Risteys · H7_PARASTRA4

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 — H49.1 Cause of death: ICD-10 — H49.1 2 out of 7 registries used, show all original rules.	788
4. Check minimum number of events None	788
5. Include endpoints None	788
6. Filter based on genotype QC (FinnGen only)	788

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	4786	2139	2632
Only index persons	4492	2022	2470
Unadjusted period prevalence (%)
Whole population	0.07	0.06	0.07
Only index persons	0.09	0.07	0.09
Median age at first event (years)
Whole population	57.12	55.81	58.14
Only index persons	57.65	56.67	58.46

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	788	399	389
Unadjusted period prevalence (%)	0.15	0.14	0.17
Median age at first event (years)	59.43	55.47	63.48

-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
722: Matched controls
7218

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H49.1

ICD-10 Finland

Fourth [trochlear] nerve palsy

+∞

323.0

722

H53.2

ICD-10 Finland

Diplopia

81.2

257.5

284

H50.2

ICD-10 Finland

Vertical strabismus

+∞

130.2

121

CEC00

NOMESCO Finland

Recession of extraocular muscle

+∞

80.8

XCW99

NOMESCO Finland

Other investigative procedure of eye

6.2

66.6

204

432

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

7.5

63.3

163

270

H49.2

ICD-10 Finland

Sixth [abducent] nerve palsy

285.9

52.9

AA1AD

NOMESCO Finland

CT of head and brain

3.7

51.5

292

1112

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

5.3

37.3

124

274

H49.0

ICD-10 Finland

Third [oculomotor] nerve palsy

+∞

36.8

CEC10

NOMESCO Finland

Recession and resection of extraocular muscle

+∞

35.7

H50.52

ICD-10 Finland

Exophoria

156.2

28.9

XCK00

NOMESCO Finland

Perimetry

4.8

27.3

227

Z01.0

ICD-10 Finland

Examination of eyes and vision

3.1

27.3

171

651

H50.1

ICD-10 Finland

Divergent concomitant strabismus

+∞

23.0

CEC60

NOMESCO Finland

Transposition of extraocular muscle with adjustable suture

+∞

22.0

CEW99

NOMESCO Finland

Other operation on extraocular muscle

205.3

19.6

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

6.6

19.6

AA1CM

NOMESCO Finland

Extensive MRI examination of brain with 3 Tesla magnet

8.2

18.0

CE2W4

NOMESCO Finland

Eye movement mapping

184.3

17.6

CEC20

NOMESCO Finland

Recession and advancement of extraocular muscle

+∞

16.7

GD1AA

NOMESCO Finland

Thorax X-ray examination

1.9

16.0

342

2286

H50.0

ICD-10 Finland

Convergent concomitant strabismus

+∞

15.7

TAB00

NOMESCO Finland

Lumbar puncture

4.5

15.5

133

PA6BD

NOMESCO Finland

Extensive CT of neck arteries

4.3

15.2

141

H50.31

ICD-10 Finland

Intermittent exotropia

+∞

14.6

AAB00

NOMESCO Finland

Extirpation of intracranial lesion

10.0

14.3

D32.02

ICD-10 Finland

Benign tumor of the meninges at the base of the brain

14.8

14.1

T90.5

ICD-10 Finland

Sequelae of intracranial injury

11.2

14.1

H50.9

ICD-10 Finland

Strabismus, unspecified

+∞

13.6

CEC90

NOMESCO Finland

Total transposition of extraocular muscle or muscles

+∞

13.6

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

1.8

13.2

301

2018

CA1CG

NOMESCO Finland

Eye and orbita extensive MRI examination with high intensity magnet

17.7

12.6

S06.2

ICD-10 Finland

Diffuse brain injury

9.2

11.8

SPAT1153

SPAT

Removal of sutures

1.8

11.8

251

1630

R51.80

ICD-10 Finland

Headache

2.3

11.7

115

549

H50.4

ICD-10 Finland

Other and unspecified heterotropia

+∞

11.5

D32.06

ICD-10 Finland

Benign tumor of the meninges os petrosum or clivus area

35.6

11.3

SPAT1223

SPAT

Implementation of physical therapy rehabilitation plan

1.8

10.9

223

1421

SPAT1301

SPAT

No procedures

1.8

10.6

240

1578

H50.8

ICD-10 Finland

Other specified strabismus

+∞

10.4

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

2.5

10.4

382

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

3.1

10.3

190

AA1BM

NOMESCO Finland

MRI examination of brain with 3 Tesla magnet

8.6

10.1

H53.1

ICD-10 Finland

Subjective visual disturbances

3.1

10.1

197

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

1.8

10.0

209

1334

UJF32

NOMESCO Finland

Coloscopy

1.8

9.9

191

1187

108

Kela drug reimbursment

Myasthenia gravis

30.4

9.4

H50.30

ICD-10 Finland

Intermittent esotropy

+∞

9.4

G70.0

ICD-10 Finland

Myasthenia gravis

22.0

9.4

S06.3

ICD-10 Finland

Focal brain injury

7.1

9.4

SPAT1263

SPAT

Sampling

1.6

9.0

301

2190

B01AC30

ATC

