Risteys · E4_AMINONAS

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	43
4. Check minimum number of events None	43
5. Include endpoints None	43
6. Filter based on genotype QC (FinnGen only)	41

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	41	20	21
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	59.53	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

5.68

6.80

2.9

1.6

2151.69

1241.74

nmol/l

0.97

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

11.37

3.61

10.2

1.3

41.67

30.00

umol/l

—

(3023368) Bacteria identified in Blood by Culture

3.19

3.17

8.4

3.7

—

(3000991) Gas panel - Venous blood

4.52

3.13

16.0

4.1

—

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

7.55

2.97

2.7

2.1

319.67

700.00

ug/l

—

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

5.22

2.96

14.0

3.9

—

(3022313) Gas panel - Capillary blood

4.94

2.84

2.8

5.2

—

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

3.42

2.83

1.5

1.7

—

(3013290) Carbon dioxide [Partial pressure] in Blood

9.23

2.82

11.8

1.0

4.82

4.53

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

9.23

2.82

11.8

1.0

9.24

8.93

kpa

—

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

109

2.85

2.75

2.9

1.8

92.03

105.24

pmol/l

0.36

(3006315) Basophils [#/volume] in Blood

152

2.87

2.71

4.2

5.3

0.04

0.03

e9/l

0.14

134

(3001604) Monocytes [#/volume] in Blood

152

2.87

2.71

4.2

5.2

0.66

0.57

e9/l

0.86

134

(3019198) Lymphocytes [#/volume] in Blood

159

2.67

2.38

4.2

5.3

2.02

1.77

e9/l

0.67

146

(3013115) Eosinophils [#/volume] in Blood

159

2.67

2.38

4.9

5.5

0.21

0.20

e9/l

0.20

145

(3044290) Cell count panel - Cerebral spinal fluid

6.13

2.28

1.2

1.1

—

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

2.96

2.27

2.6

1.8

458.83

403.58

pmol/l

0.24

(40760892) CBC W Ordered Manual Differential panel - Blood

135

2.56

2.26

7.3

6.5

—

(3042936) Bacteria identified in Isolate by Culture

2.96

2.14

3.3

2.5

—

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

3.78

2.07

1.9

—

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

3.28

1.98

3.5

4.4

5.16

5.33

kpa

—

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

3.60

1.98

12.9

7.2

25.36

24.79

mmol/l

—

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

3.60

1.98

1.9

1.4

—

(3022096) Basophils/100 leukocytes in Blood

144

2.32

1.86

6.1

5.3

0.58

0.59

0.01

135

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

172

2.34

1.85

11.6

4.8

15.57

14.15

umol/l

0.09

162

(3019069) Monocytes/100 leukocytes in Blood

147

2.25

1.74

6.1

5.6

9.48

8.82

0.54

138

(3006504) Eosinophils/100 leukocytes in Blood

147

2.25

1.74

5.4

2.73

2.91

0.17

137

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

2.66

1.38

13.9

4.1

103.00

103.82

mmol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.66

1.38

2.6

1.9

—

(3018418) pH of Serum or Plasma

2.16

1.38

17.1

3.2

7.40

7.41

—

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

115

1.99

1.27

7.9

3.9

111.83

67.46

ng/l

0.20

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

2.36

1.27

14.8

6.6

—

(3025941) Bacteria identified in Stool by Culture

2.84

1.25

1.6

1.5

—

(40761536) Microorganisms panel - Urine sediment

2.52

1.23

11.5

3.8

—

(3015736) pH of Urine

108

1.96

1.21

5.2

3.9

—

5.60

—

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

2.11

1.20

8.9

2.0

4.19

5.48

e6/l

0.30

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

2.69

1.18

4.2

4.9

25.52

25.44

mmol/l

—

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

2.34

1.12

1.4

1.7

—

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

2.34

1.12

1.4

1.7

—

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

2.01

1.05

2.7

2.0

—

(3022621) pH of Urine by Test strip

0.00

1.02

0.0

3.2

—

(3026782) Osmolality of Urine

2.01

1.02

8.8

2.5

460.09

556.37

mosm/kgh2o

1.26

(36304419) Bacteria [Presence] in Urine

1.89

1.00

8.6

2.5

—

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

179

1.80

1.00

6.7

8.7

4.02

4.00

e9/l

0.02

157

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

1.97

0.97

3.5

3.9

—

(3044640) Blood type and Crossmatch panel - Blood

1.86

0.97

4.4

1.9

—

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

2.24

0.93

3.3

1.7

—

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

144

1.74

0.92

19.9

4.7

1.21

1.22

mmol/l

0.40

126

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

1.81

0.90

9.5

3.4

41.57

30.23

u/l

0.56

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

119

1.72

0.85

8.1

2.6

—

(36660697) Celiac disease serology panel - Serum

0.00

0.82

0.0

1.3

—

(4200892) Spirometry reversibility

0.00

0.80

0.0

1.4

—

(40768797) Stomach Pathology biopsy report

1.75

0.63

1.2

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.62

0.0

1.3

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.62

0.0

3.7

—

(3033658) Prothrombin time (PT) actual/Normal

1.66

0.61

10.0

3.0

66.64

89.70

1.26

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

1.78

0.60

3.3

1.8

—

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

305

1.60

0.56

35.5

13.0

29.24

23.46

mg/l

0.36

234

(3037467) Urinalysis macro (dipstick) panel - Urine

198

1.49

0.55

7.5

4.4

—

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

0.57

0.52

2.4

1.4

—

(3002256) Pathology report gross observation

1.58

0.43

1.0

1.1

—

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

1.46

0.42

3.9

1.6

—

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

0.00

0.42

0.0

2.2

—

(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

2.1

—

(3022217) INR in Platelet poor plasma by Coagulation assay

137

1.40

0.41

50.5

16.0

1.10

1.20

inr

—

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

138

1.39

0.39

8.2

5.8

0.00

estimate

—

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

129

1.39

0.38

5.8

2.3

—

(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

—

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

141

1.35

0.33

7.3

4.1

0.00

estimate

—

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

141

1.35

0.33

7.3

4.1

0.00

estimate

—

(1761868) Lipid panel - Serum or Plasma

1.39

0.29

4.8

2.9

—

(3019150) Specific gravity of Urine by Refractometry

1.28

0.29

5.9

4.4

—

1.01

—

(3000494) Fungus identified in Specimen by Culture

1.40

0.24

2.0

1.3

—

(3013512) EKG study

1.32

0.24

5.2

3.7

—

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

309

1.32

0.24

45.8

14.1

139.58

139.64

mmol/l

0.06

301

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

309

1.32

0.24

47.3

14.1

4.11

4.01

mmol/l

0.85

300

(40761511) CBC panel - Blood by Automated count

310

1.30

0.24

40.9

12.2

—

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

0.00

0.21

0.0

1.0

—

5.30

—

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

0.00

0.21

0.0

1.0

—

1.53

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

4.3

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.9

—

(3044889) 12 lead EKG panel

188

1.23

0.20

5.2

3.7

—

(3026008) Bacteria identified in Urine by Culture

101

1.26

0.19

4.7

2.9

—

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

324

1.26

0.16

17.8

9.1

23.32

24.43

u/l

0.26

316

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

105

1.20

0.13

9.0

4.5

—

(3024731) MCV [Entitic volume]

341

1.16

0.08

49.1

18.5

91.63

90.52

0.43

336

(3035941) MCH [Entitic mass]

341

1.16

0.08

48.9

18.5

30.03

30.10

0.06

336

(3041096) Erythrocytes [Presence] in Urine by Automated

0.86

0.08

12.1

3.9

—

(3000963) Hemoglobin [Mass/volume] in Blood

341

1.16

0.08

49.6

18.6

124.66

136.19

g/l

3.14

335

(3003338) MCHC [Mass/volume]

259

1.12

0.06

31.1

16.5

326.78

332.20

g/l

2.76

259

(40768804) Tissue Pathology biopsy report

109

1.01

0.00

1.3

1.8

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

6.2

—

1.48

—

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

0.00

-0.00

0.0

1.6

—

(3047181) Lactate [Moles/volume] in Blood

0.00

-0.00

0.0

7.6

—

1.12

—

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

0.00

-0.00

0.0

4.6

—

3.96

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

0.00

-0.00

0.0

4.5

—

1.83

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.6

—

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

0.00

-0.00

0.0

1.0

—

262.20

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

0.00

-0.00

0.0

4.5

—

0.90

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.4

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

1.73

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.4

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.6

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

4.6

—

107.20

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

1.1

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

2.34

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.3

—

32.57

—

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

0.00

-0.00

0.0

4.6

—

24.71

—

(40758558) Short blood count panel - Blood

1.00

-0.00

5.3

4.9

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

6.2

—

7.34

—

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

0.00

-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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints