Risteys · G6_ALCOMYOP

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 — G72.1 Cause of death: ICD-10 — G72.1 2 out of 7 registries used, show all original rules.	35
4. Check minimum number of events None	35
5. Include endpoints None	35
6. Filter based on genotype QC (FinnGen only)	35

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	528	123	401
Only index persons	419	102	317
Unadjusted period prevalence (%)
Whole population	0.01	0.00	0.01
Only index persons	0.01	0.00	0.01
Median age at first event (years)
Whole population	58.43	59.95	57.98
Only index persons	58.88	60.75	58.28

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	35	8	27
Unadjusted period prevalence (%)	0.01	0.00	0.01
Median age at first event (years)	56.65	53.89	57.47

-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

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

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

9.36

3.75

2.1

ug/l

2111.4

157.1

—

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

4.43

3.33

1.2

1.7

—

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

3.83

3.12

2.5

2.0

—

(3022313) Gas panel - Capillary blood

6.42

3.04

6.3

3.1

—

(3027008) Opiates [Presence] in Urine

6.26

2.29

2.4

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

6.26

2.29

2.4

1.2

—

(3016879) Cocaine [Presence] in Urine

6.26

2.29

2.4

1.1

—

(3028300) Cannabinoids [Presence] in Urine

6.26

2.29

2.4

1.2

—

(3027944) Amphetamines [Presence] in Urine

6.26

2.29

2.4

1.2

—

(3026008) Bacteria identified in Urine by Culture

2.97

2.24

4.2

2.9

—

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

3.42

2.19

2.0

1.5

—

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

2.99

2.17

1.9

1.7

—

(3007461) Platelets [#/volume] in Blood

304

0.33

2.10

58.5

21.0

e9/l

228.8

237.0

0.16

297

(3026361) Erythrocytes [#/volume] in Blood

304

0.33

2.10

58.1

20.9

e12/l

4.4

4.6

0.65

298

(40768797) Stomach Pathology biopsy report

3.10

1.97

1.2

1.3

—

(3037522) Nuclear Ab [Titer] in Serum

2.93

1.72

1.3

1.6

—

500.0

—

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

2.84

1.66

1.6

1.5

—

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

102

2.30

1.53

2.4

1.9

pmol/l

81.7

98.6

—

(3019060) Gas panel - Arterial blood

3.46

1.49

7.4

5.1

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

270

0.44

1.39

30.3

13.2

ml/min/173m2

94.1

83.5

0.90

216

(3023368) Bacteria identified in Blood by Culture

2.25

1.39

6.3

6.1

—

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

2.66

1.38

1.6

1.5

—

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

293

0.42

1.35

40.0

16.5

umol/l

76.6

80.5

0.20

293

(40761511) CBC panel - Blood by Automated count

284

0.45

1.29

43.2

13.1

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.24

0.0

1.5

—

(3002032) Base excess in Venous blood by calculation

2.66

1.20

3.3

3.7

mmol/l

1.8

2.7

—

(3012544) pH of Venous blood

2.56

1.18

4.3

3.6

—

(3019225) pH of Specimen

2.60

1.13

4.6

—

(1761868) Lipid panel - Serum or Plasma

121

0.47

1.04

5.0

2.9

—

(3026782) Osmolality of Urine

2.10

1.00

3.5

2.9

mosm/kgh2o

447.6

577.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

158

1.82

0.88

6.7

3.9

—

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

0.00

0.83

0.0

2.2

—

(3000492) Spirometry study

0.00

0.81

0.0

1.3

—

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

1.99

0.78

3.9

10.1

mmol/l

102.4

103.4

—

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

2.26

0.78

2.2

1.6

—

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

280

0.55

0.76

44.9

16.2

mmol/l

3.8

4.0

1.77

275

(3009542) Hematocrit [Volume Fraction] of Blood

252

0.58

0.71

37.5

15.6

39.1

41.2

0.84

192

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

277

0.57

0.66

45.2

16.6

mmol/l

139.0

139.6

0.57

272

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.62

0.0

1.1

—

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

1.70

0.62

4.1

2.6

—

(3002385) Erythrocyte distribution width [Ratio]

230

0.62

0.61

47.8

18.0

13.9

13.6

0.48

225

(3007853) Bacteria identified in Skin by Aerobe culture

1.65

0.56

1.5

1.7

—

(3044889) 12 lead EKG panel

197

0.65

0.51

6.2

3.7

—

(3013512) EKG study

1.55

0.45

8.0

3.9

—

(1002224) Polysomnography panel

0.00

0.42

0.0

1.1

—

(4034850)

0.00

0.42

0.0

7.8

—

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

0.00

0.41

0.0

1.6

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

0.00

0.41

0.0

3.9

—

61.8

—

(4035726)

0.00

0.41

0.0

1.2

—

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

1.48

0.41

2.5

3.2

—

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

120

1.44

0.39

5.4

4.0

—

(40768804) Tissue Pathology biopsy report

111

1.44

0.38

1.4

2.0

—

(3042936) Bacteria identified in Isolate by Culture

1.48

0.37

2.5

2.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.36

0.29

3.9

3.5

—

(36304419) Bacteria [Presence] in Urine

1.31

0.29

2.9

3.0

—

(40758558) Short blood count panel - Blood

0.71

0.28

6.7

5.5

—

(3022145) Colonoscopy Study observation

1.41

0.25

1.0

1.5

—

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

2.2

—

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

0.00

0.22

0.0

2.1

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.21

0.0

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.3

—

(42870588) Differential panel, method unspecified - Blood

1.29

0.19

8.3

5.1

—

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

1.29

0.19

3.4

3.9

—

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

0.70

0.19

1.4

—

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

168

0.81

0.16

3.3

3.1

—

(3015736) pH of Urine

1.21

0.12

3.0

3.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.12

0.09

4.4

5.7

—

(3044640) Blood type and Crossmatch panel - Blood

1.12

0.03

4.4

2.5

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.2

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

1.1

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

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

0.00

0.0

2.4

—

83.2

—

(3024980) IgG subclass 4 [Mass/volume] in Serum

0.00

0.0

1.5

—

0.7

—

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

0.00

0.0

2.6

—

1.3

—

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

0.00

0.0

1.3

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.1

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

0.89

0.00

2.4

1.3

—

1.3

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

0.2

—

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

0.00

0.0

1.3

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.1

—

10.4

—

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

0.95

0.00

2.0

1.7

mmol/l

1.9

1.6

—

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

0.00

0.0

1.0

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

1.1

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.0

1.1

—

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

0.00

0.0

1.6

—

29.6

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

1.3

—

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

0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.1

—

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

0.00

0.0

1.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_ALCOMYOP and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
G6_ALCOMYOP	6.168 [4.14, 9.19]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.005

During the follow-up period (1.1.1998 — 31.12.2019), 229 out of 348 males with G6_ALCOMYOP died.

Mortality risk

Mortality risk for people of age

years, who have G6_ALCOMYOP.

N-year risk	Females	Males
1	No data	1.273%
5	No data	7.229%
10	No data	16.823%
15	No data	29.753%
20	No data	45.872%

Relationships between endpoints

↥

Index endpoint: G6_ALCOMYOP – Alcoholic myopathy

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	G6_ALCOMYOP
CONTROL_EXCLUDE	G6_MYONEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G721
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	G721
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

Alcoholic myopathy

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