Risteys · E4_IODGOITRE

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 — E01 Hospital discharge: excluded ICD-10 — E01.8 Cause of death: ICD-10 — E01 Cause of death: excluded ICD-10 — E01.8 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	352	252	94
Only index persons	293	222	71
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	57.83	57.85	56.58
Only index persons	53.36	55.22	47.56

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	42	32	10
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	54.59	55.11	52.94

-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

(3020891) Body temperature

6.90

2.44

2.4

3.5

—

(3000991) Gas panel - Venous blood

3.02

1.66

1.7

10.6

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.00

1.49

1.2

—

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

2.74

1.35

1.5

1.7

—

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

107

1.99

1.25

5.0

2.9

—

(3012544) pH of Venous blood

2.29

1.23

3.6

6.0

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

2.69

1.18

3.2

3.3

32.6

18.7

u/ml

—

(3019060) Gas panel - Arterial blood

2.56

1.12

1.6

4.7

—

(3012516) Albumin [Mass/volume] in Urine

1.89

1.00

6.9

3.0

40.2

21.0

mg/l

—

(40761535) Cells panel - Urine sediment

2.42

0.98

5.0

3.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

1.80

0.92

8.5

3.8

7.5

4.1

mg/mmol

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.96

0.91

2.8

2.5

12.6

13.1

umol/l

—

(1761868) Lipid panel - Serum or Plasma

110

1.73

0.85

4.4

3.3

—

(3000330) Specific gravity of Urine by Test strip

1.89

0.68

4.8

5.6

—

(3044640) Blood type and Crossmatch panel - Blood

118

1.57

0.63

2.4

2.2

—

(3032080) INR in Blood by Coagulation assay

137

1.55

0.62

3.2

9.7

1.4

1.3

inr

—

(3000494) Fungus identified in Specimen by Culture

1.72

0.58

1.7

1.4

—

(36304419) Bacteria [Presence] in Urine

1.60

0.57

4.8

2.9

—

(3042936) Bacteria identified in Isolate by Culture

1.62

0.51

2.7

2.3

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

1.62

0.51

2.1

2.2

2.5

2.3

g/l

—

(3022096) Basophils/100 leukocytes in Blood

152

1.46

0.49

10.1

5.3

0.7

0.06

137

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

0.59

0.49

1.3

—

(42870588) Differential panel, method unspecified - Blood

106

1.48

0.47

9.9

5.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

317

1.62

0.47

15.7

14.4

38.1

39.2

0.20

225

(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

0.41

0.0

1.8

—

(3018010) Neutrophils/100 leukocytes in Blood

156

1.40

0.41

8.5

5.2

63.5

56.6

1.26

145

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

186

1.38

0.40

5.2

6.8

8.2

10.3

umol/l

1.36

176

(3006504) Eosinophils/100 leukocytes in Blood

157

1.38

0.39

9.9

5.3

3.3

3.0

0.15

145

(3003458) Phosphate [Moles/volume] in Serum or Plasma

1.54

0.38

11.3

7.9

1.1

mmol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.50

0.37

1.2

1.6

—

(3019069) Monocytes/100 leukocytes in Blood

158

1.37

0.37

10.2

5.6

9.3

8.2

0.62

146

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.46

0.37

2.3

2.4

25.3

22.8

—

(3013707) Erythrocyte sedimentation rate by Westergren method

259

1.39

0.36

3.3

3.9

11.2

12.0

mm/h

0.19

231

(3013512) EKG study

102

1.40

0.35

4.5

3.4

—

(3002030) Lymphocytes/100 leukocytes in Blood

160

1.34

0.34

10.8

5.4

23.2

27.9

1.21

146

(3003338) MCHC [Mass/volume]

303

1.41

0.33

20.4

17.6

328.6

331.3

g/l

0.91

303

(40758558) Short blood count panel - Blood

1.39

0.29

10.6

7.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

243

1.31

0.28

6.3

5.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

103

0.72

0.24

6.4

3.9

—

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

1.32

0.24

1.4

1.7

—

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

1.22

0.22

3.4

2.8

—

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

0.00

0.21

0.0

1.7

—

(4094501)

0.00

0.21

0.0

1.0

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

0.00

0.21

0.0

2.6

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.21

0.0

2.2

—

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

0.00

0.21

0.0

1.4

—

(3002256) Pathology report gross observation

1.29

0.21

1.0

1.3

—

(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

878.5

—

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

0.00

0.21

0.0

1.1

—

328.8

—

(3016543) Leukocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.0

—

3.6

—

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

0.00

0.20

0.0

1.4

—

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

1.18

0.20

3.2

1.9

—

(40761511) CBC panel - Blood by Automated count

354

1.38

0.18

16.3

13.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.14

0.16

3.4

3.9

—

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

1.25

0.15

2.9

2.1

—

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

117

0.81

0.15

2.4

3.4

38.5

28.7

u/l

—

112

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

316

1.21

0.15

8.9

5.7

42.7

39.5

mmol/mol

0.83

300

(3044889) 12 lead EKG panel

232

1.19

0.15

4.0

3.6

—

(3026008) Bacteria identified in Urine by Culture

122

0.87

0.08

3.9

3.2

—

(3023368) Bacteria identified in Blood by Culture

1.07

0.07

3.2

—

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

141

0.89

0.06

8.4

4.2

—

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

169

1.11

0.06

4.6

4.3

—

(3015736) pH of Urine

144

1.06

0.01

7.0

3.8

—

(40768804) Tissue Pathology biopsy report

151

0.99

0.00

1.8

2.3

—

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

124

0.95

0.00

2.9

1.9

99.8

99.2

pmol/l

—

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

202

0.98

0.00

3.6

3.1

—

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

0.92

0.00

1.2

1.3

—

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

1.03

0.00

7.8

3.6

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

0.98

0.00

1.2

1.4

—

24.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.1

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.1

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.2

—

32.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.8

—

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

0.00

0.0

1.1

—

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

0.00

0.0

11.0

—

54.0

—

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

0.00

0.0

1.2

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.3

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.3

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

3.1

—

90.8

—

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

0.00

0.0

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.97

0.00

1.9

2.2

0.9

1.2

mg/l

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma

0.00

0.0

3.8

—

20.8

—

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

0.00

0.0

1.2

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.2

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

0.95

0.00

2.4

1.8

81.0

141.9

u/l

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

1.0

—

(44790048)

0.00

0.0

1.6

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

1.6

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

1.3

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(44790047)

0.00

0.0

1.6

—

(44790049)

0.00

0.0

1.6

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

0.0

1.4

—

(44806118)

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

55.6

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_IODGOITRE and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_IODGOITRE	1.518 [1.02, 2.26]	0.04
Birth year	0.999 [0.99, 1.01]	0.858

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 232 females with E4_IODGOITRE died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_IODGOITRE.

N-year risk	Females	Males
1	0.175%	No data
5	1.058%	No data
10	2.718%	No data
15	5.199%	No data
20	8.893%	No data

Relationships between endpoints

↥

Index endpoint: E4_IODGOITRE – Iodine-deficiency-related goitre

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_IODGOITRE
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	E01
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL	E018
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E01
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL	E018
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

Iodine-deficiency-related goitre

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