platelet aggregation inhibitors excl. heparin - combinations

2.7

8.9

235

SPAT1310

SPAT

Counselling related to known health issue

1.7

8.5

226

1538

ZXE10

NOMESCO Finland

More than one and less than three hours

1.6

8.5

259

1831

AAB10

NOMESCO Finland

Partial excision of intracranial lesion

8.0

8.4

H52.0

ICD-10 Finland

Hypermetropia

12.9

8.4

H52.3

ICD-10 Finland

Anisometropia and aniseikonia

+∞

8.3

CEC30

NOMESCO Finland

Resection of extraocular muscle

+∞

8.3

PA7BD

NOMESCO Finland

CT angiography of neck and brain

5.6

8.3

Z01.8

ICD-10 Finland

Other specified special examinations

1.8

8.2

154

942

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

1.9

8.2

122

689

9530/0-C70.0

ICD-O-3

Meningioma, NOS, of cerebral meninges

11.9

8.1

WX110

NOMESCO Finland

Local anesthesy

1.6

8.0

469

3887

N07AA02

ATC

pyridostigmine; systemic

13.2

7.9

N06AX11

ATC

mirtazapine; oral

1.7

7.9

213

1452

CS494

NOMESCO Finland

Other visual field testing

4.8

7.9

SPAT1256

SPAT

Intramuscular and subcutaneous injection

1.6

7.8

295

2194

SPAT1312

SPAT

General health counselling

1.6

7.7

226

1572

CS5Z4

NOMESCO Finland

Specialised imaging for glaucoma

4.8

7.7

WX140

NOMESCO Finland

Parabulbar anesthesy

3.0

7.6

140

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

2.2

7.5

340

N02BE01

ATC

paracetamol; systemic, rectal

1.7

7.5

605

5404

R42

ICD-10 Finland

Dizziness and giddiness

1.8

7.4

150

937

3503

FHL

Single muscle retroposition

+∞

7.3

CEC80

NOMESCO Finland

Partial transposition of extraocular muscle

+∞

7.3

ZXA10

NOMESCO Finland

Bilateral

1.8

7.3

135

819

SPAT1249

SPAT

Treatment-related counselling outside office

1.6

7.2

277

2055

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

2.8

7.2

158

I67.1

ICD-10 Finland

Cerebral aneurysm, nonruptured

4.6

7.1

PA2CC

NOMESCO Finland

Cerebral very extensive angiography with X-ray

8.0

7.1

R29.8

ICD-10 Finland

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

2.3

7.1

280

AAF05

NOMESCO Finland

Ventriculoperitoneal shunt

5.4

7.1

182

Kela drug reimbursment

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

4.8

7.1

F05

ICPC

Visual disturbance other

4.0

7.0

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

1.8

7.0

118

692

N03AX14

ATC

levetiracetam; systemic

4.0

6.9

CK2S4

NOMESCO Finland

Plain photography of ocular fundus

2.5

6.9

210

AA1DM

NOMESCO Finland

Very extensive MRI examination of brain with 3 Tesla magnet

8.4

6.8

NA1AD

NOMESCO Finland

Cervical spine CT examination

3.0

6.8

128

S06.0

ICD-10 Finland

Concussion

2.1

6.7

390

H52.1

ICD-10 Finland

Myopia

6.5

6.7

SPAT1260

SPAT

Consultation of another employee

1.7

6.6

131

812

H50.51

ICD-10 Finland

Esophoria

70.4

6.4

H52.2

ICD-10 Finland

Astigmatism

14.5

6.4

D32.00

ICD-10 Finland

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

5.6

6.3

3785A

ICD-9 Finland

Strabismus and other disorders of binocular eye movements, Paralytic strabismus

+∞

6.3

H50.59

ICD-10 Finland

Heterophor UNS

+∞

6.3

W01

ICD-10 Finland

Fall on same level from slipping, tripping and stumbling

1.6

6.2

205

1458

TCG00

NOMESCO Finland

Protection of cornea and sclera with soft lens

26.9

6.2

G91.1

ICD-10 Finland

Obstructive hydrocephalus

26.9

6.2

Mortality – FinRegistry

↥

Association

Association between endpoint H7_PARASTRA4 and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_PARASTRA4	1.027 [0.87, 1.22]	0.763
Birth year	0.993 [0.98, 1.0]	0.094

During the follow-up period (1.1.1998 — 31.12.2019), 244 out of 1915 females with H7_PARASTRA4 died.

Males

Parameter	HR [95% CI]	p-value
H7_PARASTRA4	1.067 [0.92, 1.24]	0.381
Birth year	0.984 [0.97, 0.99]	0.001

During the follow-up period (1.1.1998 — 31.12.2019), 423 out of 2325 males with H7_PARASTRA4 died.

Mortality risk

Mortality risk for people of age

years, who have H7_PARASTRA4.

N-year risk	Females	Males
1	0.062%	0.187%
5	0.54%	1.149%
10	1.428%	2.73%
15	2.727%	5.162%
20	4.625%	8.737%

Relationships between endpoints

↥

Index endpoint: H7_PARASTRA4 – Fourth [trochlear] nerve palsy

GWS hits: 1

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	H7_PARASTRA4
CONTROL_EXCLUDE	H7_OCUMUSCLE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H491
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	H491
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

Fourth [trochlear] nerve palsy

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