Risteys · G6_ENCEPATH

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 — G93.4 Hospital discharge: ICD-9 — 3483 Cause of death: ICD-10 — G93.4 Cause of death: ICD-9 — 3483 2 out of 7 registries used, show all original rules.	339
4. Check minimum number of events None	339
5. Include endpoints None	339
6. Filter based on genotype QC (FinnGen only)	339

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	4284	1649	2575
Only index persons	2826	1169	1657
Unadjusted period prevalence (%)
Whole population	0.06	0.05	0.07
Only index persons	0.05	0.04	0.06
Median age at first event (years)
Whole population	60.73	60.46	60.73
Only index persons	58.69	58.57	58.78

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	339	126	213
Unadjusted period prevalence (%)	0.07	0.04	0.09
Median age at first event (years)	59.71	56.29	61.74

-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
308: Matched controls
3078

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G93.4

ICD-10 Finland

Encephalopathy, unspecified

+∞

323.0

280

3483X

ICD-9 Finland

Other conditions of brain, Encephalopathy, unspecified

+∞

30.7

A07AA11

ATC

rifaximin; oral

320.6

29.3

AA1AD

NOMESCO Finland

CT of head and brain

4.5

28.0

122

390

A06AD11

ATC

lactulose; oral

5.1

27.8

102

272

K70.3

ICD-10 Finland

Alcoholic cirrhosis of liver

20.7

26.9

K74.6

ICD-10 Finland

Other and unspecified cirrhosis of liver

21.1

26.4

F10.1

ICD-10 Finland

Mental and behavioural disorders due to use of alcohol, Harmful use

7.9

22.7

R41.0

ICD-10 Finland

Disorientation, unspecified

13.0

22.5

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

3.5

21.5

136

571

R18

ICD-10 Finland

Ascites

17.4

21.1

K70.4

ICD-10 Finland

Alcoholic hepatic failure

118.0

20.8

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

4.1

19.2

262

K72.9

ICD-10 Finland

Hepatic failure, unspecified

106.6

18.8

I85.9

ICD-10 Finland

Oesophageal varices without bleeding

23.5

18.5

R56.8

ICD-10 Finland

Other and unspecified convulsions

8.5

18.1

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

5.7

18.0

110

C03DA01

ATC

spironolactone; oral

4.4

17.6

188

G45.9

ICD-10 Finland

Transient cerebral ischaemic attack, unspecified

27.4

17.2

C03CA01

ATC

furosemide; systemic

2.9

15.6

129

617

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

6.5

15.5

R53

ICD-10 Finland

Malaise and fatigue

3.3

15.1

338

A28

ICPC

Limited function/disability NOS

3.6

15.0

258

N03AX14

ATC

levetiracetam; systemic

11.3

14.5

N05AH04

ATC

quetiapine; oral

3.5

14.5

252

C07AA05

ATC

propranolol; systemic

3.5

14.3

266

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.6

13.7

226

K72.1

ICD-10 Finland

Chronic hepatic failure

42.0

13.3

JA3AT

NOMESCO Finland

Cathetrisation of abdominal cavity with ultrasound guidance

10.8

13.2

A49.9

ICD-10 Finland

Bacterial infection, unspecified

3.7

13.2

202

N03AG01

ATC

valproic acid; systemic, rectal

5.6

13.2

G31.2

ICD-10 Finland

Degeneration of nervous system due to alcohol

33.6

12.7

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

4.9

12.5

182

Kela drug reimbursment

Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide

10.7

12.2

J18.9

ICD-10 Finland

Pneumonia, unspecified

2.7

12.1

103

486

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

5.1

12.0

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

11.2

12.0

XA800

NOMESCO Finland

Neuropsychological investigation

6.6

11.4

TAB00

NOMESCO Finland

Lumbar puncture

7.1

11.2

A10AB05

ATC

insulin aspart; parenteral (insulins and analog. for injection, fast-acting)

5.0

11.1

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

4.3

10.8

107

N05AD01

ATC

haloperidol; systemic

7.3

10.6

F05.9

ICD-10 Finland

Delirium, unspecified

9.3

10.5

R41.8

ICD-10 Finland

Other and unspecified symptoms and signs involving cognitive functions and awareness

3.8

10.5

132

R50.9

ICD-10 Finland

Fever, unspecified

3.1

10.3

216

F10.29

ICD-10 Finland

Addiction caused by alcohol UNS

9.6

10.2

F10.40

ICD-10 Finland

Withdrawal symptoms and delirium caused by alcohol without seizures

17.4

10.0

I69.3

ICD-10 Finland

Sequelae of cerebral infarction

4.2

10.0

100

112

Kela drug reimbursment

Severe psychotic and other severe mental disorders

4.4

9.9

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

4.6

9.9

N05AX08

ATC

risperidone; systemic

3.7

9.5

126

F10.09

ICD-10 Finland

Alcohol intoxication UNS

12.9

9.5

N05BA01

ATC

diazepam; systemic, rectal

3.1

9.5

197

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

4.2

9.4

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

3.3

9.4

162

P15

ICPC

Chronic alcohol abuse

8.1

9.3

G40.9

ICD-10 Finland

Epilepsy, unspecified

6.6

9.3

JA2AT

NOMESCO Finland

Abdominal puncture with ultrasound guidance

14.3

9.3

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

3.9

9.2

108

N03AF02

ATC

oxcarbazepine; oral

6.9

9.1

JCA22

NOMESCO Finland

Endoscopic ligature of oesophageal varices

37.9

9.1

N17.9

ICD-10 Finland

Acute renal failure, unspecified

4.9

9.1

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

2.7

9.1

286

N05AH03

ATC

olanzapine; systemic

4.8

8.9

103

Kela drug reimbursment

Diabetes, insulin-treated

2.3

8.8

102

553

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

3.5

8.8

129

SPAT1255

SPAT

Intravenous administration of medicine

4.2

8.8

J01MA02

ATC

ciprofloxacin; systemic

2.1

8.7

135

830

TK800

NOMESCO Finland

Hemodialysis

7.3

8.7

K92.1

ICD-10 Finland

Melaena

4.0

8.6

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

4.1

8.6

G41.9

ICD-10 Finland

Status epilepticus, unspecified

28.4

8.5

F10.30

ICD-10 Finland

Withdrawal symptoms caused by alcohol uncomplicated

28.4

8.5

215

Kela drug reimbursment

Diabetes, non-insulin-treated

2.3

8.5

458

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.6

8.5

305

UJD02

NOMESCO Finland

Gastroscopy

4.7

8.5

B03BA03

ATC

hydroxocobalamin; parenteral

4.4

8.4

A10AE04

ATC

insulin glargine; parenteral

3.3

8.4

139

R1250

NOMESCO Finland

Evaluation of functional capability

9.9

8.4

E11.9

ICD-10 Finland

Type 2 diabetes mellitus, without complications

2.3

8.3

476

N06AX11

ATC

mirtazapine; oral

2.2

8.2

105

592

JN3AA

NOMESCO Finland

Abdominal X-ray examination without contrast

5.3

8.2

SPAT1229

SPAT

Assessment of need for aid

3.5

8.1

115

R55

ICD-10 Finland

Syncope and collapse

3.0

8.0

168

N05CF01

ATC

zopiclone; oral

2.1

8.0

110

639

N03AF01

ATC

carbamazepine; oral, rectal

4.3

8.0

N03AX12

ATC

gabapentin; oral

2.7

7.9

233

D64.9

ICD-10 Finland

Anaemia, unspecified

3.0

7.9

170

SPAT1217

SPAT

Assessment of need for services (elderly/care support)

3.5

7.8

112

SPAT1262

SPAT

Handing over of treatment supplies

2.5

7.7

310

F10.20

ICD-10 Finland

Alcohol dependence currently independent

8.4

7.7

J15.9

ICD-10 Finland

Bacterial pneumonia, unspecified

3.1

7.6

147

K76.7

ICD-10 Finland

Hepatorenal syndrome

25.7

7.6

L28

ICPC

Limited function/disability (L)

2.5

7.6

292

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.0

7.6

142

928

A41.5

ICD-10 Finland

Sepsis due to other Gram-negative organisms

5.3

7.6

KH1AE

NOMESCO Finland

Urinary tract ultrasound examination

3.8

7.4

F32.9

ICD-10 Finland

Depressive episode, unspecified

3.1

7.4

146

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.5

7.3

279

G41.2

ICD-10 Finland

Complex partial status epilepticus

+∞

7.3

G45.0

ICD-10 Finland

Vertebro-basilar artery syndrome

+∞

7.3

G93.8

ICD-10 Finland

Other specified disorders of brain

+∞

7.3

G91.2

ICD-10 Finland

Normal-pressure hydrocephalus

+∞

7.3

N06AB04

ATC

citalopram; systemic

2.3

7.3

374

N03AE01

ATC

clonazepam; systemic

4.3

7.3

A09

ICD-10 Finland

Other gastroenteritis and colitis of infectious and unspecified origin

2.6

7.3

250

N02AA05

ATC

oxycodone; systemic

2.5

7.2

260

K92.0

ICD-10 Finland

Haematemesis

6.9

7.2

W19

ICD-10 Finland

Unspecified fall

3.1

7.2

142

N05BA09

ATC

clobazam; oral

20.6

7.2

K90

ICPC

Stroke/cerebrovascular accident

7.3

7.1

N05BE01

ATC

buspirone; oral

6.6

7.0

A41.9

ICD-10 Finland

Sepsis, unspecified

4.6

7.0

SPAT1222

SPAT

Counselling/guidance promoting independent living

2.4

7.0

272

N03AX16

ATC

pregabalin; oral

2.2

6.9

391

N05BA04

ATC

oxazepam; oral

2.2

6.8

444

K70.9

ICD-10 Finland

Alcoholic liver disease, unspecified

23.1

6.7

R11

ICD-10 Finland

Nausea and vomiting

3.3

6.5

100

SPAT1254

SPAT

Administration of medicine

2.5

6.5

240

K72.0

ICD-10 Finland

Acute and subacute hepatic failure

71.2

6.4

N05AN01

ATC

lithium; oral

8.4

6.4

WX730

NOMESCO Finland

Conventional respirator

8.4

6.4

JN3CD

NOMESCO Finland

Abdominal CT examination both without and with contrast

4.5

6.4

N05CD07

ATC

temazepam; oral

2.5

6.4

234

F10.9

ICD-10 Finland

Mental and behavioural disorders due to use of alcohol, Unspecified mental and behavioural disorder

11.3

6.3

T90.5

ICD-10 Finland

Sequelae of intracranial injury

11.3

6.3

D97

ICPC

Liver disease NOS

18.5

6.3

G93.99

ICD-10 Finland

Disorder of brain, unspecified

+∞

6.3

N10

ICD-10 Finland

Acute tubulo-interstitial nephritis

2.5

6.3

216

N06AG02

ATC

moclobemide; oral

4.4

6.3

N03AX09

ATC

lamotrigine; oral

4.9

6.2

Z02.7

ICD-10 Finland

Issue of medical certificate

3.7

6.2

N06AX16

ATC

venlafaxine; oral

2.7

6.1

170

K86.00

ICD-10 Finland

Acute pancreatitis caused by alcohol

12.9

6.1

Z50.9

ICD-10 Finland

Care involving use of rehabilitation procedure, unspecified

5.0

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint G6_ENCEPATH and mortality.

Females

Parameter	HR [95% CI]	p-value
G6_ENCEPATH	5.197 [4.2, 6.43]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.725

During the follow-up period (1.1.1998 — 31.12.2019), 510 out of 1064 females with G6_ENCEPATH died.

Males

Parameter	HR [95% CI]	p-value
G6_ENCEPATH	4.951 [4.13, 5.93]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 805 out of 1493 males with G6_ENCEPATH died.

Mortality risk

Mortality risk for people of age

years, who have G6_ENCEPATH.

N-year risk	Females	Males
1	0.537%	0.72%
5	3.665%	5.005%
10	8.454%	11.984%
15	15.556%	22.374%
20	26.651%	35.56%

Relationships between endpoints

↥

Index endpoint: G6_ENCEPATH – Encephalopathy

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

Loading data

NAME	G6_ENCEPATH
CONTROL_EXCLUDE	G6_OTHNEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G934
HD_ICD_9	3483
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G934
COD_ICD_9	3483
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Encephalopathy

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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 (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints