Congenital lactase deficiency

E4_LACTOCON

lactose intolerance: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.

Suggest a new description

Endpoint definition

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 E73.0
  • Cause of death: ICD-10 E73.0

2 out of 7 registries used, show all original rules.

93

4. Check minimum number of events

None

93

5. Include endpoints

None

93

6. Filter based on genotype QC (FinnGen only)

93

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E73
Name in latin
Deficientia lactasae congenita

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1143 650 487
Only index persons 1029 596 433
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 15.54 18.37 11.55
Only index persons 15.74 18.53 11.90

-FinnGen-

Key figures

All Female Male
Number of individuals 93 69 24
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 40.93 39.56 44.88

-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

No data

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.

Matched cohort

Matched cases
76
Matched controls
758
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E73.0
ICD-10 Finland
Congenital lactase deficiency
+∞
109.3
76
*
E73.9
ICD-10 Finland
Lactose intolerance, unspecified
100.8
8.6
9
*
K58.0
ICD-10 Finland
Irritable bowel syndrome with diarrhoea
7.8
7.5
17
27
A06AC01
ATC
ispaghula (psylla seeds); oral
4.0
6.7
31
111
XF400
NOMESCO Finland
ECG with 12 standard connections
5.4
6.6
20
47

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
61
196
7.14
19.90
1.4
1.2
u/ml
1.1
1.9
0.31
18
53
(3048689) Calprotectin [Mass/mass] in Stool
39
102
5.86
15.27
2.2
1.7
ug/g
74.2
61.7
0.27
30
70
(3000570) Elastase.pancreatic [Mass/mass] in Stool
14
14
11.59
12.55
1.7
1.5
ug/g
388.3
386.9
—
8
6
(36660697) Celiac disease serology panel - Serum
26
72
4.62
9.06
1.2
1.1
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
22
53
5.13
9.05
1.1
1.0
—
—
—
0
0
(3022145) Colonoscopy Study observation
25
74
4.25
7.93
1.4
1.3
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
55
282
3.33
7.47
7.9
6.9
mmol/l
1.2
1.2
0.14
50
257
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
57
299
3.34
7.45
10.3
7.2
mmol/l
1.2
1.2
0.49
52
254
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
16
35
5.31
7.25
1.5
1.3
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
39
171
3.21
6.76
2.5
1.4
g/l
1.8
2.2
0.97
26
101
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
48
241
3.05
6.53
2.5
1.7
pmol/l
112.9
96.7
0.97
31
111
(40768797) Stomach Pathology biopsy report
24
79
3.75
6.49
1.3
1.1
—
—
—
0
0
(3024561) Albumin [Mass/volume] in Serum or Plasma
46
241
2.80
5.58
5.4
4.0
g/l
35.6
36.2
0.24
38
227
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
82
589
4.32
5.57
4.5
3.8
pmol/l
14.5
14.7
0.20
77
534
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
41
209
2.72
5.16
3.4
2.4
u/l
61.4
57.9
0.27
36
190
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
40
206
2.65
4.89
5.8
3.2
ng/l
17.3
60.3
1.07
25
121
(3023368) Bacteria identified in Blood by Culture
31
143
2.75
4.67
4.6
3.7
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
86
691
4.25
4.47
17.2
9.4
ml/min/173m2
88.5
90.2
0.22
73
543
(3021960) Folate [Moles/volume] in Serum or Plasma
31
146
2.68
4.46
1.6
1.5
nmol/l
20.5
21.4
0.11
25
120
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
39
209
2.49
4.29
5.8
2.7
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
42
234
2.45
4.24
3.4
2.9
u/l
23.7
31.1
4.26
37
219
(3037467) Urinalysis macro (dipstick) panel - Urine
71
505
2.72
4.16
6.1
3.6
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
33
166
2.53
4.12
2.1
1.8
mg/l
2.9
2.9
0.05
25
135
(3019309) Folate [Moles/volume] in Red Blood Cells
23
98
2.79
3.97
1.7
1.6
nmol/l
1292.6
1106.2
0.44
17
75
(3003327) Ova and parasites identified in Stool by Light microscopy
10
25
4.36
3.80
1.0
1.3
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
38
211
2.35
3.78
3.8
3.0
mmol/l
2.3
2.4
0.80
33
182
(3020682) Albumin/Creatinine [Ratio] in Urine
30
150
2.48
3.76
5.8
3.3
mg/mmol
8.2
19.4
0.54
20
84
(42870588) Differential panel, method unspecified - Blood
40
229
2.31
3.70
5.6
4.8
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
29
144
2.47
3.68
5.3
2.8
mg/l
37.0
132.9
0.78
21
80
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
9
17
5.74
3.61
4.0
2.4
%
163.3
188.9
—
9
17
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
38
218
2.26
3.45
1.4
1.7
—
—
—
0
0
(3019225) pH of Specimen
14
49
3.19
3.36
13.4
2.7
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
7
13
5.72
2.92
3.6
2.7
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
21
99
2.45
2.92
3.8
2.3
e6/l
1.7
0.9
0.36
12
56
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
11
36
3.33
2.91
1.4
1.7
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
60
433
2.09
2.86
8.6
8.9
e9/l
3.9
3.9
0.03
52
383
(3032080) INR in Blood by Coagulation assay
35
209
2.08
2.78
5.5
4.7
inr
1.2
1.1
—
9
65
(3013115) Eosinophils [#/volume] in Blood
56
397
2.03
2.76
6.4
5.8
e9/l
0.1
0.2
0.98
51
354
(3001604) Monocytes [#/volume] in Blood
54
379
2.01
2.73
6.1
5.3
e9/l
0.5
0.5
0.20
47
331
(3006315) Basophils [#/volume] in Blood
54
379
2.01
2.73
6.1
5.3
e9/l
0.0
0.0
0.12
47
331
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
79
642
2.53
2.70
6.6
4.1
mmol/mol
39.9
37.9
0.89
79
597
(3011397) Hemoglobin [Presence] in Urine by Test strip
28
155
2.15
2.69
3.1
3.3
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
11
38
3.15
2.68
1.2
1.1
—
—
—
0
0
(3022621) pH of Urine by Test strip
13
50
2.86
2.66
2.7
2.3
—
—
—
0
0
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
7
15
4.95
2.65
1.4
1.2
—
—
—
0
0
(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection
5
7
7.46
2.58
1.4
1.0
—
—
—
0
0
(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection
5
7
7.46
2.58
1.4
1.0
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
5
7
7.46
2.58
1.2
1.1
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
9
26
3.72
2.56
1.2
2.8
—
—
—
0
0
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
7
16
4.64
2.52
3.4
2.3
g/l
2.8
3.6
—
7
16
(3019150) Specific gravity of Urine by Refractometry
28
159
2.09
2.50
4.0
3.2
kg/l
1.0
1.0
1.19
11
22
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
19
92
2.34
2.48
3.9
2.5
e6/l
1.6
3.2
—
8
50
(3015736) pH of Urine
42
278
1.93
2.44
3.5
2.9
—
—
—
0
0
(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum
8
22
3.88
2.42
1.1
1.4
—
12.6
—
0
8
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
82
689
2.61
2.40
5.2
3.6
mmol/l
6.0
5.7
0.91
76
632
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
12
47
2.78
2.38
5.6
5.3
kpa
5.3
5.1
0.62
12
41
(3052851) Hemolysis interference index of Serum or Plasma
8
23
3.70
2.33
2.0
2.7
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
54
393
1.89
2.32
6.1
5.3
e9/l
1.9
2.0
0.07
48
352
(3012544) pH of Venous blood
13
54
2.64
2.32
4.2
3.8
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
6
13
4.85
2.31
1.2
1.1
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
5
9
5.79
2.24
1.4
1.2
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
28
166
1.98
2.21
2.2
1.6
mg/l
5.3
0.9
0.51
20
124
(40761535) Cells panel - Urine sediment
11
43
2.77
2.18
2.7
3.7
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
31
192
1.92
2.15
4.3
2.6
e6/l
15.8
26.3
0.46
25
149
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
9
31
3.10
2.14
3.4
2.3
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
11
44
2.70
2.10
1.5
2.3
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
6
15
4.20
2.07
1.2
1.1
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
9
33
2.91
1.99
4.8
1.8
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
6
16
3.93
1.97
1.5
1.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
34
224
1.82
1.93
3.6
2.2
—
—
—
0
0
(3022313) Gas panel - Capillary blood
9
34
2.82
1.92
6.7
5.9
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
12
53
2.45
1.90
4.4
3.5
kpa
6.0
5.7
0.50
12
53
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
6
17
3.70
1.87
1.0
1.3
—
—
—
0
0
(3015235) Bicarbonate [Moles/volume] in Capillary blood
6
17
3.70
1.87
1.8
2.5
mmol/l
27.2
25.3
—
6
12
(36304419) Bacteria [Presence] in Urine
28
175
1.86
1.87
4.5
2.5
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
5
12
4.34
1.84
1.2
1.2
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
19
104
2.04
1.84
1.6
1.8
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
10
41
2.61
1.82
1.3
1.2
—
—
—
0
0
(3024354) Oxygen [Partial pressure] in Venous blood
11
48
2.46
1.78
3.0
2.7
kpa
5.3
5.0
0.07
11
48
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
20
113
1.98
1.78
4.0
2.7
ng/l
10.7
182.2
0.89
12
69
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
8
30
2.82
1.77
7.0
6.8
mmol/l
24.6
25.0
—
8
30
(3001019) Free T4 and TSH panel - Serum or Plasma
10
42
2.55
1.74
2.0
1.6
—
—
—
0
0
(3044889) 12 lead EKG panel
57
447
1.71
1.70
3.6
3.3
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
34
232
1.73
1.68
5.0
3.2
e6/l
19.1
67.5
1.14
25
159
(3004789) Transferrin [Mass/volume] in Serum or Plasma
15
78
2.10
1.65
3.8
1.9
g/l
2.7
2.4
0.93
15
69
(3002385) Erythrocyte distribution width [Ratio]
78
673
1.99
1.64
20.4
13.6
%
13.7
13.5
1.13
78
664
(3037522) Nuclear Ab [Titer] in Serum
19
109
1.93
1.62
1.4
1.4
titre
273.3
446.0
—
6
20
(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
8
33
2.55
1.58
1.8
1.5
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
27
176
1.75
1.55
4.5
2.6
e6/l
0.1
0.4
1.57
22
134
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
5
15
3.46
1.54
1.0
1.2
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
5
15
3.46
1.54
1.0
1.2
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
9
38
2.51
1.50
15.2
8.1
mmol/l
10.3
8.9
—
9
38
(3023511) Choriogonadotropin [Units/volume] in Urine
9
38
2.51
1.50
1.1
1.3
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
6
22
2.84
1.46
1.2
1.2
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
38
277
1.63
1.43
3.9
3.2
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
14
75
2.02
1.43
1.5
1.5
—
—
—
0
0
(3000991) Gas panel - Venous blood
10
47
2.26
1.39
6.8
8.6
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
45
344
1.60
1.39
4.5
4.2
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
6
24
2.60
1.32
2.0
1.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
29
201
1.64
1.32
2.7
2.5
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
9
44
2.16
1.31
1.3
1.2
—
—
—
0
0
(3020891) Body temperature
6
25
2.49
1.26
2.7
4.6
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
5
19
2.72
1.23
1.2
1.2
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
5
20
2.58
1.16
1.0
1.5
—
—
—
0
0
(3047181) Lactate [Moles/volume] in Blood
5
20
2.58
1.16
1.2
25.8
mmol/l
1.3
1.1
—
5
15
(3019060) Gas panel - Arterial blood
7
30
2.44
1.15
1.7
19.4
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
13
75
1.85
1.09
1.5
1.6
—
—
—
0
0
(4010399)
9
45
2.11
1.08
1.4
1.4
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
38
293
1.50
1.07
2.3
1.8
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
21
141
1.63
1.07
1.5
1.3
iu/ml
19.6
24.2
—
7
39
(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma
9
47
2.01
1.06
4.9
3.4
ug/l
2.6
6.5
—
9
35
(3009542) Hematocrit [Volume Fraction] of Blood
80
727
1.72
0.99
20.7
12.2
%
40.0
39.8
0.10
64
580
(40758558) Short blood count panel - Blood
27
200
1.49
0.90
3.7
6.7
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
17
113
1.62
0.90
1.4
1.4
—
—
—
0
0
(3036481) Cortisol [Moles/volume] in Serum or Plasma
11
65
1.79
0.87
2.6
2.6
nmol/l
386.2
387.1
0.01
11
56
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
24
175
1.50
0.86
3.9
2.2
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
15
98
1.63
0.85
1.9
2.5
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
6
32
1.93
0.83
1.0
1.3
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
14
92
1.61
0.77
1.4
1.8
—
—
—
0
0
(40768793) Breast Pathology biopsy report
5
24
2.14
0.76
1.0
1.2
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
5
25
2.05
0.74
1.2
1.2
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
5
25
2.05
0.74
1.2
1.2
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
5
25
2.05
0.74
1.2
1.2
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
5
26
1.97
0.72
1.6
2.5
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
5
28
1.83
0.67
2.4
25.1
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
16
113
1.50
0.66
1.8
2.0
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
5
29
1.76
0.65
1.6
1.7
g/l
0.2
0.2
—
5
29
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
5
29
1.76
0.65
1.0
1.3
—
—
—
0
0
(4035726)
8
49
1.69
0.64
1.0
1.2
—
—
—
0
0
(3013512) EKG study
21
160
1.40
0.60
4.3
2.6
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
19
144
1.40
0.56
1.6
1.3
u/ml
2.4
4.5
—
8
65
(3002256) Pathology report gross observation
11
74
1.55
0.56
1.5
1.2
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
11
75
1.53
0.53
1.0
1.4
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
6
40
1.53
0.52
5.8
8.3
mmol/l
24.8
25.0
—
6
40
(3041096) Erythrocytes [Presence] in Urine by Automated
25
201
1.33
0.52
4.0
2.8
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
11
76
1.51
0.51
4.1
5.6
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
16
120
1.40
0.50
1.9
1.5
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
5
31
1.65
0.44
2.2
2.1
%
2.4
1.4
—
5
31
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
5
32
1.59
0.43
4.2
2.9
%
65.7
50.0
—
5
32
(3005719) IgG [Mass/volume] in Serum or Plasma
8
58
1.41
0.43
1.4
2.0
g/l
9.1
10.3
—
8
52
(1761482) Bacteria [#/volume] in Urine by Culture
0
16
0.00
0.41
0.0
3.3
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
21
174
1.27
0.35
2.3
2.2
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
22
184
1.26
0.34
1.5
1.4
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
10
75
1.37
0.31
1.2
1.7
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
22
191
1.20
0.25
2.7
2.5
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
7
94
0.72
0.23
1.0
1.2
—
—
—
0
0
(40768443) Skin Pathology biopsy report
5
39
1.30
0.23
1.0
1.1
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
5
39
1.30
0.23
1.6
1.6
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
11
89
1.27
0.22
6.7
5.0
ug/l
1.9
1.6
0.18
11
75
(3035637) Corticotropin [Mass/volume] in Plasma
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
11
0.00
0.21
0.0
1.7
—
13.7
—
0
11
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
10
0.00
0.21
0.0
2.4
—
6.4
—
0
10
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
10
0.00
0.21
0.0
2.4
—
1.5
—
0
10
(3023410) Appearance of Cerebral spinal fluid
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
6
47
1.30
0.21
2.3
1.9
—
—
—
0
0
(3008898) HLA-B27 [Presence]
6
49
1.24
0.20
1.0
1.1
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
3.1
—
63.5
—
0
14
(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma
6
52
1.16
0.19
3.5
2.9
ug/l
0.6
0.6
—
6
26
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
65
623
1.14
0.19
3.8
3.6
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
7
57
1.25
0.19
5.6
3.1
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
22
196
1.16
0.18
2.0
1.7
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
11
91
1.24
0.18
1.2
1.8
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
5
68
0.72
0.17
1.4
1.6
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
27
248
1.13
0.15
1.6
1.6
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
33
349
0.92
0.11
7.3
7.3
e9/l
0.0
0.0
0.49
26
277
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
5
44
1.14
0.10
1.6
1.5
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
5
61
0.81
0.08
2.2
1.9
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
5
60
0.82
0.08
2.2
1.8
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
5
60
0.82
0.08
2.2
1.9
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
5
60
0.82
0.08
2.2
1.9
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
7
67
1.05
0.08
1.3
1.4
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
9
103
0.86
0.06
1.4
1.5
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
24
253
0.93
0.06
2.7
2.1
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
19
178
1.08
0.06
4.0
5.3
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
10
90
1.12
0.06
2.0
2.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
27
278
0.96
0.02
2.3
2.2
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
17
172
0.99
0.00
2.1
1.7
—
—
—
0
0
(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3017817) Protein [Mass] in Urine collected for unspecified duration
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3013293) Extractable nuclear Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
1.1
—
0
5
(40765089) Chromosome analysis panel - Blood by G-banded
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3010838) Calcium [Moles/time] in 24 hour Urine
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3018658) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027901) Hemoglobin [Mass/volume] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
171.4
—
0
5
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3022411) Androstenedione [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
8.1
—
0
5
(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(4027681)
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.7
—
2.0
—
0
7
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline
0
6
0.00
0.00
0.0
1.2
—
5.7
—
0
6
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
5
59
0.84
0.00
1.4
1.5
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
9
89
1.01
0.00
1.3
1.7
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(40768441) Liver Pathology biopsy report
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(42870560) Thyrotropin [Units/volume] in Cord blood
0
9
0.00
0.00
0.0
1.0
—
5.2
—
0
9
(3023419) Bacteria identified in Sputum by Culture
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
5
58
0.85
0.00
1.4
1.5
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
5
59
0.84
0.00
1.4
1.5
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
6
60
1.00
0.00
1.3
1.3
—
—
—
0
0
(4198724)
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
150.8
—
0
7
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
5
59
0.84
0.00
1.4
1.5
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
5
55
0.90
0.00
1.4
1.4
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.5
—
105.2
—
0
6
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
0
6
0.00
0.00
0.0
4.2
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(1617658) Protocol used for examination of sentinel lymph nodes
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000492) Spirometry study
6
61
0.98
0.00
1.5
1.2
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.7
—
2.1
—
0
7
(3039443) Prostate specific Ag panel - Serum or Plasma
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.5
—
3.9
—
0
6
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
5
55
0.90
0.00
1.4
1.4
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
5
59
0.84
0.00
1.4
1.5
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
6
68
0.87
0.00
1.2
1.3
—
—
—
0
0
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(4146454)
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_LACTOCON and mortality.

Females

Parameter HR [95% CI] p-value
E4_LACTOCON 1.627 [1.12, 2.36] 0.01
Birth year 0.995 [0.99, 1.0] 0.232

During the follow-up period (1.1.1998 — 31.12.2019), 65 out of 593 females with E4_LACTOCON died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LACTOCON.

N-year risk Females Males
1 0.185% No data
5 0.927% No data
10 2.137% No data
15 4.317% No data
20 7.943% No data

Relationships between endpoints

Index endpoint: E4_LACTOCON – Congenital lactase deficiency

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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