Risteys · E4_AMINONAS

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — E72.8, E72.9 Hospital discharge: ICD-9 — 2707 Cause of death: ICD-10 — E72.8, E72.9 Cause of death: ICD-9 — 2707 2 out of 7 registries used, show all original rules.	48
4. Check minimum number of events None	48
5. Include endpoints None	48
6. Filter based on genotype QC (FinnGen only)	43

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	457	216	237
Only index persons	323	153	170
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	58.69	61.68	55.77
Only index persons	59.92	63.72	56.50

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	43	20	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	59.46	61.08	58.05

-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

↥

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

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

5.65

6.93

3.2

1.6

2151.69

1253.86

nmol/l

0.96

(3023183) Ammonium ion [Moles/volume] in Plasma

10.11

3.93

11.0

1.4

39.14

33.25

umol/l

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

4.88

3.59

6.1

22.67

23.89

mmol/l

0.49

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

127

3.24

3.56

2.8

2.0

87.71

99.63

pmol/l

0.34

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

8.06

3.51

2.4

2.0

278.86

649.40

ug/l

—

(3023368) Bacteria identified in Blood by Culture

100

2.83

2.78

7.8

4.0

—

(3000991) Gas panel - Venous blood

3.62

2.73

15.9

10.5

—

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

4.08

2.66

1.7

1.4

—

(3010421) pH of Blood

6.11

2.63

12.0

2.1

7.41

7.44

—

(40767503) Oxygen content in Capillary blood by calculation

7.86

2.61

2.4

3.7

14.62

16.30

—

(3027315) Oxygen [Partial pressure] in Blood

7.86

2.61

11.8

2.1

9.24

9.50

kpa

—

(3013290) Carbon dioxide [Partial pressure] in Blood

7.86

2.61

11.8

2.1

4.82

4.51

kpa

—

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

3.00

2.48

1.6

1.9

—

(3022313) Gas panel - Capillary blood

3.77

2.47

2.8

14.1

—

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

3.50

2.30

10.6

15.0

24.94

25.28

mmol/l

—

(3035933) Granulocytes/Leukocytes in Blood

6.10

2.27

1.2

2.3

58.20

52.44

—

(3009343) pH of Capillary blood

3.10

2.18

3.2

12.9

7.40

7.41

—

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

2.76

2.16

2.6

1.9

528.54

423.39

pmol/l

0.43

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

3.52

2.13

14.0

4.3

—

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

5.48

2.13

1.2

1.1

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

2.93

2.04

3.2

11.9

5.02

5.18

kpa

—

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

4.97

1.99

1.0

1.4

—

(3044290) Cell count panel - Cerebral spinal fluid

4.97

1.99

1.2

1.1

—

(3006315) Basophils [#/volume] in Blood

181

2.27

1.81

5.2

6.5

0.04

e9/l

0.07

163

(3001604) Monocytes [#/volume] in Blood

181

2.27

1.81

5.2

6.4

0.69

0.58

e9/l

1.30

164

(3042936) Bacteria identified in Isolate by Culture

2.57

1.81

3.2

2.5

—

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

195

2.20

1.66

11.3

5.9

14.75

13.74

umol/l

0.07

186

(3019198) Lymphocytes [#/volume] in Blood

187

2.15

1.60

5.2

6.4

2.16

1.75

e9/l

1.28

174

(3013115) Eosinophils [#/volume] in Blood

187

2.15

1.60

5.9

6.6

0.25

0.20

e9/l

0.79

173

(3015377) Calcium [Moles/volume] in Serum or Plasma

115

2.15

1.59

4.6

4.1

2.31

2.35

mmol/l

0.75

102

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

2.88

1.59

1.9

1.8

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

2.56

1.51

13.8

6.5

—

(42870588) Differential panel, method unspecified - Blood

127

2.05

1.46

6.5

6.1

—

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

2.37

1.40

1.4

1.8

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

2.35

1.34

11.7

7.1

103.50

104.12

mmol/l

—

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

2.51

1.23

4.0

8.7

24.60

24.67

mmol/l

—

(3019069) Monocytes/Leukocytes in Blood

173

1.85

1.14

6.9

6.5

9.58

9.07

0.44

165

(3007853) Bacteria identified in Skin by Aerobe culture

2.25

1.14

2.6

2.1

—

(3025941) Bacteria identified in Stool by Culture

2.55

1.12

1.6

1.5

—

(3006504) Eosinophils/Leukocytes in Blood

174

1.83

1.11

6.3

6.4

3.12

2.95

0.14

165

(3022096) Basophils/Leukocytes in Blood

174

1.83

1.11

7.3

6.5

0.56

0.62

0.24

166

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

265

1.98

1.10

13.7

7.4

94.70

87.98

u/l

0.26

249

(40768797) Stomach Pathology biopsy report

2.12

1.02

1.1

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.95

1.01

4.9

5.7

—

(3028626) Oxygen [Partial pressure] in Capillary blood

2.41

0.98

3.2

16.6

8.37

9.79

kpa

—

(40761536) Microorganisms panel - Urine sediment

2.23

0.93

11.5

4.4

—

(3026782) Osmolality of Urine

1.89

0.93

8.8

2.9

470.33

544.19

mosm/kgh2o

0.95

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

1.98

0.93

2.5

2.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

223

1.70

0.86

7.1

5.1

—

(3044640) Blood type and Crossmatch panel - Blood

110

1.71

0.84

4.5

2.2

—

(3015736) pH of Urine

138

1.66

0.81

5.1

4.4

6.22

6.19

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.00

0.80

0.0

1.6

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

1.77

0.78

1.0

1.4

1.23

3.26

u/ml

—

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

131

1.63

0.76

8.4

3.7

—

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

1.84

0.74

1.4

1.9

—

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

100

0.54

0.73

2.2

1.4

—

(3022145) Colonoscopy Study observation

1.75

0.63

1.4

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.62

0.0

3.8

—

1.02

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.62

0.0

1.2

—

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

205

1.51

0.59

7.7

10.3

4.04

3.91

e9/l

0.13

185

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

1.59

0.59

8.3

3.2

3.92

5.48

e6/l

0.42

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

1.67

0.57

3.3

1.7

—

(3018010) Neutrophils/Leukocytes in Blood

178

1.47

0.54

8.0

6.1

53.61

57.33

0.62

170

(3029937) Albumin [Presence] in Urine by Test strip

103

1.53

0.54

8.8

5.2

0.00

estimate

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

104

1.51

0.51

10.3

3.8

41.36

30.26

u/l

0.55

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

0.00

0.42

0.0

1.9

—

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

0.00

0.42

0.0

2.2

—

(3008898) HLA-B27 [Presence]

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

2.3

—

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

1.48

0.41

19.8

7.9

109.60

122.57

g/l

—

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

195

1.38

0.40

3.8

3.0

—

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

1.38

0.35

3.3

1.8

—

(40761511) CBC panel - Blood by Automated count

334

1.43

0.34

39.4

14.9

—

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

173

1.29

0.28

7.2

4.9

0.00

estimate

—

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

175

1.26

0.25

7.2

5.0

0.00

estimate

—

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

337

1.37

0.24

37.2

16.2

30.54

24.82

mg/l

0.36

276

(40758558) Short blood count panel - Blood

109

0.78

0.23

5.8

5.3

—

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

176

1.25

0.23

7.2

4.9

0.00

estimate

—

(3002256) Pathology report gross observation

1.25

0.23

1.0

1.2

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.5

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

32.20

—

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

0.00

0.21

0.0

4.3

—

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

0.00

0.21

0.0

1.3

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

2.0

—

0.00

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

1.9

—

1.92

—

(3026008) Bacteria identified in Urine by Culture

110

1.26

0.20

4.5

3.3

—

(3032080) INR in Blood by Coagulation assay

159

1.22

0.19

53.7

15.8

1.44

1.31

inr

0.36

133

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

1.19

0.17

4.2

2.0

—

(3013512) EKG study

122

1.22

0.16

4.6

3.5

—

(40768804) Tissue Pathology biopsy report

122

1.22

0.16

1.2

1.9

—

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

354

1.28

0.16

40.3

19.9

116.43

75.39

umol/l

1.20

346

(3000494) Fungus identified in Specimen by Culture

1.13

0.10

2.0

1.4

—

(1761868) Lipid panel - Serum or Plasma

1.18

0.10

5.0

3.4

—

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

0.81

0.09

1.2

1.6

—

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

350

1.16

0.07

19.4

11.0

22.72

24.51

u/l

0.51

343

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

278

1.13

0.07

32.0

20.4

327.17

332.22

g/l

2.54

278

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

149

1.12

0.06

7.3

2.8

—

estimate

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.3

—

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

0.00

0.0

1.6

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.9

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

4.7

—

24.71

—

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

0.00

0.0

1.6

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

425.16

—

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

0.00

-0.00

0.0

4.6

—

107.20

—

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

0.00

-0.00

0.0

4.6

—

3.96

—

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

0.00

-0.00

0.0

4.6

—

1.22

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.4

—

(3047181) Lactate [Moles/volume] in Blood

0.00

-0.00

0.0

7.6

—

1.12

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.6

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.6

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.0

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

-0.00

0.0

2.3

—

11.50

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

1.38

—

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

1.00

-0.00

2.3

3.5

—

0.40

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

6.0

—

60.80

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

5.3

—

0.50

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

-0.00

0.0

2.0

—

17.00

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

3.3

—

19.69

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

-0.00

0.0

1.0

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.0

—

12.62

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

0.90

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

-0.00

0.0

1.0

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

1.2

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

-0.00

0.0

1.2

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.6

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.5

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

1.4

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

-0.00

0.0

1.3

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

-0.00

0.0

1.3

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_AMINONAS and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_AMINONAS	1.813 [1.19, 2.77]	0.006
Birth year	0.997 [0.99, 1.01]	0.458

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 158 females with E4_AMINONAS died.

Males

Parameter	HR [95% CI]	p-value
E4_AMINONAS	3.184 [1.91, 5.31]	< 0.001
Birth year	0.989 [0.98, 1.0]	0.024

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 174 males with E4_AMINONAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_AMINONAS.

N-year risk	Females	Males
1	0.178%	0.628%
5	1.062%	3.808%
10	2.809%	9.333%
15	5.638%	17.533%
20	9.606%	28.165%

Relationships between endpoints

↥

Index endpoint: E4_AMINONAS – Disorder of amino-acid metabolism, other/unspecified

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_AMINONAS
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	E72[8-9]
HD_ICD_9	2707
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	E72[8-9]
COD_ICD_9	2707
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

Disorder of amino-acid metabolism, other/unspecified

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints