Risteys · E4_PORPHYNAS

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 — E80.2# Hospital discharge: ICD-9 — 2771 Hospital discharge: ICD-8 — 2731 Hospital discharge: excluded ICD-9 — 2771B Hospital discharge: excluded ICD-8 — 27310 Cause of death: ICD-10 — E80.2# Cause of death: ICD-9 — 2771 Cause of death: ICD-8 — 2731 2 out of 7 registries used, show all original rules.	61
4. Check minimum number of events None	61
5. Include endpoints None	61
6. Filter based on genotype QC (FinnGen only)	61

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	538	301	234
Only index persons	443	260	183
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	39.54	37.46	42.05
Only index persons	37.68	37.08	38.53

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	61	27	34
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	43.74	37.13	49.00

-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

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
56: Matched controls
561

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E80.2

ICD-10 Finland

Other porphyria

+∞

55.9

E80.0

ICD-10 Finland

Hereditary erythropoietic porphyria

+∞

10.8

E80.1

ICD-10 Finland

Porphyria cutanea tarda

+∞

9.6

27311

ICD-8 Finland

Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens

+∞

8.5

A11CC03

ATC

alfacalcidol; systemic

30.5

6.4

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3020123) Porphyrins [Interpretation] in Serum or Plasma

+∞

10.72

1.8

0.0

—

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

4.90

7.57

6.5

1.9

25.8

21.9

0.65

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

9.68

3.88

4.3

2.1

u/ml

3.8

2.4

—

(3000494) Fungus identified in Specimen by Culture

3.45

3.88

1.1

1.5

—

(3018418) pH of Serum or Plasma

142

2.80

3.70

8.9

3.6

7.4

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

229

2.75

3.55

10.0

5.0

mmol/l

1.2

0.02

196

(42870588) Differential panel, method unspecified - Blood

164

2.63

3.36

9.1

5.6

—

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

284

2.74

3.22

12.6

9.1

e9/l

3.8

3.9

0.14

255

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

115

2.43

2.59

2.5

2.1

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

2.78

2.51

2.6

1.5

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

2.60

2.34

2.2

1.6

—

(3042936) Bacteria identified in Isolate by Culture

2.54

2.34

2.9

1.7

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.98

2.33

1.6

2.4

nmol/l

365.1

395.4

0.13

(3044290) Cell count panel - Cerebral spinal fluid

5.33

2.11

4.4

1.8

—

(3032080) INR in Blood by Coagulation assay

202

2.09

2.07

15.0

7.0

inr

1.3

1.2

—

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

111

2.19

1.99

4.0

2.6

e6/l

8.6

5.6

0.33

101

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

2.70

1.98

6.3

3.0

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

4.84

1.98

1.6

1.1

—

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

105

2.18

1.91

1.8

1.5

mg/l

1.3

0.9

0.20

(3044640) Blood type and Crossmatch panel - Blood

154

2.06

1.90

2.8

2.1

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

3.38

1.70

1.3

1.5

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

3.79

1.65

1.0

1.6

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

3.79

1.65

1.0

1.2

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

3.21

1.62

6.0

6.6

mmol/l

22.3

25.0

—

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

189

1.89

1.59

3.3

1.8

pmol/l

101.0

96.0

0.24

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

3.53

1.55

1.8

3.6

—

(3020630) Protein [Mass/volume] in Serum or Plasma

2.60

1.53

3.0

1.6

g/l

69.6

68.1

—

(36304419) Bacteria [Presence] in Urine

147

1.91

1.53

4.2

3.1

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

3.31

1.47

2.0

1.3

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

132

1.90

1.46

1.6

mmol/l

1.7

1.2

1.38

110

(40758558) Short blood count panel - Blood

138

1.80

1.25

8.1

6.4

—

(3034770) Mitochondria Ab [Titer] in Serum

2.77

1.24

1.0

1.3

—

(4035726)

2.27

1.24

1.3

1.4

—

(40761536) Microorganisms panel - Urine sediment

2.15

1.19

6.5

4.5

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

2.63

1.17

2.2

2.3

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

2.09

1.13

2.0

1.5

—

(3000991) Gas panel - Venous blood

2.09

1.13

15.3

4.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.34

1.12

3.4

1.5

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

2.38

1.05

15.2

8.3

mmol/l

24.5

25.0

—

(3052851) Hemolysis interference index of Serum or Plasma

2.38

1.05

4.2

3.5

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.94

1.02

20.9

23.7

—

1.5

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

1.00

0.0

1.0

—

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

229

1.61

1.00

3.4

3.8

—

(3009508) Creatinine [Moles/volume] in Urine

139

1.65

0.95

3.9

2.9

mmol/l

6.5

8.5

1.34

112

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

301

1.58

0.92

3.9

3.1

—

(3000492) Spirometry study

1.99

0.92

1.6

1.4

—

(3023368) Bacteria identified in Blood by Culture

132

1.64

0.90

4.2

4.3

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

1.68

0.81

1.5

1.6

pmol/l

420.3

447.6

—

(3015736) pH of Urine

191

1.52

0.79

2.7

3.0

—

(3007164) IgA [Mass/volume] in Serum or Plasma

102

1.62

0.77

1.5

g/l

2.0

2.4

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

2.18

0.76

2.4

2.7

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.09

0.74

7.0

7.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

342

1.49

0.71

4.9

3.8

—

(3019060) Gas panel - Arterial blood

1.79

0.65

1.0

4.3

—

(3002385) Erythrocyte distribution width [Ratio]

421

1.51

0.61

36.0

16.0

13.9

13.8

0.14

408

(3041096) Erythrocytes [Presence] in Urine by Automated

126

1.48

0.60

4.1

3.6

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

136

1.46

0.58

2.7

2.9

ng/l

1665.0

760.7

0.32

110

(40760892) CBC W Ordered Manual Differential panel - Blood

109

1.50

0.58

5.5

6.0

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.50

0.55

3.0

1.5

—

(3012516) Albumin [Mass/volume] in Urine

129

1.44

0.53

4.5

2.9

mg/l

6.6

15.7

1.16

(3000963) Hemoglobin [Mass/volume] in Blood

565

0.61

0.51

39.7

19.0

g/l

138.1

137.7

0.06

554

(3024731) MCV [Entitic volume]

565

0.61

0.51

39.5

18.9

91.2

90.9

0.14

555

(3010813) Leukocytes [#/volume] in Blood

565

0.61

0.51

39.6

18.9

e9/l

6.2

6.4

0.39

548

(3035941) MCH [Entitic mass]

565

0.61

0.51

39.4

18.8

30.5

30.4

0.12

555

(3026361) Erythrocytes [#/volume] in Blood

565

0.61

0.51

39.5

18.9

e12/l

4.6

0.01

548

(3007461) Platelets [#/volume] in Blood

565

0.61

0.51

39.6

18.9

e9/l

223.1

241.0

1.65

553

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

470

1.52

0.51

21.4

11.6

ml/min/173m2

74.3

82.5

0.95

376

(3012544) pH of Venous blood

1.55

0.50

12.9

2.8

—

(3009542) Hematocrit [Volume Fraction] of Blood

461

1.47

0.47

30.0

13.5

41.1

39.5

0.94

320

(3021601) Nitrite [Presence] in Urine by Test strip

246

1.34

0.47

5.1

4.3

estimate

0.0

—

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

190

1.34

0.44

4.3

3.2

—

(21494755) Public health laboratory ask at order entry panel

1.61

0.43

1.0

1.4

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.56

0.42

3.2

2.4

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.42

0.0

1.5

—

(3009261) Glucose [Presence] in Urine by Test strip

252

1.29

0.38

3.6

3.4

estimate

0.0

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.47

0.37

2.8

1.6

—

(1761868) Lipid panel - Serum or Plasma

164

0.74

0.37

5.5

2.6

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

1.40

0.35

6.3

6.0

g/l

135.8

123.8

—

(3035350) Ketones [Presence] in Urine by Test strip

245

1.26

0.33

3.6

3.4

estimate

0.0

—

(3044889) 12 lead EKG panel

356

1.26

0.32

5.7

3.8

—

(3020682) Albumin/Creatinine [Ratio] in Urine

140

1.30

0.32

6.0

3.5

mg/mmol

1.7

2.2

—

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

336

1.26

0.32

4.7

3.9

—

21.2

—

(3022145) Colonoscopy Study observation

1.28

0.30

1.6

1.4

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.36

0.30

3.2

1.8

—

(40761511) CBC panel - Blood by Automated count

537

0.79

0.27

29.4

11.5

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

182

1.23

0.26

6.5

3.2

ng/l

14.5

42.7

1.63

133

(3023103) Potassium [Moles/volume] in Serum or Plasma

527

1.44

0.26

27.0

13.8

mmol/l

4.0

0.05

512

(3019550) Sodium [Moles/volume] in Serum or Plasma

526

1.46

0.26

26.2

13.8

mmol/l

139.4

139.7

0.49

510

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

135

0.77

0.25

1.6

1.5

—

(36660697) Celiac disease serology panel - Serum

1.31

0.23

1.0

1.2

—

(3019225) pH of Specimen

1.31

0.23

5.0

2.7

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

507

1.35

0.23

23.5

12.5

mg/l

15.8

24.0

1.76

393

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.27

0.23

2.4

1.7

—

(4094501)

0.00

0.21

0.0

1.3

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.21

0.0

1.5

—

(3005715) Vancomycin [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

4.8

—

9.6

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.21

0.0

1.2

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.21

0.0

1.2

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.21

0.0

1.7

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.0

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

1.28

0.20

1.9

1.3

—

6.9

—

(40768797) Stomach Pathology biopsy report

1.17

0.18

1.0

1.3

—

(3013512) EKG study

150

1.18

0.17

4.1

3.2

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

532

1.34

0.16

25.9

14.9

umol/l

105.3

75.8

1.22

532

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

1.24

0.16

1.7

2.8

e6/l

0.6

1.4

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

1.22

0.16

1.6

2.6

e6/l

0.4

1.0

—

(3026008) Bacteria identified in Urine by Culture

145

1.14

0.10

3.4

2.7

—

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

1.18

0.10

2.0

1.4

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

493

0.88

0.09

6.5

4.4

mmol/l

4.5

4.6

0.51

451

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

0.80

0.08

1.8

1.6

—

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

0.82

0.08

1.8

1.6

—

(3002256) Pathology report gross observation

1.13

0.08

1.1

1.2

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

543

0.95

0.08

17.2

10.1

u/l

30.9

25.8

1.25

525

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

1.13

0.06

1.7

1.3

—

28.1

—

(40768804) Tissue Pathology biopsy report

207

0.95

0.01

3.0

2.2

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

176

0.95

0.00

5.6

4.2

25.7

22.1

—

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

191

0.99

0.00

4.2

3.7

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

3.2

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

3.4

—

6.9

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.3

—

6.6

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

67.6

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.3

—

(4211845)

0.00

0.0

1.6

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.6

—

0.5

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

0.0

1.0

—

266.1

—

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

0.00

0.0

2.4

—

105.9

—

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

0.00

0.0

2.4

—

4.0

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3009466) Valproate [Moles/volume] in Serum or Plasma

0.00

0.0

2.3

—

321.8

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.0

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

(4146454)

0.00

0.0

1.4

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

2.6

—

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

0.00

0.0

1.1

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.0

—

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

0.00

0.0

2.4

—

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

120

1.00

0.00

2.5

3.0

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.4

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.2

—

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

0.99

0.00

1.8

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

3.1

—

28.0

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

1.4

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

0.0

3.1

—

1.6

—

(3006462) Nitrate [Presence] in Urine

0.00

0.0

1.6

—

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

0.98

0.00

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PORPHYNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PORPHYNAS.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: E4_PORPHYNAS – Other porphyria

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	E4_PORPHYNAS
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E802
HD_ICD_9	2771
HD_ICD_8	2731
HD_ICD_10_EXCL
HD_ICD_9_EXCL	2771B
HD_ICD_8_EXCL	27310
COD_MAINONLY
COD_ICD_10	E802
COD_ICD_9	2771
COD_ICD_8	2731
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 porphyria

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints