Risteys · H7_KERATOPATHY

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 — H59.0 Cause of death: ICD-10 — H59.0 2 out of 7 registries used, show all original rules.	26
4. Check minimum number of events None	26
5. Include endpoints None	26
6. Filter based on genotype QC (FinnGen only)	26

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	334	207	121
Only index persons	281	180	101
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	75.32	77.72	71.16
Only index persons	74.34	77.04	69.54

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	26	15	11
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	71.08	74.96	65.78

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3018677) aPTT in Platelet poor plasma by Coagulation assay

4.35

2.62

1.4

2.4

27.78

28.09

—

(40761511) CBC panel - Blood by Automated count

209

+∞

2.18

21.5

16.1

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

119

3.20

1.91

6.7

6.1

10.37

10.27

umol/l

0.03

112

(3044889) 12 lead EKG panel

152

2.97

1.47

4.4

4.7

—

(3032080) INR in Blood by Coagulation assay

101

2.52

1.38

12.3

9.5

1.40

1.36

inr

—

(3023368) Bacteria identified in Blood by Culture

2.42

1.30

5.4

4.1

—

(36304419) Bacteria [Presence] in Urine

2.38

1.25

3.7

2.7

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

138

2.39

1.20

6.0

5.5

7.58

6.86

mmol/l

0.64

126

(3013650) Neutrophils [#/volume] in Blood by Automated count

120

2.20

1.17

12.3

8.7

4.82

4.77

e9/l

0.02

108

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.38

0.97

1.2

1.8

—

(42870588) Differential panel, method unspecified - Blood

2.11

0.96

4.3

5.8

—

(3026008) Bacteria identified in Urine by Culture

2.06

0.92

2.8

3.7

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.21

0.91

1.2

1.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

159

2.11

0.86

4.5

5.5

—

(4010399)

0.00

0.84

0.0

1.2

—

(40758558) Short blood count panel - Blood

1.88

0.83

11.4

8.3

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

2.44

0.81

3.6

1.5

—

(3012544) pH of Venous blood

2.33

0.79

2.6

2.5

—

(3000494) Fungus identified in Specimen by Culture

2.23

0.77

1.0

1.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

173

2.11

0.73

26.8

20.6

38.93

38.65

0.06

102

(3001604) Monocytes [#/volume] in Blood

101

1.84

0.70

7.4

6.0

0.62

0.61

e9/l

0.03

(3006315) Basophils [#/volume] in Blood

102

1.81

0.67

7.4

6.1

0.04

e9/l

0.16

(3012516) Albumin [Mass/volume] in Urine

1.81

0.64

2.9

3.0

12.20

31.95

mg/l

—

(3019198) Lymphocytes [#/volume] in Blood

103

1.78

0.64

7.7

6.1

1.56

1.66

e9/l

0.15

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

1.65

0.61

2.0

2.5

3.07

3.30

mg/l

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

0.00

0.61

0.0

1.3

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

1.74

0.59

4.1

3.2

—

(3022096) Basophils/100 leukocytes in Blood

1.71

0.56

6.5

0.77

0.59

0.49

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

1.71

0.56

4.3

4.0

—

(3013707) Erythrocyte sedimentation rate by Westergren method

168

1.82

0.55

4.5

5.5

9.90

15.95

mm/h

2.22

150

(3013115) Eosinophils [#/volume] in Blood

106

1.69

0.55

7.8

6.2

0.19

0.17

e9/l

0.10

(3031040) Bacteria [#/volume] in Urine by Automated count

160

1.69

0.53

5.5

5.6

—

257.00

—

(3042936) Bacteria identified in Isolate by Culture

1.75

0.46

1.2

1.4

—

(3006504) Eosinophils/100 leukocytes in Blood

100

1.60

0.46

6.5

3.23

2.65

0.25

(3019069) Monocytes/100 leukocytes in Blood

100

1.60

0.46

6.5

6.9

8.85

8.50

0.16

(3000850) Epithelial cells [#/volume] in Urine

1.55

0.46

2.7

2.5

4.37

4.82

e6/l

—

(3002030) Lymphocytes/100 leukocytes in Blood

101

1.57

0.43

6.8

21.77

24.12

0.33

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

111

1.57

0.43

2.4

2.0

99.09

96.80

pmol/l

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.00

0.41

0.0

1.5

—

(3026493) Urate [Moles/volume] in Serum or Plasma

0.66

0.31

1.0

3.2

391.00

367.06

umol/l

—

(3013512) EKG study

0.69

0.30

6.2

4.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.35

0.24

8.0

5.4

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.36

0.23

1.2

1.9

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.32

0.22

1.5

2.4

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.22

0.0

2.3

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.22

0.0

4.1

—

24.52

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.22

0.0

1.9

—

0.95

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.22

0.0

1.7

—

(3022313) Gas panel - Capillary blood

0.00

0.22

0.0

3.5

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.22

0.0

2.1

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.22

0.0

1.8

—

0.78

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.22

0.0

7.2

—

(3019309) Folate [Moles/volume] in Red Blood Cells

1.20

0.20

2.0

1.8

856.43

1177.58

nmol/l

—

(3044640) Blood type and Crossmatch panel - Blood

1.23

0.19

1.9

2.5

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

1.31

0.17

2.2

2.5

96.30

106.70

ug/l

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.23

0.11

1.0

2.0

16.00

21.62

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.11

0.10

1.2

2.0

8.46

13.33

umol/l

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.12

0.09

3.3

3.6

—

(1761868) Lipid panel - Serum or Plasma

0.75

0.09

2.6

3.9

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.10

0.08

1.9

2.4

45.38

53.85

u/l

—

(40768804) Tissue Pathology biopsy report

1.17

0.08

1.7

2.4

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

0.83

0.08

4.3

4.6

—

(3015736) pH of Urine

1.05

0.00

1.7

3.9

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

2.3

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

2.3

—

3.98

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.2

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

2.3

—

109.67

—

(4034850)

0.00

0.0

32.5

—

(3018010) Neutrophils/100 leukocytes in Blood

100

1.00

0.00

8.5

6.4

57.20

59.78

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.6

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.92

0.00

5.3

4.8

—

(3003694) ABO and Rh group [Type] in Blood

0.91

0.00

1.6

1.2

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

0.00

0.0

4.1

—

26.74

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

0.0

1.1

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

3.8

—

87.82

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

4.2

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

2.0

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

1.8

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

1.00

0.00

1.4

2.4

4.40

1.15

mg/l

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

100

1.00

0.00

1.8

2.2

—

(1002224) Polysomnography panel

0.00

0.0

1.2

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.0

2.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint H7_KERATOPATHY and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_KERATOPATHY	1.236 [0.93, 1.64]	0.141
Birth year	0.999 [0.99, 1.01]	0.78

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 182 females with H7_KERATOPATHY died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have H7_KERATOPATHY.

N-year risk	Females	Males
1	0.138%	No data
5	0.719%	No data
10	2.05%	No data
15	3.683%	No data
20	6.548%	No data

Relationships between endpoints

↥

Index endpoint: H7_KERATOPATHY – Keratopathy (bullous aphakic) following cataract surgery

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	H7_KERATOPATHY
CONTROL_EXCLUDE	H7_EYEPOSTOP
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H590
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	H590
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

Keratopathy (bullous aphakic) following cataract surgery

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints