Risteys · E4_ANDRORESIST

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 — E34.5 Cause of death: ICD-10 — E34.5 2 out of 7 registries used, show all original rules.	18
4. Check minimum number of events None	18
5. Include endpoints None	18
6. Filter based on genotype QC (FinnGen only)	18

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	221	150	71
Only index persons	204	139	65
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.01	0.00
Median age at first event (years)
Whole population	-	11.86	7.65
Only index persons	10.93	12.47	7.65

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	18	12	6
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	14.13	12.92	16.56

-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

(3017446) Testosterone [Moles/volume] in Serum or Plasma

8.33

2.96

2.7

1.3

nmol/l

15.0

18.6

—

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

2.70

1.03

1.5

—

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

151

0.39

1.01

3.6

3.9

—

(42870588) Differential panel, method unspecified - Blood

2.45

0.98

13.2

9.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

2.39

0.95

3.7

3.4

—

(3026782) Osmolality of Urine

0.00

0.85

0.0

2.7

—

508.5

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

2.08

0.72

1.4

2.4

mmol/l

2.4

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

1.95

0.65

6.3

u/l

59.5

85.2

2.62

(3013512) EKG study

0.00

0.65

0.0

3.7

—

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

1.96

0.59

3.3

3.7

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

106

0.56

0.50

2.8

2.7

u/l

24.1

34.3

—

100

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

0.59

0.48

2.3

1.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

0.00

0.43

0.0

1.7

—

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

0.00

0.43

0.0

1.1

—

(3012516) Albumin [Mass/volume] in Urine

0.00

0.43

0.0

2.8

—

157.6

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.43

0.0

1.2

—

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

1.64

0.41

2.8

9.9

mmol/l

1.2

—

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

1.54

0.39

3.7

10.9

mmol/l

1.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.67

0.34

6.6

3.7

—

(40758558) Short blood count panel - Blood

1.39

0.25

7.0

10.9

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

0.22

0.0

1.2

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.22

0.0

1.1

—

0.1

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.22

0.0

1.0

—

3.2

—

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

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

1.3

—

25.5

—

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

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.0

—

0.1

—

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

0.00

0.22

0.0

7.9

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.1

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.22

0.0

1.3

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

0.22

0.0

1.1

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.22

0.0

1.7

—

(3000492) Spirometry study

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.2

—

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

1.43

0.21

4.8

4.3

—

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

0.73

0.10

1.0

1.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.93

0.00

1.7

1.6

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

13.2

—

825.0

—

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

0.00

0.0

1.2

—

30.7

—

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

0.00

0.0

1.7

—

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

1.03

0.00

4.0

4.7

—

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

0.00

0.0

18.3

—

1593.3

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.0

1.3

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

10.0

—

84.3

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.5

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.0

1.3

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.0

1.3

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.8

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

3.8

—

0.3

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

3.0

—

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

0.00

0.0

4.0

—

22.8

—

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

0.86

0.00

1.8

1.7

—

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

0.00

0.0

2.0

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

4.9

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

0.90

0.00

2.4

2.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.9

—

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

0.00

0.0

1.8

—

(3015736) pH of Urine

1.03

0.00

1.8

3.0

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

0.00

0.0

4.0

—

3.4

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.0

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(4035726)

0.00

0.0

1.2

—

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

1.03

0.00

2.6

2.3

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.1

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

0.00

0.0

7.9

—

5.2

—

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

0.00

0.0

1.0

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

0.00

0.0

11.6

—

112.0

—

(3020630) Protein [Mass/volume] in Serum or Plasma

0.00

0.0

12.4

—

64.2

—

(3027801) Oxygen [Partial pressure] in Arterial blood

0.00

0.0

7.9

—

12.1

—

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

0.00

0.0

3.4

—

491.4

—

(3016502) Oxygen saturation in Arterial blood

0.00

0.0

8.6

—

96.1

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

1.6

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

0.00

0.0

1.3

—

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

0.00

0.0

3.6

—

(3019225) pH of Specimen

0.00

0.0

4.4

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

0.00

0.0

12.8

—

0.9

—

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.6

—

45.4

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

6.0

—

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

0.00

0.0

1.3

—

(3020779) Urea [Moles/volume] in Serum or Plasma

0.00

0.0

14.9

—

6.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_ANDRORESIST and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_ANDRORESIST.

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_ANDRORESIST – Androgen resistance syndrome

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	E4_ANDRORESIST
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	E345
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
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E345
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
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

Androgen resistance syndrome

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