Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.

International journal of molecular sciences - 16 Jun 2026

Blokhina Anastasia V, Meshkov Alexey N, Ershova Alexandra I, Zaicenoka Marija, Mikhailina Viktoria I, Smetnev Stepan A, Bukaeva Anna A, Limonova Alena S, Kiseleva Anna V, Sotnikova Evgeniia A, Zharikova Anastasia A, Novokhatskaya Elizaveta A, Baranovskaya Elizaveta V, Vyatkin Yuri V, Ramensky Vasily E, Pokrovskaya Maria S, Drapkina Oxana M

Abstract excerpt

Severe hypertriglyceridemia (HTG) is genetically heterogeneous, but its genetic architecture remains incompletely characterized. We investigated the genetic determinants of severe HTG in 123 patients with triglyceride (TG) levels > 5.0 mmol/L and available NGS data. We analyzed rare variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE; the ε2/ε2 APOE genotype; and TG-polygenic risk score (PRS) based on 40...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apolipoprotein A-V

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Apolipoprotein C-II

Share to Genetic Risk Score

Share to Hypertriglyceridemia

Share to Lipoprotein Lipase

Share to Multifactorial Inheritance

Share to Receptors, Lipoprotein

Share to Triglycerides

Source

Open in PubMed Open full text

Identifiers

PMID: 42353159
DOI: 10.3390/ijms27125443
PMCID: PMC13300099

Genes

APOE
TG
LPL
APOA5
APOC2
GPIHBP1
LMF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.PMID 42353159Read ↗

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.Semantic proximity Read ↗

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.Semantic proximity Read ↗

Genetics of Hypertriglyceridemia.Semantic proximity Read ↗

Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia.Semantic proximity Read ↗

Understanding Hypertriglyceridemia: Integrating Genetic InsightsSemantic proximity Read ↗

Genetic bases of hypertriglyceridemic phenotypes.Semantic proximity Read ↗

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia SyndromesSemantic proximity Read ↗

The polygenic nature of mild-to-moderate hypertriglyceridemia.Semantic proximity Read ↗

Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome.Semantic proximity Read ↗

Clinical identification of familial chylomicronemia syndrome and novel therapeutic options.Semantic proximity Read ↗

Acute pancreatitis risk in multifactorial chylomicronemia syndrome depends on the molecular cause of severe hypertriglyceridemia.Semantic proximity Read ↗

Genetic determinants of pancreatitis risk in hypertriglyceridemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.