Risteys · E4

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 — E74.1 Hospital discharge: ICD-9 — 2712 Hospital discharge: ICD-8 — 27180 Cause of death: ICD-10 — E74.1 Cause of death: ICD-9 — 2712 Cause of death: ICD-8 — 27180 2 out of 7 registries used, show all original rules.	17
4. Check minimum number of events None	17
5. Include endpoints None	17
6. Filter based on genotype QC (FinnGen only)	17

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	142	69	71
Only index persons	102	54	48
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	31.25	37.41	24.20
Only index persons	25.39	29.98	20.24

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	17	12	5
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	32.10	24.74	49.77

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

3.37

1.61

2.6

2.0

u/l

65.9

53.9

—

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

0.00

1.09

0.0

2.1

—

0.4

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

0.87

0.0

2.1

—

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

0.00

0.87

0.0

2.1

—

2.1

—

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

0.00

0.86

0.0

2.3

—

(42870588) Differential panel, method unspecified - Blood

2.19

0.83

3.1

6.5

—

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

2.11

0.73

7.0

6.3

umol/l

8.8

9.5

—

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

135

0.48

0.67

16.4

12.2

mg/l

26.0

23.5

0.11

100

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.64

0.0

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.95

0.64

6.0

6.1

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

1.89

0.51

9.1

6.9

u/l

83.8

73.1

0.34

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.43

0.0

1.7

—

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

0.00

0.43

0.0

1.8

—

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

1.77

0.43

1.0

2.0

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

106

0.68

0.35

6.6

4.7

mmol/mol

37.8

37.9

—

100

(3018010) Neutrophils/100 leukocytes in Blood

1.53

0.35

4.7

5.7

56.1

56.4

—

(3002030) Lymphocytes/100 leukocytes in Blood

1.49

0.34

4.7

6.2

31.2

29.0

—

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

1.44

0.26

1.8

umol/l

322.6

329.8

—

(1761868) Lipid panel - Serum or Plasma

1.46

0.23

2.9

2.6

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

0.00

0.22

0.0

1.4

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.22

0.0

3.1

—

32.8

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

0.00

0.22

0.0

5.5

—

234.2

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.22

0.0

1.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.22

0.0

1.2

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.22

0.0

3.6

—

(3027008) Opiates [Presence] in Urine

0.00

0.22

0.0

1.2

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.22

0.0

1.2

—

(3019225) pH of Specimen

0.00

0.22

0.0

2.0

—

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

0.00

0.22

0.0

1.5

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.22

0.0

1.9

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.3

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.3

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.21

0.0

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

0.74

0.21

4.4

4.1

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.21

0.0

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.4

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.4

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.21

0.0

1.4

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.4

—

(3044889) 12 lead EKG panel

1.29

0.21

4.1

3.2

—

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

1.27

0.11

1.2

3.5

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

127

0.81

0.11

4.4

3.5

mmol/l

2.8

2.7

0.13

118

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

126

0.84

0.11

4.1

3.3

mmol/l

5.2

4.6

1.30

117

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

125

0.86

0.11

4.1

3.3

mmol/l

1.9

1.5

1.83

116

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

115

0.88

0.10

4.5

4.2

—

(3022096) Basophils/100 leukocytes in Blood

1.27

0.10

5.0

6.1

0.6

—

(3006504) Eosinophils/100 leukocytes in Blood

1.21

0.10

5.3

6.0

2.4

2.5

—

(3019069) Monocytes/100 leukocytes in Blood

1.21

0.10

5.4

6.2

8.3

7.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.4

—

458.0

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

0.00

0.0

1.3

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.0

3.4

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.0

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.3

—

(3022621) pH of Urine by Test strip

0.00

0.0

4.0

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

120

1.00

0.00

3.9

3.0

mmol/l

1.2

0.03

110

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.1

—

(40768804) Tissue Pathology biopsy report

0.90

0.00

1.0

1.8

—

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

0.00

0.0

1.3

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.0

1.0

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.90

0.00

5.7

3.9

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.2

—

3.5

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3034274) Bile acid [Moles/volume] in Serum --fasting

0.00

0.0

1.8

—

3.9

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.2

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(3013707) Erythrocyte sedimentation rate by Westergren method

104

0.91

0.00

7.5

3.9

mm/h

20.6

9.2

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.1

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.3

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

2.6

—

9.7

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

2.0

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_FRUCT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_FRUCT.

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_FRUCT – Disorders of fructose metabolism

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_FRUCT
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	E741
HD_ICD_9	2712
HD_ICD_8	27180
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E741
COD_ICD_9	2712
COD_ICD_8	27180
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

Disorders of fructose metabolism

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