Thiamine deficiency

E4_THIA_DEF

Endpoint definition

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 E51
  • Hospital discharge: ICD-9 265[0-1]
  • Hospital discharge: ICD-8 261
  • Cause of death: ICD-10 E51
  • Cause of death: ICD-9 265[0-1]
  • Cause of death: ICD-8 261

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

192

4. Check minimum number of events

None

192

5. Include endpoints

None

192

6. Filter based on genotype QC (FinnGen only)

192

Control definitions (FinnGen only)

Control exclude
E4_NUTRIDEF

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E50-E64
Name in latin
Deficientia thiamini

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 2748 938 1792
Only index persons 2295 816 1479
Unadjusted period prevalence (%)
Whole population 0.04 0.03 0.05
Only index persons 0.05 0.03 0.06
Median age at first event (years)
Whole population 59.15 58.66 59.36
Only index persons 59.28 58.60 59.66

-FinnGen-

Key figures

All Female Male
Number of individuals 192 66 126
Unadjusted period prevalence (%) 0.04 0.02 0.06
Median age at first event (years) 59.64 56.56 61.26

-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)

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
175
Matched controls
1751
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E51.2
ICD-10 Finland
Wernicke encephalopathy
+∞
169.5
134
*
F10.1
ICD-10 Finland
Mental and behavioural disorders due to use of alcohol, Harmful use
26.3
60.4
89
66
F10.29
ICD-10 Finland
Addiction caused by alcohol UNS
26.2
31.6
44
22
F10.25
ICD-10 Finland
Alcohol dependence continuous use
44.8
29.7
36
10
P15
ICPC
Chronic alcohol abuse
23.5
27.2
39
21
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
63.3
23.8
27
5
F10.40
ICD-10 Finland
Withdrawal symptoms and delirium caused by alcohol without seizures
35.8
23.7
30
10
N05AH04
ATC
quetiapine; oral
6.6
21.4
63
138
E51.9
ICD-10 Finland
Thiamine deficiency, unspecified
+∞
20.2
19
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
6.0
19.4
61
143
R41.0
ICD-10 Finland
Disorientation, unspecified
27.5
19.3
26
11
N07BB01
ATC
disulfiram; oral
11.9
19.3
36
37
AA1AD
NOMESCO Finland
CT of head and brain
4.5
17.6
78
263
F10.09
ICD-10 Finland
Alcohol intoxication UNS
25.0
17.4
24
11
F10.30
ICD-10 Finland
Withdrawal symptoms caused by alcohol uncomplicated
56.0
17.4
20
*
F10.00
ICD-10 Finland
Alcohol-related acute intoxication uncomplicated
31.1
17.0
22
8
K70.1
ICD-10 Finland
Alcoholic hepatitis
99.7
16.9
18
*
F10.39
ICD-10 Finland
Withdrawal symptoms caused by alcohol UNS
32.0
15.6
20
7
F10.20
ICD-10 Finland
Alcohol dependence currently independent
28.0
15.1
20
8
F10.49
ICD-10 Finland
Withdrawal symptoms and delirium caused by alcohol without information about seizures
30.2
14.6
19
7
A28
ICPC
Limited function/disability NOS
5.1
14.2
49
124
F10.24
ICD-10 Finland
Alcohol depence active use
23.5
13.7
19
9
F10.31
ICD-10 Finland
Withdrawal symptoms caused by alcohol with seizures
31.1
13.2
17
6
N05BA01
ATC
diazepam; systemic, rectal
5.0
13.2
46
117
F32.9
ICD-10 Finland
Depressive episode, unspecified
5.9
13.1
38
78
F10.03
ICD-10 Finland
Alcohol-related acute intoxication with delirium
139.5
12.6
13
*
F10.73
ICD-10 Finland
Residual or late-onset psychosis caused by alcohol dementia
139.5
12.6
13
*
A49.9
ICD-10 Finland
Bacterial infection, unspecified
5.8
12.6
37
77
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
9.9
12.5
25
29
R56.8
ICD-10 Finland
Other and unspecified convulsions
7.7
12.4
29
44
A06AD11
ATC
lactulose; oral
4.6
12.2
46
126
K70.3
ICD-10 Finland
Alcoholic cirrhosis of liver
18.1
11.9
18
11
E51.8
ICD-10 Finland
Other manifestations of thiamine deficiency
+∞
11.6
11
*
F10.9
ICD-10 Finland
Mental and behavioural disorders due to use of alcohol, Unspecified mental and behavioural disorder
27.1
11.3
15
6
N06AX11
ATC
mirtazapine; oral
3.2
11.1
76
338
C03CA01
ATC
furosemide; systemic
3.4
11.1
65
257
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
10.8
49
158
XF400
NOMESCO Finland
