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 — E03.4 Hospital discharge: ICD-9 — 2448B Cause of death: ICD-10 — E03.4 Cause of death: ICD-9 — 2448B 2 out of 7 registries used, show all original rules.	51
4. Check minimum number of events None	51
5. Include endpoints None	51
6. Filter based on genotype QC (FinnGen only)	51

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	551	413	132
Only index persons	364	274	90
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	64.16	64.40	63.12
Only index persons	55.98	56.10	55.62

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	51	44	7
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	55.13	53.86	63.12

-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

(3012516) Albumin [Mass/volume] in Urine

3.09

3.22

3.1

2.9

4586.8

25.9

mg/l

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

3.42

2.78

1.7

1.3

1.2

0.49

(3020682) Albumin/Creatinine [Ratio] in Urine

2.81

2.75

3.5

3.6

30.1

4.0

mg/mmol

—

(3019225) pH of Specimen

3.42

2.28

3.2

2.8

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

6.01

2.26

1.4

1.0

—

(42870588) Differential panel, method unspecified - Blood

118

2.33

2.13

7.2

5.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.95

2.06

1.2

1.4

—

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

3.08

1.72

1.7

1.2

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.10

1.55

2.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.10

1.55

5.5

2.7

1.3

1.5

—

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

2.45

1.46

1.8

1.4

—

(36660697) Celiac disease serology panel - Serum

2.63

1.45

1.3

1.0

—

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

153

1.92

1.40

2.2

1.9

90.3

93.0

pmol/l

0.11

(3012095) Magnesium [Moles/volume] in Serum or Plasma

2.27

1.40

2.5

0.8

mmol/l

0.07

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

136

1.93

1.38

2.4

4.1

65.2

63.8

ng/l

0.01

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

145

1.91

1.37

6.1

4.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.00

1.29

4.2

5.2

—

(3023520) Reticulocytes [#/volume] in Blood

2.58

1.28

2.3

1.5

83.4

78.8

e9/l

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

2.58

1.28

3.8

3.3

124.0

125.8

g/l

—

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

2.66

1.18

4.8

1.6

—

(3042936) Bacteria identified in Isolate by Culture

2.06

1.13

1.9

2.2

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

2.37

1.13

5.3

3.2

5.7

kpa

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

210

1.74

1.09

7.0

4.6

6.6

mmol/l

0.10

194

(3012544) pH of Venous blood

2.22

1.08

5.3

3.2

—

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

102

1.83

1.07

7.2

2.5

58.1

54.0

u/l

0.21

(3000330) Specific gravity of Urine by Test strip

2.41

1.06

2.6

5.3

—

(3025159) Blasts/100 leukocytes in Blood

2.41

1.06

5.0

9.3

—

0.0

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.41

1.06

7.0

3.7

50.1

37.9

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

2.41

1.06

4.2

3.0

23.2

24.7

mmol/l

—

(40768797) Stomach Pathology biopsy report

1.93

1.01

1.2

—

(3013512) EKG study

1.75

0.91

4.5

4.0

—

(3024354) Oxygen [Partial pressure] in Venous blood

2.13

0.90

6.0

3.1

4.4

3.7

kpa

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.81

0.0

1.1

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.30

0.78

5.0

8.9

—

0.5

—

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

2.30

0.78

2.6

2.3

—

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

1.73

0.72

1.6

1.1

2.1

2.4

g/l

—

(3019060) Gas panel - Arterial blood

1.94

0.70

3.4

—

(3044889) 12 lead EKG panel

240

0.67

0.63

3.7

3.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

270

1.50

0.63

4.3

4.5

—

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

0.00

0.61

0.0

1.5

—

(4010399)

0.00

0.61

0.0

1.5

—

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

366

1.61

0.60

23.2

16.6

140.1

139.5

mmol/l

1.66

354

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

367

1.60

0.58

23.2

16.6

3.9

mmol/l

0.18

354

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

1.70

0.58

4.0

8.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.64

0.51

1.3

1.7

—

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

1.50

0.47

1.9

1.6

0.6

1.0

mg/l

—

(36304419) Bacteria [Presence] in Urine

111

0.67

0.43

4.9

3.0

—

(3002385) Erythrocyte distribution width [Ratio]

318

0.74

0.43

19.9

17.4

14.4

13.9

0.85

311

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

0.00

0.42

0.0

3.3

—

64.2

—

(40761535) Cells panel - Urine sediment

1.52

0.41

6.0

2.8

—

(40768443) Skin Pathology biopsy report

0.00

0.41

0.0

1.1

—

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

1.42

0.41

2.0

1.5

—

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

1.37

0.40

1.0

1.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.48

0.37

1.3

1.4

—

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

0.66

0.37

3.7

2.7

7.7

4.9

e6/l

—

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

265

0.76

0.37

5.1

4.7

—

11141.2

—

(3002256) Pathology report gross observation

1.41

0.36

1.2

1.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

333

0.76

0.35

28.2

15.2

36.7

38.5

0.29

253

(3023368) Bacteria identified in Blood by Culture

102

1.37

0.34

5.0

4.2

—

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

1.41

0.33

2.2

1.8

—

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

1.37

0.32

1.7

1.6

—

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

382

1.37

0.31

23.7

16.8

74.9

72.0

umol/l

0.40

382

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

250

0.79

0.29

3.0

3.4

—

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

1.33

0.27

2.2

2.1

—

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

1.22

0.26

1.9

1.6

—

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

1.39

0.24

1.4

2.0

—

(3000494) Fungus identified in Specimen by Culture

1.35

0.24

2.6

1.2

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.28

0.23

2.4

2.2

—

(40768804) Tissue Pathology biopsy report

166

1.23

0.22

2.3

2.0

—

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

1.28

0.22

1.9

2.5

40458.6

10172.0

umol/l

0.33

(40768795) Lymph node Pathology biopsy report

0.00

0.21

0.0

1.0

—

(1616796) Gas panel - Central venous blood

0.00

0.21

0.0

1.5

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.21

0.0

1.4

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

(3037121) Protein [Mass/volume] in Urine

0.00

0.20

0.0

2.1

—

0.1

—

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

0.00

0.20

0.0

1.2

—

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

110

1.24

0.19

2.2

2.6

21.5

30.0

u/l

1.52

101

(3041096) Erythrocytes [Presence] in Urine by Automated

110

1.24

0.19

4.5

4.1

—

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

179

1.19

0.18

4.1

3.7

—

(3044640) Blood type and Crossmatch panel - Blood

132

1.19

0.15

2.5

2.2

—

(40758558) Short blood count panel - Blood

0.79

0.15

10.8

7.8

—

(3015736) pH of Urine

155

1.15

0.11

6.4

3.9

—

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

1.15

0.09

2.2

1.7

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

1.06

0.09

4.0

1.4

28.0

30.7

—

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

1.17

0.09

8.8

3.9

—

(3026008) Bacteria identified in Urine by Culture

138

1.12

0.07

3.9

3.1

—

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

1.14

0.07

1.3

1.5

—

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

393

1.08

0.02

14.5

9.9

22.8

23.1

u/l

0.06

382

(40761511) CBC panel - Blood by Automated count

393

0.97

0.00

24.4

12.5

—

(1761868) Lipid panel - Serum or Plasma

135

1.05

0.00

3.0

2.7

—

(3007461) Platelets [#/volume] in Blood

412

0.98

0.00

34.7

20.7

275.5

255.3

e9/l

0.91

403

(3026361) Erythrocytes [#/volume] in Blood

412

0.98

0.00

35.0

20.7

4.3

4.4

e12/l

0.44

396

(3000963) Hemoglobin [Mass/volume] in Blood

412

0.98

0.00

35.1

20.8

127.9

131.5

g/l

0.96

405

(3035941) MCH [Entitic mass]

412

0.98

0.00

34.5

20.6

29.8

30.2

0.78

405

(3010813) Leukocytes [#/volume] in Blood

412

0.98

0.00

34.6

20.7

6.7

6.6

e9/l

0.13

398

(3024731) MCV [Entitic volume]

412

0.98

0.00

34.5

20.6

90.7

91.3

0.43

405

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

132

0.98

0.00

5.5

3.2

—

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

198

1.02

0.00

4.8

5.3

13.2

11.4

umol/l

0.21

184

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

5.0

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

2.8

—

4.9

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.6

—

89.5

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

1.2

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.4

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

2.2

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

0.0

1.0

—

12.8

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.9

—

10.5

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

11.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.0

—

31.8

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.2

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.3

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.1

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

2.8

—

9.5

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.7

—

60.1

—

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

0.00

0.0

1.2

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

2.1

—

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

0.00

0.0

1.0

—

(3026782) Osmolality of Urine

0.97

0.00

1.9

3.2

661.3

532.6

mosm/kgh2o

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.1

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.96

0.00

1.3

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

(3010421) pH of Blood

0.00

0.0

2.8

—

7.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_ATROTHY and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_ATROTHY	1.365 [0.88, 2.11]	0.16
Birth year	1.0 [0.99, 1.01]	0.991

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 182 females with E4_ATROTHY died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_ATROTHY.

N-year risk	Females	Males
1	0.137%	No data
5	0.83%	No data
10	1.972%	No data
15	4.112%	No data
20	7.823%	No data

Relationships between endpoints

↥

Index endpoint: E4_ATROTHY – Atrophy of thyroid (acquired)

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_ATROTHY
CONTROL_EXCLUDE	E4_THYROID
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E034
HD_ICD_9	2448B
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	E034
COD_ICD_9	2448B
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

Atrophy of thyroid (acquired)

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