Lipids & metabolic liver disease
Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria
Authors' conclusion
This study reported for the first time the prevalence of DBL in the UK Biobank according to genetic ancestry. Furthermore, we provided the first external validation of different diagnostic criteria for DBL in a large population-based cohort and highlighted the fact that these criteria should not be used to diagnose DBL alone but should rather be used as a first screening step to determine which individuals may benefit from genetic testing to confirm the diagnosis.
Study context
- Population
- UK Biobank participants; Dysbetalipoproteinemia (DBL) defined as ε2ε2 genotype with mixed dyslipidemia or lipid-lowering therapy use (n = 964); criteria applied in individuals without lipid-lowering medication (n = 370,039, n = 534 DBL)UK Biobank
- Participants
- 453,437 participants
- Exposure
- Different clinical diagnostic criteria for dysbetalipoproteinemia vs genetic diagnosis (ε2ε2 genotype with mixed dyslipidemia or lipid-lowering therapy)
- Outcome
- Prevalence of DBL
Methodological detailspopulation-based cohort, diagnostic criteria validation
- Population-based cohort
- Diagnostic criteria validation
Main finding
As reported in the abstract
Participants with ε2ε2 genotype
0.6%
ε2ε2 carriers classified as DBL
36%
DBL prevalence
0.2%
1:469
DBL prevalence similar across genetic ancestries
≤0.2%
Observational data: associations, not effects.
Further findings
Performance of diagnostic criteria for DBL
- Sensitivity of several diagnostic criteria
- >90%
- PPV of diagnostic criteria (very low)
- 0.6-15.4%
- Individuals without lipid-lowering medication
Original publication
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