
10.17
0
12
0
12
0.00
0.21
0.0
3.8
37.08
0
12
6
48
1.25
0.20
1.3
1.2
1.05
1.44
nmol/l
6
42
6
48
1.25
0.20
2.0
2.1
1.19
1.19
mmol/l
6
48
0
14
0.00
0.20
0.0
2.8
30.55
0
8
6
49
1.23
0.20
2.0
2.1
4.18
3.98
mmol/l
6
49
6
49
1.23
0.20
2.0
2.1
105.50
105.41
mmol/l
6
49
6
52
1.16
0.19
1.3
1.5
0
0
10
82
1.22
0.17
2.4
1.5
0
0
10
82
1.22
0.17
2.4
1.5
0
0
10
82
1.22
0.17
2.4
1.5
0
0
10
82
1.22
0.17
2.4
1.5
0
0
51
545
0.93
0.16
2.0
1.8
0
0
11
130
0.84
0.16
1.7
1.1
0
0
11
130
0.84
0.16
1.7
1.1
0
0
8
73
1.10
0.15
1.9
2.3
0
0
23
255
0.90
0.15
1.4
1.2
0.90
0.91
g/l
0.02
23
255
9
80
1.13
0.15
1.3
1.1
0
0
24
218
1.10
0.13
1.4
1.5
0
0
24
223
1.08
0.09
1.2
1.1
0
0
122
1249
0.97
0.08
3.7
3.5
0.00
0
10
17
163
1.04
0.01
18.1
1.7
0
0
13
124
1.05
0.00
1.5
1.9
0
0
13
127
1.02
0.00
1.3
1.3
0
0
13
131
0.99
0.00
1.6
1.2
0
0
0
5
0.00
0.00
0.0
1.0
0.03
0
5
0
5
0.00
0.00
0.0
1.2
0
0
6
62
0.97
-0.00
1.3
2.0
13.17
10.40
mmol/l
6
62
0
7
0.00
-0.00
0.0
1.0
17.09
0
7
5
51
0.98
-0.00
2.8
1.1
0
0
6
60
1.00
-0.00
1.0
1.5
0
0
0
6
0.00
-0.00
0.0
1.0
0
0
7
71
0.99
-0.00
1.3
1.8
0
0
5
50
1.00
-0.00
1.6
1.8
0
0
0
6
0.00
-0.00
0.0
1.3
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_IRON_MET and mortality.

Females

Parameter HR [95% CI] p-value
E4_IRON_MET 1.819 [1.37, 2.42] < 0.001
Birth year 0.997 [0.99, 1.01] 0.43

During the follow-up period (1.1.1998 — 31.12.2019), 117 out of 700 females with E4_IRON_MET died.

Males

Parameter HR [95% CI] p-value
E4_IRON_MET 2.068 [1.7, 2.51] < 0.001
Birth year 0.988 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 233 out of 1047 males with E4_IRON_MET died.

Mortality risk

Mortality risk for people of age

years, who have E4_IRON_MET.

N-year risk Females Males
1 0.185% 0.41%
5 1.129% 2.443%
10 2.835% 6.134%
15 5.252% 11.96%
20 8.954% 19.321%

Relationships between endpoints

Index endpoint: E4_IRON_MET – Disorders of iron metabolism

GWS hits: 6

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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