Risteys · G6

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 — G96 Hospital discharge: ICD-9 — 3498A\|3492\|3499 Cause of death: ICD-10 — G96 Cause of death: ICD-9 — 3498A\|3492\|3499 2 out of 7 registries used, show all original rules.	428
4. Check minimum number of events None	428
5. Include endpoints None	428
6. Filter based on genotype QC (FinnGen only)	428

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	3599	1799	1755
Only index persons	2683	1459	1224
Unadjusted period prevalence (%)
Whole population	0.05	0.05	0.05
Only index persons	0.05	0.05	0.05
Median age at first event (years)
Whole population	51.05	50.08	51.69
Only index persons	46.73	46.94	46.48

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	428	259	169
Unadjusted period prevalence (%)	0.08	0.09	0.07
Median age at first event (years)	48.08	45.14	52.58

-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
381: Matched controls
3807

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G96.0

ICD-10 Finland

Cerebrospinal fluid leak

+∞

200.2

174

G96.9

ICD-10 Finland

Disorder of central nervous system, unspecified

+∞

96.0

3499X

ICD-9 Finland

Other and unspecified disorders of the nervous system, Unspecified disorders of nervous system

+∞

75.6

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

9.4

43.4

131

AA1AD

NOMESCO Finland

CT of head and brain

5.3

39.7

148

410

G96.8

ICD-10 Finland

Other specified disorders of central nervous system

+∞

36.0

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

8.6

33.5

109

TAB22

NOMESCO Finland

Stoppin epidural fluid escape with coagulated blood

60.0

32.9

TAB00

NOMESCO Finland

Lumbar puncture

9.1

27.2

AAK40

NOMESCO Finland

Closure of cerebrospinal fluid fistula

290.3

27.1

R51.80

ICD-10 Finland

Headache

4.4

24.9

101

286

G96.1

ICD-10 Finland

Disorders of meninges, not elsewhere classified

+∞

21.0

TAA40

NOMESCO Finland

Cathetrisation of cerebrospinal fluid through skin

110.8

19.8

M03BX01

ATC

baclofen; systemic

14.3

19.6

AA1CM

NOMESCO Finland

Extensive MRI examination of brain with 3 Tesla magnet

15.1

19.4

N03AX12

ATC

gabapentin; oral

3.9

18.9

270

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

9.6

18.1

NA7CG

NOMESCO Finland

Spine and spinal cord extensive MRI examination with high intensity magnet

22.2

17.5

R29.8

ICD-10 Finland

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

4.8

16.4

135

N03AX16

ATC

pregabalin; oral

2.9

15.7

115

497

UDH02

NOMESCO Finland

Rhinopharyngoscopy

5.1

15.3

110

ZXD05

NOMESCO Finland

Urgent procedure

2.6

15.3

151

776

ZXC95

NOMESCO Finland

Use of surgical navigator

17.4

14.9

NA3BG

NOMESCO Finland

Lumbar spine MRI examination with high intensity magnet

4.1

14.7

171

AAE05

NOMESCO Finland

Nasoendoscopic closure of cerebrospinal fluid fistula

+∞

14.7

R1250

NOMESCO Finland

Evaluation of functional capability

9.7

14.5

G45.9

ICD-10 Finland

Transient cerebral ischaemic attack, unspecified

28.4

14.4

XA800

NOMESCO Finland

Neuropsychological investigation

6.0

14.4

NA1BG

NOMESCO Finland

Cervical spine MRI examination with high intensity magnet

5.6

14.1

NA7DG

NOMESCO Finland

Spine and spinal cord very extensive MRI examination with high intensity magnet

24.9

13.9

WX404

NOMESCO Finland

Intravenous generell anesthesy

2.7

13.6

107

476

X59

ICD-10 Finland

Exposure to unspecified factor

3.0

13.6

359

AAK10

NOMESCO Finland

Repair of dura

+∞

13.6

N02AE01

ATC

buprenorphine; parenteral, sublingual, transdermal

3.5

13.1

212

G00.9

ICD-10 Finland

Bacterial meningitis, unspecified

+∞

12.6

N03AF02

ATC

oxcarbazepine; oral

7.1

12.5

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

3.7

12.4

169

XCK00

NOMESCO Finland

Perimetry

4.7

12.3

G82.2

ICD-10 Finland

Paraplegia, unspecified

38.9

12.3

DM1AD

NOMESCO Finland

CT of paranasal sinuses and face area

6.4

12.2

NA2BG

NOMESCO Finland

Thoracal spine MRI examination with high intensity magnet

9.8

12.2

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

5.3

12.1

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

3.2

12.0

244

S18

ICPC

Laceration/cut

2.2

11.8

170

1019

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.2

11.7

166

988

G95.8

ICD-10 Finland

Other specified diseases of spinal cord

+∞

11.5

N03AX14

ATC

levetiracetam; systemic

7.5

11.2

AAE10

NOMESCO Finland

Transsphenoidal total or partial excision of intracranial lesion

25.9

11.2

N03AE01

ATC

clonazepam; systemic

4.6

11.0

WX408

NOMESCO Finland

General anesthesy, balanced

2.3

10.9

126

677

AWB00

NOMESCO Finland

Reoperation for superficial infection in surgery of the nervous system

61.7

10.7

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

4.0

10.5

114

T91.3

ICD-10 Finland

Sequelae of injury of spinal cord

112.9

10.5

ZZC00

NOMESCO Finland

Graft of fascia

+∞

10.5

N02AX02

ATC

tramadol; systemic, rectal

2.1

10.4

166

1024

R20.2

ICD-10 Finland

Paraesthesia of skin

4.3

10.3

H02AB09

ATC

hydrocortisone; systemic

6.8

10.2

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

2.6

10.1

339

D35.2

ICD-10 Finland

Benign neoplasm: Pituitary gland

15.1

10.1

UDM02

NOMESCO Finland

Sinoscopy

7.7

9.8

303

Kela drug reimbursment

Dimethyl fumarate, interferon beta, glatiramer acetate and teriflunomid (Multiple sclerosis)

13.8

9.7

AAB00

NOMESCO Finland

Extirpation of intracranial lesion

13.8

9.7

TPH04

NOMESCO Finland

Cathetrisation of vein

2.5

9.7

410

ZXE10

NOMESCO Finland

More than one and less than three hours

2.1

9.7

151

917

L89

ICD-10 Finland

Decubitus ulcer and pressure area

11.8

9.6

Z3226

NOMESCO Finland

Physiotherapist

2.4

9.5

406

XKC03

NOMESCO Finland

Water cystometry

6.0

9.4

XKD06

NOMESCO Finland

Physiologic investigation of micturition

7.0

9.3

AA1BD

NOMESCO Finland

Extensive CT of head and brain

7.0

9.3

Z2446

NOMESCO Finland

Social worker

3.6

9.3

122

AAB10

NOMESCO Finland

Partial excision of intracranial lesion

16.1

9.1

N06CA01

ATC

amitriptyline and psycholeptics; systemic

3.1

9.0

182

AA1DM

NOMESCO Finland

Very extensive MRI examination of brain with 3 Tesla magnet

19.1

9.0

WX882

NOMESCO Finland

High dependency care

5.6

8.9

NH3AA

NOMESCO Finland

Foot and toes X-ray examination

3.3

8.9

143

R4110

NOMESCO Finland

Physiotherapy

2.2

8.9

108

587

109

Kela drug reimbursment

Multiple sclerosis

11.1

8.9

G35

ICD-10 Finland

Multiple sclerosis

7.9

8.7

G03.9

ICD-10 Finland

Meningitis, unspecified

51.1

8.7

A28

ICPC

Limited function/disability NOS

2.7

8.5

247

157

Kela drug reimbursment

Dimethyl fumarate, glatiramer acetate, interferon beta and teriflunomid (Multiple sclerosis)

13.1

8.4

AAF05

NOMESCO Finland

Ventriculoperitoneal shunt

+∞

8.4

G97.0

ICD-10 Finland

Cerebrospinal fluid leak from spinal puncture

+∞

8.4

A03FA01

ATC

metoclopramide; systemic, rectal

2.3

8.3

437

ZZF00

NOMESCO Finland

Graft of adipose tissue

14.9

8.3

Z3231

NOMESCO Finland

Registered nurse

2.1

8.2

115

657

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.6

8.2

269

DMB20

NOMESCO Finland

Functional endoscopic opening of maxillary antrum

3.8

8.2

NA7BG

NOMESCO Finland

Spine and spinal cord MRI examination with high intensity magnet

22.6

8.1

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

3.7

8.0

G40.29

ICD-10 Finland

Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures

8.0

JN3AA

NOMESCO Finland

Abdominal X-ray examination without contrast

4.6

7.9

R4130

NOMESCO Finland

Speech therapy

9.7

7.8

TDM10

NOMESCO Finland

Puncture of maxillary antrum

4.6

7.8

R11

ICD-10 Finland

Nausea and vomiting

3.4

7.8

112

H47.2

ICD-10 Finland

Optic atrophy

45.9

7.7

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

2.6

7.7

247

AA1AA

NOMESCO Finland

Head X-ray examination

25.6

7.6

S02.10

ICD-10 Finland

Fracture of base of skull, closed

25.6

7.6

R50.9

ICD-10 Finland

Fever, unspecified

2.4

7.5

311

182

Kela drug reimbursment

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

6.0

7.3

AAF20

NOMESCO Finland

Revision of shunt of ventricle of brain

+∞

7.3

AAF25

NOMESCO Finland

Removal of shunt of ventricle of brain

+∞

7.3

H02AB06

ATC

prednisolone; systemic

1.8

7.3

176

1218

L28

ICPC

Limited function/disability (L)

2.4

7.3

297

G37.9

ICD-10 Finland

Demyelinating disease of central nervous system, unspecified

16.1

7.3

R41.8

ICD-10 Finland

Other and unspecified symptoms and signs involving cognitive functions and awareness

3.2

7.2

124

J01EA01

ATC

trimethoprim; systemic

2.0

7.2

102

583

N18

ICPC

Paralysis/weakness

8.2

7.2

NA3CG

NOMESCO Finland

Lumbar spine extensive MRI examination with high intensity magnet

4.5

7.2

R01AD08

ATC

fluticasone; nasal

2.0

7.1

114

683

R42

ICD-10 Finland

Dizziness and giddiness

2.1

7.0

425

N02BE01

ATC

paracetamol; systemic, rectal

2.0

7.0

313

2644

Z03.89

ICD-10 Finland

Observation for other suspected diseases and conditions

2.5

6.9

247

R55

ICD-10 Finland

Syncope and collapse

2.7

6.8

182

ZXA05

NOMESCO Finland

Left side

2.0

6.8

538

ZXE30

NOMESCO Finland

More than five and less than seven hours

3.7

6.8

TKC20

NOMESCO Finland

Catheterisation of bladder

3.1

6.7

125

R56.8

ICD-10 Finland

Other and unspecified convulsions

3.5

6.7

L03AX13

ATC

glatiramer acetate; parenteral

23.0

6.7

N06AB04

ATC

citalopram; systemic

2.1

6.7

458

NA1AA

NOMESCO Finland

Cervical spine X-ray examination without contrast

5.0

6.6

M54.9

ICD-10 Finland

Dorsalgia, unspecified

2.6

6.6

199

R53

ICD-10 Finland

Malaise and fatigue

2.1

6.6

451

G62.9

ICD-10 Finland

Polyneuropathy, unspecified

5.5

6.5

J01DA01

ATC

[U] cefalexin; systemic

1.8

6.5

239

1863

F32.11

ICD-10 Finland

Moderate depressive episode with somatic syndrome

4.8

6.5

CS494

NOMESCO Finland

Other visual field testing

7.6

6.5

ZX120

NOMESCO Finland

Intravenous

2.7

6.4

176

D32.00

ICD-10 Finland

Benign tumor of the meninges on the outer surface of the cerebrum

14.6

6.4

T90.5

ICD-10 Finland

Sequelae of intracranial injury

14.6

6.4

R1230

NOMESCO Finland

Neuropsychological evaluation of need and possibilities to rehabilitation

14.6

6.4

N02AA05

ATC

oxycodone; systemic

2.4

6.4

259

Z71.2

ICD-10 Finland

Person consulting for explanation of investigation findings

2.0

6.4

541

M54.4

ICD-10 Finland

Lumbago with sciatica

2.3

6.3

302

N04BB01

ATC

amantadine; oral

9.5

6.3

N31.1

ICD-10 Finland

Reflex neuropathic bladder, not elsewhere classified

18.4

6.3

L03AB07

ATC

interferon beta-1a; parenteral

18.4

6.3

J01.0

ICD-10 Finland

Acute maxillary sinusitis

2.0

6.3

497

G95.0

ICD-10 Finland

Syringomyelia and syringobulbia

+∞

6.3

AAK00

NOMESCO Finland

Cranioplasty

+∞

6.3

AWC00

NOMESCO Finland

Reoperation of nervous system because of deep wound infection in the nervous system

+∞

6.3

G00.1

ICD-10 Finland

Pneumococcal meningitis

+∞

6.3

G82.1

ICD-10 Finland

Spastic paraplegia

+∞

6.3

T85.0

ICD-10 Finland

Mechanical complication of ventricular intracranial (communicating) shunt

+∞

6.3

G93.2

ICD-10 Finland

Benign intracranial hypertension

+∞

6.3

J01DB01

ATC

cefalexin; oral

1.9

6.2

307

2612

H53.2

ICD-10 Finland

Diplopia

5.9

6.2

J45.9

ICD-10 Finland

Asthma, unspecified

2.1

6.2

371

Y83.9

ICD-10 Finland

Surgical procedure, unspecified as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

5.0

6.1

ZXE11

NOMESCO Finland

Procedure duration 60 to 89 minutes

3.1

6.1

110

N31.9

ICD-10 Finland

Neuromuscular dysfunction of bladder, unspecified

12.8

6.1

N30.9

ICD-10 Finland

Cystitis, unspecified

3.4

6.1

ZXE00

NOMESCO Finland

One hour or less

1.7

6.0

150

1034

ZXE20

NOMESCO Finland

More than three and less than five hours

2.2

6.0

294

N06AA09

ATC

amitriptyline; systemic

2.5

6.0

211

Mortality – FinRegistry

↥

Association

Association between endpoint G6_CNSOTH and mortality.

Females

Parameter	HR [95% CI]	p-value
G6_CNSOTH	2.546 [1.94, 3.33]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.811

During the follow-up period (1.1.1998 — 31.12.2019), 160 out of 1017 females with G6_CNSOTH died.

Males

Parameter	HR [95% CI]	p-value
G6_CNSOTH	2.416 [1.86, 3.13]	< 0.001
Birth year	0.99 [0.98, 1.0]	0.03

During the follow-up period (1.1.1998 — 31.12.2019), 195 out of 815 males with G6_CNSOTH died.

Mortality risk

Mortality risk for people of age

years, who have G6_CNSOTH.

N-year risk	Females	Males
1	0.256%	0.513%
5	1.547%	2.716%
10	3.976%	7.605%
15	7.418%	14.388%
20	12.607%	23.066%

Relationships between endpoints

↥

Index endpoint: G6_CNSOTH – Other disorders of central nervous system

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_CNSOTH
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	G96
HD_ICD_9	3498A\|3492\|3499
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G96
COD_ICD_9	3498A\|3492\|3499
COD_ICD_8
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

Other disorders of central nervous system

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