Familial combined hyperlipidaemia: how can genetic disorders be common, complex and comprehensible?
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
The three-model screen
all 1,000 screened works →All three models called this out of scope.
Commentary proposing a disease model of familial combined hyperlipidaemia; a clinical-genetics topic.
It is a letter discussing familial hyperlipidaemia biology, not research itself.
Letter proposing a multi-gene model of familial combined hyperlipidaemia; clinical commentary, not metaresearch.
Abstract
FCHL (familial combined hyperlipidaemia) is characterized by multiple phenotypes that are shaped by genes, the environment and time. A longitudinal study by Brouwers and co-workers, which appears in this issue of Clinical Science, points to the central role of the liver in defining the FCHL phenotypes and demonstrates how they vary over time in relation to energy excess. On the basis of their work and that of others, we propose that FCHL is a multiple gene/multiple pathway/multiple phenotype disease. The key feature of this model of common complex disease is that it posits testable faults in definable metabolic pathways, which supply the genetic underpinning of the disorder.
Stored with the screening record, where it is evidence for the labels above.
The record
- Venue
- Clinical Science
- Topic
- Lipid metabolism and disorders
- Field
- Medicine
- Canadian institutions
- McGill University
- Funders
- —
- Keywords
- PhenotypeDiseaseComplex diseaseClinical phenotypeGeneticsBiologyGeneUnderpinningBioinformaticsComputational biologyMedicineInternal medicine
- Has abstract in OpenAlex
- yes