ECG with 12 standard connections
4.0
10.8
48
152
N06AB04
ATC
citalopram; systemic
3.5
10.3
55
203
Z72.1
ICD-10 Finland
Alcohol use
18.1
10.1
15
9
F10.26
ICD-10 Finland
Alcohol dependence periodic alcoholism
21.6
10.0
14
7
F10.21
ICD-10 Finland
Alcohol dependence currently abstinent, but staying in restrictive environment
21.6
10.0
14
7
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
3.0
9.9
73
337
N05BA02
ATC
chlordiazepoxide; systemic
12.4
9.8
17
15
T36
ICD-10 Finland
Poisoning by systemic antibiotics
11.0
9.8
18
18
F05.9
ICD-10 Finland
Delirium, unspecified
11.0
9.8
18
18
EBA15
NOMESCO Finland
Extraction of large number of teeth
11.6
9.5
17
16
SPAT1254
SPAT
Administration of medicine
3.8
9.5
43
138
X69
ICD-10 Finland
Intentional self-poisoning by and exposure to other and unspecified chemicals and noxious substances
10.9
9.3
17
17
N05AX08
ATC
risperidone; systemic
5.4
9.2
28
60
G72.8
ICD-10 Finland
Other specified myopathies
25.6
9.0
12
5
N03AG01
ATC
valproic acid; systemic, rectal
5.8
8.9
25
49
K70.9
ICD-10 Finland
Alcoholic liver disease, unspecified
52.7
8.8
10
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.1
8.7
55
226
N07
ICPC
Convulsion/seizure
94.4
8.5
9
*
F10.6
ICD-10 Finland
Mental and behavioural disorders due to use of alcohol, Amnesic syndrome
94.4
8.5
9
*
E86
ICD-10 Finland
Volume depletion
15.5
8.3
13
9
R53
ICD-10 Finland
Malaise and fatigue
3.2
8.2
48
185
G62.1
ICD-10 Finland
Alcoholic polyneuropathy
35.1
8.2
10
*
K70.4
ICD-10 Finland
Alcoholic hepatic failure
35.1
8.2
10
*
P16
ICPC
Acute alcohol abuse
13.9
8.0
13
10
N05AA02
ATC
levomepromazine; systemic
7.3
7.8
18
27
K70.0
ICD-10 Finland
Alcoholic fatty liver
19.4
7.7
11
6
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
5.4
7.6
22
45
E87.6
ICD-10 Finland
Hypokalaemia
8.5
7.3
15
19
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.4
7.2
86
498
N05BA04
ATC
oxazepam; oral
2.8
7.2
54
241
E16.2
ICD-10 Finland
Hypoglycaemia, unspecified
21.1
7.2
10
5
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
5.6
7.2
20
39
K92.0
ICD-10 Finland
Haematemesis
9.4
7.2
14
16
N05AD01
ATC
haloperidol; systemic
8.1
7.1
15
20
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
3.9
6.9
28
81
WX872
NOMESCO Finland
Intensive care
5.6
6.9
19
37
L28
ICPC
Limited function/disability (L)
3.3
6.9
37
133
W19
ICD-10 Finland
Unspecified fall
4.2
6.8
25
66
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
6.8
63
319
TPH04
NOMESCO Finland
Cathetrisation of vein
2.8
6.8
48
209
F10.2
ICD-10 Finland
Mental and behavioural disorders due to use of alcohol, Dependence syndrome
23.6
6.7
9
*
N05AH03
ATC
olanzapine; systemic
4.9
6.7
21
47
SPAT1309
SPAT
Guidance related to psychoactive substances / risk behaviour
9.3
6.7
13
15
N05BE01
ATC
buspirone; oral
12.9
6.7
11
9
J69.0
ICD-10 Finland
Pneumonitis due to food and vomit
10.6
6.6
12
12
N05CD07
ATC
temazepam; oral
3.3
6.6
33
114
N05CF01
ATC
zopiclone; oral
2.4
6.4
66
352
G40.9
ICD-10 Finland
Epilepsy, unspecified
6.7
6.3
15
24
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.2
6.3
23
61
Z2446
NOMESCO Finland
Social worker
4.8
6.1
19
43

Mortality – FinRegistry

Association

Association between endpoint E4_THIA_DEF and mortality.

Females

Parameter HR [95% CI] p-value
E4_THIA_DEF 4.252 [3.12, 5.8] < 0.001
Birth year 0.994 [0.99, 1.0] 0.177

During the follow-up period (1.1.1998 — 31.12.2019), 230 out of 671 females with E4_THIA_DEF died.

Males

Parameter HR [95% CI] p-value
E4_THIA_DEF 4.98 [4.14, 5.99] < 0.001
Birth year 0.982 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 604 out of 1344 males with E4_THIA_DEF died.

Mortality risk

Mortality risk for people of age

years, who have E4_THIA_DEF.

N-year risk Females Males
1 0.316% 0.751%
5 2.24% 4.701%
10 5.913% 11.842%
15 11.245% 21.364%
20 18.957% 33.304%

Relationships between endpoints

Index endpoint: E4_THIA_DEF – Thiamine deficiency

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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