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.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
93 |
4. Check minimum number of eventsNone |
93 |
5. Include endpointsNone |
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
Similar endpoints
↥List of similar endpoints to
Congenital lactase deficiency
based on the number of shared cases.
Similar with more cases:
- Lactose intolerance
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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
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 dataMortality 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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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