Lactose intolerance, other/unspecified

E4_LACTONAS

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.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E73.8, E73.9
  • Hospital discharge: ICD-9 2713A
  • Cause of death: ICD-10 E73.8, E73.9
  • Cause of death: ICD-9 2713A

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

841

4. Check minimum number of events

None

841

5. Include endpoints

None

841

6. Filter based on genotype QC (FinnGen only)

797

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 10993 6393 4499
Only index persons 8968 5282 3686
Unadjusted period prevalence (%)
Whole population 0.16 0.18 0.13
Only index persons 0.17 0.19 0.14
Median age at first event (years)
Whole population 34.08 43.09 20.61
Only index persons 30.81 38.17 20.25

-FinnGen-

Key figures

All Female Male
Number of individuals 797 535 262
Unadjusted period prevalence (%) 0.20 0.23 0.14
Median age at first event (years) 40.55 39.73 42.22

-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

Mortality – FinRegistry

Relationships between endpoints

Index endpoint: E4_LACTONAS – Lactose intolerance, other/unspecified

GWS hits: 1

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