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Molecular Genetics of Hypertriglyceridaemia

2017· other· en· W2593931411 on OpenAlexaff
Jacqueline S. Dron, Robert A. Hegele

Bibliographic record

VenueEncyclopedia of Life Sciences · 2017
Typeother
Languageen
FieldMedicine
TopicLipid metabolism and disorders
Canadian institutionsWestern University
Fundersnot available
KeywordsHypertriglyceridemiaInternal medicineLipoprotein lipasePancreatitisMedicineEndocrinologyMendelian inheritanceAsymptomaticApolipoprotein BBiologyGeneticsTriglycerideGeneCholesterol

Abstract

fetched live from OpenAlex

Abstract Hypertriglyceridemia (HTG) is a commonly encountered medical condition defined by elevated fasting plasma triglyceride (TG) levels. The degree of elevation may range from mild to severe, with clinical features ranging from asymptomatic to increased vascular disease susceptibility to life‐threatening pancreatitis. While numerous nongenetic secondary factors play a strong contributory role, a genetic component is frequently present in patients who clinically express HTG. Purely monogenic or Mendelian HTG – for example autosomal recessive chylomicronemia – is exceedingly rare and results from bi‐allelic mutations affecting lipolysis. The pool of patients with more common polygenic HTG has an increased frequency of heterozygous large‐effect rare variants in LPL (lipoprotein lipase) and related genes, together with a high burden of small‐effect common polymorphisms, although any particular variant is not definitively causative in this condition. Key Concepts Hypertriglyceridemia (HTG) ranges from mild to severe, with the role of genetic determinants increasing with a more severe clinical presentation. One definition proposes that plasma triglyceride (TG) levels in mild‐to‐moderate HTG are between 2.0 and 9.9 mmol L −1 (175 and 885 mg dL −1 ), while in severe HTG, levels exceed 10 mmol L −1 (885 mg dL −1 ). A gamut of secondary factors can contribute to clinical expression of HTG. Clinical consequences of HTG range from increased vascular disease risk to visible lipid eruptions on the skin to life‐threatening pancreatitis, depending on the affected species of lipoprotein particles and associated disturbances. Monogenic chylomicronemia is an extreme and rare form of severe HTG that results from bi‐allelic mutations in LPL , APOC2 , APOA5 , LMF1 , or GPIHBP1 genes. Most other HTG cases have a polygenic basis: this patient pool harbours an assortment of genetic variants, including a high burden of rare heterozygous large‐effect variants and common small‐effect variants.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0030.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.017
GPT teacher head0.288
Teacher spread0.271 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreOther

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations1
Published2017
Admission routes1
Has abstractyes

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