Risteys · E4_AMINONAS

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 — 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.	42
4. Check minimum number of events None	42
5. Include endpoints None	42
6. Filter based on genotype QC (FinnGen only)	42

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	42	20	22
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	58.46	61.08	56.09

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

5.55

6.63

3.2

1.7

2151.7

1257.5

nmol/l

0.95

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

11.37

3.61

10.2

1.3

41.7

30.0

umol/l

—

(3000991) Gas panel - Venous blood

4.55

3.60

16.0

4.7

—

(3023368) Bacteria identified in Blood by Culture

3.19

3.17

8.4

3.7

—

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

7.55

2.97

2.7

2.1

319.7

700.0

ug/l

—

(3022313) Gas panel - Capillary blood

5.22

2.96

2.8

5.8

—

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

5.22

2.96

14.0

3.9

—

(3027315) Oxygen [Partial pressure] in Blood

9.23

2.82

11.8

1.0

9.2

8.9

kpa

—

(3013290) Carbon dioxide [Partial pressure] in Blood

9.23

2.82

11.8

1.0

4.8

4.5

kpa

—

(3001604) Monocytes [#/volume] in Blood

151

2.89

2.76

4.2

5.0

0.7

0.6

e9/l

0.85

133

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

3.33

2.73

1.5

1.7

—

(3006315) Basophils [#/volume] in Blood

152

2.87

2.71

4.2

5.1

0.0

e9/l

0.15

135

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

111

2.78

2.63

2.9

1.8

92.0

105.2

pmol/l

0.35

(3044290) Cell count panel - Cerebral spinal fluid

6.90

2.44

1.2

1.0

—

(3013115) Eosinophils [#/volume] in Blood

158

2.69

2.43

4.9

5.2

0.2

e9/l

0.19

144

(3019198) Lymphocytes [#/volume] in Blood

158

2.69

2.43

4.2

5.1

2.0

1.8

e9/l

0.73

141

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

3.78

2.07

1.9

1.4

—

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

3.78

2.07

12.9

7.2

25.4

24.8

mmol/l

—

(3042936) Bacteria identified in Isolate by Culture

2.88

2.05

3.3

2.5

—

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

2.77

2.03

2.6

1.8

458.8

419.1

pmol/l

0.16

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

3.44

1.89

1.9

1.8

—

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

171

2.37

1.89

11.6

4.8

15.4

14.2

umol/l

0.08

161

(3022096) Basophils/100 leukocytes in Blood

144

2.32

1.86

6.1

5.1

0.6

0.00

136

(3019069) Monocytes/100 leukocytes in Blood

146

2.27

1.78

6.1

5.4

9.5

8.8

0.58

138

(3006504) Eosinophils/100 leukocytes in Blood

146

2.27

1.78

5.4

5.2

2.7

2.9

0.17

137

(40760892) CBC W Ordered Manual Differential panel - Blood

2.50

1.69

4.9

4.7

—

(42870588) Differential panel, method unspecified - Blood

108

2.17

1.55

6.1

5.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.66

1.38

2.6

1.9

—

(3015736) pH of Urine

104

2.07

1.37

5.2

3.8

—

(3018418) pH of Serum or Plasma

2.09

1.29

17.1

3.1

7.4

—

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

2.36

1.27

14.8

6.6

—

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

2.84

1.25

4.2

5.3

25.5

25.3

mmol/l

—

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

117

1.94

1.20

7.9

4.0

111.8

69.1

ng/l

0.19

(3025941) Bacteria identified in Stool by Culture

2.69

1.18

1.6

1.5

—

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

2.34

1.12

1.4

1.7

—

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

2.34

1.12

1.4

1.7

—

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

2.00

1.06

8.9

2.0

4.2

5.3

e6/l

0.27

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

2.01

1.05

2.7

2.0

—

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

2.01

1.02

3.5

4.0

—

(3032080) INR in Blood by Coagulation assay

114

1.83

1.00

25.3

7.5

1.1

1.2

inr

—

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

179

1.80

1.00

6.8

8.5

4.0

e9/l

0.00

159

(40761536) Microorganisms panel - Urine sediment

2.42

0.98

11.5

3.7

—

(3026782) Osmolality of Urine

1.97

0.97

8.8

2.4

460.1

556.2

mosm/kgh2o

1.26

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

2.33

0.96

3.3

1.7

—

(36304419) Bacteria [Presence] in Urine

1.83

0.93

8.6

3.0

—

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

1.81

0.90

9.5

3.3

41.6

30.4

u/l

0.55

(3044640) Blood type and Crossmatch panel - Blood

1.81

0.90

4.5

1.8

—

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

146

1.71

0.86

19.9

4.7

1.2

mmol/l

0.33

127

(36660697) Celiac disease serology panel - Serum

0.00

0.82

0.0

1.3

—

(3022621) pH of Urine by Test strip

0.00

0.81

0.0

3.4

—

(4010399)

0.00

0.80

0.0

1.4

—

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

123

1.64

0.74

8.1

3.0

—

(3009542) Hematocrit [Volume Fraction] of Blood

263

1.68

0.69

25.0

13.6

38.1

39.5

0.37

190

(21494755) Public health laboratory ask at order entry panel

0.00

0.62

0.0

1.3

—

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

1.83

0.61

3.3

1.8

—

(3033658) Prothrombin time (PT) actual/Normal

1.63

0.58

10.0

2.9

66.6

90.1

1.28

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

0.57

0.52

2.4

1.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

201

1.45

0.49

7.5

4.5

—

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

307

1.56

0.45

35.5

13.1

29.2

23.1

mg/l

0.39

237

(40768797) Stomach Pathology biopsy report

1.69

0.45

1.2

—

(3002256) Pathology report gross observation

1.58

0.43

1.0

1.1

—

(3008898) HLA-B27 [Presence]

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

2.3

—

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

1.44

0.42

3.9

1.6

—

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

0.00

0.41

0.0

2.2

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.41

0.0

3.8

—

(3000494) Fungus identified in Specimen by Culture

1.44

0.39

2.0

1.3

—

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

139

1.37

0.37

8.2

5.7

0.0

estimate

—

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

178

1.36

0.37

4.0

2.9

—

(40761511) CBC panel - Blood by Automated count

313

1.45

0.34

40.0

12.3

—

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

131

1.36

0.34

11.7

3.7

—

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

141

1.35

0.33

7.3

4.0

0.0

estimate

—

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

143

1.32

0.30

7.3

4.1

0.0

estimate

—

(3019150) Specific gravity of Urine by Refractometry

1.28

0.29

5.9

4.4

—

1.0

—

(1761868) Lipid panel - Serum or Plasma

1.35

0.25

4.8

2.9

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

2.7

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

5.3

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.5

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.21

0.0

2.0

—

7.5

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

2.0

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.21

0.0

2.0

—

3.4

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

4.0

—

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

0.00

0.20

0.0

1.3

—

(3026008) Bacteria identified in Urine by Culture

102

1.25

0.17

4.6

2.9

—

(3013512) EKG study

1.25

0.16

5.2

3.7

—

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

312

1.27

0.15

45.8

14.1

139.6

mmol/l

0.06

304

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

312

1.27

0.15

47.3

14.2

4.1

4.0

mmol/l

0.81

303

(3044889) 12 lead EKG panel

192

1.19

0.15

5.2

3.7

—

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

107

1.17

0.10

9.0

4.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.85

0.08

12.1

3.8

—

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

327

1.21

0.07

17.8

9.0

23.3

24.5

u/l

0.26

319

(3003338) MCHC [Mass/volume]

260

1.11

0.05

31.1

16.5

326.8

332.3

g/l

2.84

260

(40768804) Tissue Pathology biopsy report

108

1.03

0.00

1.3

1.8

—

(40758558) Short blood count panel - Blood

1.02

0.00

5.3

4.9

—

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

0.00

0.0

4.6

—

107.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.6

—

(3000963) Hemoglobin [Mass/volume] in Blood

344

1.10

0.00

49.6

18.7

124.6

136.3

g/l

3.18

338

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

0.00

0.0

4.5

—

1.8

—

(44790048)

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

262.2

—

(3023430) Cat dander IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

1.7

—

(44790047)

0.00

0.0

1.1

—

(3035941) MCH [Entitic mass]

344

1.10

0.00

48.9

18.5

30.0

30.1

0.06

339

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.6

—

(44806118)

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

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

0.00

0.0

4.6

—

4.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.3

—

(4094501)

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

4.6

—

24.7

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

2.3

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.1

—

(3024731) MCV [Entitic volume]

344

1.10

0.00

49.1

18.6

91.6

90.5

0.43

339

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

0.00

0.0

1.3

—

32.6

—

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

0.00

0.0

4.6

—

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

0.00

0.0

6.2

—

7.3

—

(44790049)

0.00

0.0

1.1

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

0.00

0.0

4.5

—

0.9

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

6.2

—

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.4

—

(3047181) Lactate [Moles/volume] in Blood

0.00

0.0

6.7

—

1.1

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.7

—

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

0.00

0.0

2.0

—

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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints