Risteys · E4_HYPERTHY

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 — E32.0 Hospital discharge: ICD-9 — 2540 Cause of death: ICD-10 — E32.0 Cause of death: ICD-9 — 2540 2 out of 7 registries used, show all original rules.	28
4. Check minimum number of events None	28
5. Include endpoints None	28
6. Filter based on genotype QC (FinnGen only)	28

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	227	137	82
Only index persons	150	95	55
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	60.19	62.66	55.08
Only index persons	52.49	53.60	50.57

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	28	14	14
Unadjusted period prevalence (%)	0.01	0.00	0.01
Median age at first event (years)	48.20	49.87	46.52

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

(40768804) Tissue Pathology biopsy report

3.33

2.43

2.0

—

(3002256) Pathology report gross observation

4.19

1.95

1.2

1.1

—

(42870588) Differential panel, method unspecified - Blood

2.64

1.64

2.1

4.9

—

(3018010) Neutrophils/100 leukocytes in Blood

116

2.54

1.48

4.6

5.6

55.8

57.9

0.32

111

(4035726)

3.34

1.42

1.6

1.2

—

(3022096) Basophils/100 leukocytes in Blood

109

2.42

1.38

4.4

6.3

0.6

0.7

0.14

104

(3002030) Lymphocytes/100 leukocytes in Blood

119

2.44

1.35

4.6

5.8

29.3

28.5

0.12

112

(36660697) Celiac disease serology panel - Serum

2.97

1.27

1.0

1.2

—

(3006504) Eosinophils/100 leukocytes in Blood

113

2.28

1.22

4.5

5.9

3.0

2.7

0.23

107

(3019069) Monocytes/100 leukocytes in Blood

114

2.25

1.18

4.5

6.3

9.9

8.0

1.68

109

(40768797) Stomach Pathology biopsy report

2.57

1.18

1.1

—

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

2.15

1.08

1.8

pmol/l

109.9

95.8

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.54

1.08

3.0

1.3

nmol/l

309.0

336.4

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.04

0.0

1.6

—

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

2.45

0.98

4.2

1.8

27.8

27.1

—

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

2.35

0.96

3.2

1.8

g/l

2.1

2.4

—

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

2.13

0.95

1.1

1.9

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

1.99

0.90

3.5

2.6

ug/l

110.1

99.3

0.13

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

2.04

0.84

3.5

1.7

umol/l

15.0

14.5

—

(3012544) pH of Venous blood

2.12

0.75

2.4

—

(3002032) Base excess in Venous blood by calculation

2.03

0.72

2.4

2.2

mmol/l

1.0

3.5

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

1.88

0.70

3.3

2.1

mg/l

2.7

3.0

—

(3044889) 12 lead EKG panel

170

0.56

0.69

2.9

3.5

—

(3000494) Fungus identified in Specimen by Culture

1.88

0.67

1.0

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

1.80

0.66

1.7

2.3

—

(3023368) Bacteria identified in Blood by Culture

1.81

0.64

6.8

4.6

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

102

1.75

0.64

4.6

3.9

mmol/l

1.2

0.22

(36304419) Bacteria [Presence] in Urine

1.66

0.62

5.6

2.8

—

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

134

1.68

0.57

2.8

3.4

—

(3026008) Bacteria identified in Urine by Culture

1.47

0.44

7.3

2.8

—

(40768443) Skin Pathology biopsy report

0.00

0.42

0.0

1.3

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.42

0.0

3.8

—

0.1

—

(3019060) Gas panel - Arterial blood

0.00

0.41

0.0

2.6

—

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

237

0.67

0.38

20.5

15.3

mmol/l

3.9

4.0

0.46

232

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

1.48

0.35

4.2

3.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.40

0.32

8.1

3.4

—

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

149

1.36

0.24

8.4

4.0

—

92.4

—

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

0.00

0.22

0.0

2.0

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.22

0.0

1.5

—

175.6

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.21

0.0

2.3

—

1.1

—

(3013512) EKG study

1.22

0.21

5.8

3.2

—

(40758558) Short blood count panel - Blood

1.30

0.19

7.0

5.7

—

(1761868) Lipid panel - Serum or Plasma

1.23

0.11

3.0

2.9

—

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

1.23

0.11

2.8

1.5

nmol/l

990.8

1135.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.77

0.09

2.0

4.4

—

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

142

0.84

0.09

3.8

4.3

mmol/l

7.3

6.7

0.33

136

(3037467) Urinalysis macro (dipstick) panel - Urine

161

1.14

0.05

6.9

3.5

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

173

0.96

0.00

6.7

4.0

pmol/l

14.8

14.5

0.18

160

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

108

1.03

0.00

3.5

3.8

—

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

1.00

0.00

1.5

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.4

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

0.00

0.0

4.2

—

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

0.00

0.0

1.2

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.2

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

0.00

0.0

1.8

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.8

—

(3009542) Hematocrit [Volume Fraction] of Blood

206

1.08

0.00

21.3

14.4

37.1

40.7

0.66

157

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.1

—

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

0.00

0.0

1.2

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.0

1.3

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

2.8

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.6

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.8

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3009508) Creatinine [Moles/volume] in Urine

1.04

0.00

3.0

2.4

mmol/l

6.9

9.2

—

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

0.00

0.0

1.6

—

(3047181) Lactate [Moles/volume] in Blood

0.00

0.0

5.8

—

1.2

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

0.0

1.8

—

(4094501)

0.00

0.0

1.3

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

13.4

—

824.6

—

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

0.00

0.0

1.2

—

14.0

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

2.4

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.2

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.0

—

66.8

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.4

—

32.6

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.1

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.0

—

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

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

0.97

0.00

7.2

3.6

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.8

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

14.0

—

1819.4

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.3

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.04

0.00

1.3

1.7

mmol/l

1.0

1.4

—

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

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_HYPERTHY and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_HYPERTHY.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: E4_HYPERTHY – Persistent hyperplasia of thymus

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_HYPERTHY
CONTROL_EXCLUDE	E4_ENDOGLAND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E320
HD_ICD_9	2540
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	E320
COD_ICD_9	2540
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

Persistent hyperplasia of thymus

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