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 — G83.1, G83.2, G83.3 Cause of death: ICD-10 — G83.1, G83.2, G83.3 2 out of 7 registries used, show all original rules.	538
4. Check minimum number of events None	538
5. Include endpoints None	538
6. Filter based on genotype QC (FinnGen only)	538

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	3782	1832	1917
Only index persons	3338	1651	1687
Unadjusted period prevalence (%)
Whole population	0.05	0.05	0.05
Only index persons	0.06	0.06	0.06
Median age at first event (years)
Whole population	57.60	56.77	58.25
Only index persons	56.05	55.02	57.06

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	538	304	234
Unadjusted period prevalence (%)	0.10	0.10	0.10
Median age at first event (years)	57.25	54.08	61.38

-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)

↥

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
477: Matched controls
4767

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G83.1

ICD-10 Finland

Monoplegia of lower limb

4725.2

257.6

225

G83.2

ICD-10 Finland

Monoplegia of upper limb

+∞

206.8

183

G83.3

ICD-10 Finland

Monoplegia, unspecified

+∞

86.1

G81.9

ICD-10 Finland

Hemiplegia, unspecified

+∞

37.0

TAB00

NOMESCO Finland

Lumbar puncture

10.4

32.3

AA1AD

NOMESCO Finland

CT of head and brain

3.6

31.6

181

692

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

5.1

29.7

102

240

Z3226

NOMESCO Finland

Physiotherapist

3.6

26.5

144

515

NA1BG

NOMESCO Finland

Cervical spine MRI examination with high intensity magnet

6.7

25.7

115

M51.1

ICD-10 Finland

Lumbar and other intervertebral disc disorders with radiculopathy

3.9

25.0

117

368

N02AX02

ATC

tramadol; systemic, rectal

2.8

24.6

259

1436

R4110

NOMESCO Finland

Physiotherapy

3.0

24.2

182

816

N03AX12

ATC

gabapentin; oral

3.6

24.1

125

427

R29.8

ICD-10 Finland

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

4.8

22.7

195

N03AX16

ATC

pregabalin; oral

2.9

21.7

169

763

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

4.5

21.1

205

NA3BG

NOMESCO Finland

Lumbar spine MRI examination with high intensity magnet

4.1

20.7

246

XF400

NOMESCO Finland

ECG with 12 standard connections

3.2

20.6

127

486

L28

ICPC

Limited function/disability (L)

3.3

19.2

111

405

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

4.4

18.5

183

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

5.3

18.5

121

Z2446

NOMESCO Finland

Social worker

4.8

17.6

142

W01

ICD-10 Finland

Fall on same level from slipping, tripping and stumbling

2.5

17.4

173

878

NA1CG

NOMESCO Finland

Cervical spine extensive MRI examination with high intensity magnet

14.0

17.2

Z3231

NOMESCO Finland

Registered nurse

2.5

17.1

168

848

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

3.0

16.8

109

428

R4120

NOMESCO Finland

Occupational therapy

4.4

16.8

159

NA3CG

NOMESCO Finland

Lumbar spine extensive MRI examination with high intensity magnet

6.3

16.6

G57.3

ICD-10 Finland

Lesion of lateral popliteal nerve

17.5

16.2

M54.5

ICD-10 Finland

Low back pain

2.4

16.1

190

1044

R20.2

ICD-10 Finland

Paraesthesia of skin

4.7

15.9

132

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

3.0

15.8

103

403

G82.2

ICD-10 Finland

Paraplegia, unspecified

+∞

15.7

R51.80

ICD-10 Finland

Headache

2.9

15.4

102

404

N02AE01

ATC

buprenorphine; parenteral, sublingual, transdermal

3.1

15.4

344

N03AE01

ATC

clonazepam; systemic

4.6

15.3

128

M03BX01

ATC

baclofen; systemic

10.6

15.2

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

3.6

15.0

215

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

3.8

14.3

184

N02AA05

ATC

oxycodone; systemic

2.9

14.1

390

M47.2

ICD-10 Finland

Other spondylosis with radiculopathy

4.1

14.1

149

M54.4

ICD-10 Finland

Lumbago with sciatica

2.7

13.9

105

446

ZXD35

NOMESCO Finland

Usual procedure

5.8

13.5

NA7DG

NOMESCO Finland

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

21.9

13.4

R1250

NOMESCO Finland

Evaluation of functional capability

8.9

12.9

R56.8

ICD-10 Finland

Other and unspecified convulsions

4.6

12.8

106

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

2.6

12.7

101

443

M54.1

ICD-10 Finland

Radiculopathy

5.5

12.6

ZXE06

NOMESCO Finland

Procedure duration 50 to 59 minutes

4.4

12.4

110

M79.6

ICD-10 Finland

Pain in limb

2.1

12.4

193

1168

A28

ICPC

Limited function/disability NOS

2.7

12.4

381

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

3.7

12.3

157

Z2221

NOMESCO Finland

Medical doctor

2.2

12.1

154

853

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.6

11.8

432

N06AX21

ATC

duloxetine; oral

3.1

11.7

249

TPH04

NOMESCO Finland

Cathetrisation of vein

2.3

11.6

122

616

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.7

11.5

361

F32.9

ICD-10 Finland

Depressive episode, unspecified

2.9

11.4

287

N18

ICPC

Paralysis/weakness

9.2

11.4

N06AX11

ATC

mirtazapine; oral

2.1

11.3

165

962

WX404

NOMESCO Finland

Intravenous generell anesthesy

2.3

11.3

116

579

WX408

NOMESCO Finland

General anesthesy, balanced

2.2

11.2

145

805

NA7CG

NOMESCO Finland

Spine and spinal cord extensive MRI examination with high intensity magnet

10.4

11.1

I69.3

ICD-10 Finland

Sequelae of cerebral infarction

3.5

11.0

161

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

3.4

11.0

178

NA2BG

NOMESCO Finland

Thoracal spine MRI examination with high intensity magnet

6.7

11.0

GD1PA

NOMESCO Finland

X-ray examination of the lungs in one projection

3.3

10.9

185

M54.9

ICD-10 Finland

Dorsalgia, unspecified

2.9

10.9

261

WX892

NOMESCO Finland

Monitored bed care

3.4

10.9

174

R06.0

ICD-10 Finland

Dyspnoea

2.2

10.9

136

744

GD1AA

NOMESCO Finland

Thorax X-ray examination

1.9

10.7

219

1453

T36

ICD-10 Finland

Poisoning by systemic antibiotics

4.7

10.5

ZXD10

NOMESCO Finland

Scheduled procedure

1.9

10.4

200

1293

ZXD05

NOMESCO Finland

Urgent procedure

2.0

10.3

163

976

ZXE10

NOMESCO Finland

More than one and less than three hours

1.9

10.1

189

1206

N02AA59

ATC

codeine, combinations excl. psycholeptics; systemic

1.9

9.9

226

1545

N06AX16

ATC

venlafaxine; oral

2.5

9.8

354

N05AH04

ATC

quetiapine; oral

2.4

9.7

444

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

5.3

9.7

B01AB05

ATC

enoxaparin; parenteral

2.0

9.7

160

970

ZXE03

NOMESCO Finland

Procedure duration 20 to 29 minutes

3.7

9.4

119

G82.1

ICD-10 Finland

Spastic paraplegia

+∞

9.4

NA3AD

NOMESCO Finland

Lumbar spine and sacrum CT examination

5.6

9.2

J45.0

ICD-10 Finland

Predominantly allergic asthma

3.0

9.1

185

R42

ICD-10 Finland

Dizziness and giddiness

2.1

9.1

115

626

ZX120

NOMESCO Finland

Intravenous

2.9

9.0

211

M03BC01

ATC

orphenadrine (citrate); systemic

2.0

9.0

128

731

L17

ICPC

Foot/toe symptom/complaint

2.0

8.9

134

781

Z71.8

ICD-10 Finland

Other specified counselling

2.0

8.9

121

679

G35

ICD-10 Finland

Multiple sclerosis

11.0

8.8

XKD06

NOMESCO Finland

Physiologic investigation of micturition

5.0

8.8

NA1AD

NOMESCO Finland

Cervical spine CT examination

4.3

8.8

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

1.9

8.7

177

1146

X59

ICD-10 Finland

Exposure to unspecified factor

2.2

8.6

487

G44.2

ICD-10 Finland

Tension-type headache

2.4

8.5

349

X69

ICD-10 Finland

Intentional self-poisoning by and exposure to other and unspecified chemicals and noxious substances

5.0

8.5

J01MA02

ATC

ciprofloxacin; systemic

1.8

8.4

197

1336

M48.0

ICD-10 Finland

Spinal stenosis

2.4

8.4

331

ZXE11

NOMESCO Finland

Procedure duration 60 to 89 minutes

3.4

8.4

126

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

2.2

8.4

492

SPAT1229

SPAT

Assessment of need for aid

2.9

8.3

188

X57

ICD-10 Finland

Unspecified privation

6.7

8.3

Z04.8

ICD-10 Finland

Examination and observation for other specified reasons

2.4

8.2

315

Z2445

NOMESCO Finland

Psychologist

4.3

8.2

C03CA01

ATC

furosemide; systemic

1.9

8.2

140

849

S06.0

ICD-10 Finland

Concussion

2.7

8.2

235

ZXE05

NOMESCO Finland

Procedure duration 40 to 49 minutes

3.4

8.2

117

NA2CG

NOMESCO Finland

Thoracal spine extensive MRI examination with high intensity magnet

12.0

8.1

RS220

NOMESCO Finland

10.3

8.1

ZXE20

NOMESCO Finland

More than three and less than five hours

2.3

8.0

390

WX110

NOMESCO Finland

Local anesthesy

1.8

8.0

321

2560

N03AX11

ATC

topiramate; oral

5.6

7.9

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

1.9

7.9

144

895

C07AB07

ATC

bisoprolol; oral

1.7

7.9

220

1568

H02AB06

ATC

prednisolone; systemic

1.7

7.8

224

1608

N28

ICPC

Limited function/disability (N)

6.1

7.8

N05BA01

ATC

diazepam; systemic, rectal

2.3

7.7

369

G56.2

ICD-10 Finland

Lesion of ulnar nerve

4.4

7.6

R26.8

ICD-10 Finland

Other and unspecified abnormalities of gait and mobility

5.9

7.6

N17

ICPC

Vertigo/dizziness

2.5

7.6

259

L86

ICPC

Back syndrome with radiating pain

3.2

7.5

125

Z01.8

ICD-10 Finland

Other specified special examinations

2.0

7.5

111

636

N02AJ06

ATC

codeine and paracetamol; systemic

1.8

7.5

175

1177

NB1AA

NOMESCO Finland

Shoulder X-ray examination without contrast

2.9

7.4

156

NE1AA

NOMESCO Finland

Pelvis X-ray examination

3.2

7.3

122

ZY010

NOMESCO Finland

Hospital outpatient

3.7

7.3

M54.2

ICD-10 Finland

Cervicalgia

2.9

7.3

164

N06CA01

ATC

amitriptyline and psycholeptics; systemic

2.5

7.3

247

N03AX09

ATC

lamotrigine; oral

3.6

7.2

G43.1

ICD-10 Finland

Migraine with aura [classical migraine]

3.1

7.2

129

R20.1

ICD-10 Finland

Hypoaesthesia of skin

30.5

7.2

J18.9

ICD-10 Finland

Pneumonia, unspecified

1.9

7.2

115

681

N86

ICPC

Multiple sclerosis

20.4

7.2

X58

ICD-10 Finland

Exposure to other specified factors

2.2

7.1

366

N10

ICD-10 Finland

Acute tubulo-interstitial nephritis

2.3

7.1

303

H53.1

ICD-10 Finland

Subjective visual disturbances

3.0

7.1

141

S13.4

ICD-10 Finland

Sprain and strain of cervical spine

4.4

7.0

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

2.7

6.9

185

ZXE00

NOMESCO Finland

One hour or less

1.7

6.9

192

1349

B01AC30

ATC

platelet aggregation inhibitors excl. heparin - combinations

2.9

6.9

145

R50.9

ICD-10 Finland

Fever, unspecified

2.2

6.9

366

R10.1

ICD-10 Finland

Pain localized to upper abdomen

2.1

6.9

440

A01

ICPC

Pain general/multiple sites

2.7

6.9

188

M03BX02

ATC

tizanidine; oral

1.7

6.8

284

2237

PA6AG

NOMESCO Finland

Limited MRI examination of neck vasculature with high intensity magnet

17.0

6.8

RS221

NOMESCO Finland

7.3

6.7

W10

ICD-10 Finland

Fall on and from stairs and steps

3.4

6.7

ZXE04

NOMESCO Finland

Procedure duration 30 to 39 minutes

2.9

6.7

148

A49.9

ICD-10 Finland

Bacterial infection, unspecified

2.4

6.7

264

W00

ICD-10 Finland

Fall on same level involving ice and snow

2.4

6.7

264

KC1EE

NOMESCO Finland

Ultrasound measurement of residual urine

2.2

6.7

325

G37.9

ICD-10 Finland

Demyelinating disease of central nervous system, unspecified

22.9

6.7

G62.9

ICD-10 Finland

Polyneuropathy, unspecified

4.2

6.7

F33.9

ICD-10 Finland

Recurrent depressive disorder, unspecified

4.0

6.7

R07.4

ICD-10 Finland

Chest pain, unspecified

1.8

6.7

138

887

XA800

NOMESCO Finland

Neuropsychological investigation

3.4

6.6

NH3AA

NOMESCO Finland

Foot and toes X-ray examination

2.6

6.5

199

F43.29

ICD-10 Finland

Adaptation disorder UNS

5.5

6.5

R33

ICD-10 Finland

Retention of urine

2.7

6.5

170

215

Kela drug reimbursment

Diabetes, non-insulin-treated

1.8

6.5

113

686

IAA01

NOMESCO Finland

Assessment of need for psychiatric treatment

4.8

6.5

ZXE13

NOMESCO Finland

Procedure duration 90 to 119 minutes

4.0

6.5

PA6DE

NOMESCO Finland

Neck artery ultrasound examination with Doppler method

3.2

6.5

105

R55

ICD-10 Finland

Syncope and collapse

2.3

6.5

289

G95.1

ICD-10 Finland

Vascular myelopathies

70.8

6.4

G45.9

ICD-10 Finland

Transient cerebral ischaemic attack, unspecified

2.5

6.4

202

NG4AA

NOMESCO Finland

Lower leg X-ray examination

4.5

6.4

N06AA09

ATC

amitriptyline; systemic

2.3

6.4

269

IGY01

NOMESCO Finland

Accelerated psychiatric treatment contact

6.7

6.4

F60.31

ICD-10 Finland

Emotionally unstable personality disorder, borderline condition

8.3

6.4

109

Kela drug reimbursment

Multiple sclerosis

11.2

6.3

JN4BD

NOMESCO Finland

Extensive body CT

2.4

6.3

250

N02BE01

ATC

paracetamol; systemic, rectal

1.8

6.3

399

3503

P99

ICPC

Psychological disorders other

4.9

6.3

H53.2

ICD-10 Finland

Diplopia

3.9

6.3

G83.8

ICD-10 Finland

Other specified paralytic syndromes

+∞

6.3

PA6BD

NOMESCO Finland

Extensive CT of neck arteries

3.2

6.2

102

L01

ICPC

Neck symptom/complaint

2.1

6.2

359

G43.0

ICD-10 Finland

Migraine without aura [common migraine]

3.3

6.1

R53

ICD-10 Finland

Malaise and fatigue

1.9

6.1

100

595

N29

ICPC

Neurological sympt/complt other

5.3

6.1

M89.0

ICD-10 Finland

Algoneurodystrophy

10.2

6.1

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

2.9

6.1

127

J01DA01

ATC

[U] cefalexin; systemic

1.6

6.0

290

2339

Mortality – FinRegistry

↥

Association

Association between endpoint G6_MONOPLE and mortality.

Females

Parameter	HR [95% CI]	p-value
G6_MONOPLE	2.189 [1.82, 2.63]	< 0.001
Birth year	0.996 [0.99, 1.0]	0.326

During the follow-up period (1.1.1998 — 31.12.2019), 462 out of 1605 females with G6_MONOPLE died.

Males

Parameter	HR [95% CI]	p-value
G6_MONOPLE	2.165 [1.83, 2.56]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.003

During the follow-up period (1.1.1998 — 31.12.2019), 563 out of 1664 males with G6_MONOPLE died.

Mortality risk

Mortality risk for people of age

years, who have G6_MONOPLE.

N-year risk	Females	Males
1	0.199%	0.476%
5	1.338%	2.423%
10	3.21%	5.915%
15	6.149%	11.001%
20	10.489%	18.359%

Relationships between endpoints

↥

Index endpoint: G6_MONOPLE – Monoplegia

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_MONOPLE
CONTROL_EXCLUDE	G6_CPETAL
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G83[1-3]
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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	G83[1-3]
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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

Monoplegia

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